The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Tumors or cancer of the human BREAST.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
An individual having different alleles at one or more loci regarding a specific character.
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Biochemical identification of mutational changes in a nucleotide sequence.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
Excision of one or both of the FALLOPIAN TUBES.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
An exchange of DNA between matching or similar sequences.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A diverse class of enzymes that interact with UBIQUITIN-CONJUGATING ENZYMES and ubiquitination-specific protein substrates. Each member of this enzyme group has its own distinct specificity for a substrate and ubiquitin-conjugating enzyme. Ubiquitin-protein ligases exist as both monomeric proteins multiprotein complexes.
Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Identification of genetic carriers for a given trait.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
A cell line derived from cultured tumor cells.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.

Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1. (1/1487)

Breast cancer 1 (BRCA1) and BRCA1-associated RING domain 1 (BARD1) are multidomain proteins that interact in vivo via their N-terminal RING finger motif regions. To characterize functional aspects of the BRCA1/BARD1 interaction, we have defined the structural domains required for the interaction, as well as their oligomerization state, relative stability, and possible nucleic acid binding activity. We have found that the RING finger motifs do not themselves constitute stable structural domains but are instead part of larger domains comprising residues 1-109 of BRCA1 and residues 26-119 of BARD1. These domains exist as homodimers and preferentially form a stable heterodimer. Shorter BRCA1 RING finger constructs do not interact with BARD1 or with longer BRCA1 constructs, indicating that the heterodimeric and homodimer interactions are mediated by regions outside the canonical RING finger motif. Nucleic acid binding is a generally proposed function of RING finger domains. We show that neither the homodimers nor the heterodimer displays affinity for nucleic acids, indicating that the proposed roles of BRCA1 and BARD1 in DNA repair and/or transcriptional activation must be mediated either by other regions of the proteins or by additional cofactors.  (+info)

Chromatin remodeling and activation of chromosomal DNA replication by an acidic transcriptional activation domain from BRCA1. (2/1487)

An increasing number of transcription factors have been shown to activate DNA replication. However, the underlying mechanism remains to be elucidated. Here it is shown that when tethered to a cellular replication origin, the acidic transcriptional activation domain of the breast cancer protein BRCA1 alters the local chromatin structure and stimulates chromosomal DNA replication. Cancer-predisposing mutations in BRCA1 that abolish transcriptional activation also prevent chromatin remodeling and activation of replication. Chromatin remodeling occurs even in the absence of a functional replication origin. Thus, increasing chromatin accessibility may be an important mechanism used by transcription factors to facilitate multiple nuclear processes.  (+info)

Should insurance pay for preventive services suggested by genetics? (3/1487)

Physicians, plans and patients are discovering that the promise of genetic testing will be hard to fulfill. Even when a test can show predisposition toward a disease, performing it can't necessarily improve medical outcomes. Unfortunately, doing these tests can have some unintended negative effects.  (+info)

BRCA1 and BRCA2 proteins: roles in health and disease. (4/1487)

Between 5% and 10% of all breast cancer is hereditary, with patients having a strong family history of the disease. The remaining 90-95% of cases are classed as sporadic. Within the inherited group, 80-90% of cases are the result of germline mutations affecting two recently identified genes: BRCA1 and BRCA2. Since the sequencing of these genes, considerable research on the genetics of the mutation carriers has been performed, with less attention having been focused on the BRCA1 and BRCA2 proteins themselves. The structure and function of the protein products thus continues to hold mystery and might be the key to the full understanding of this complex disease.  (+info)

Binding of CtIP to the BRCT repeats of BRCA1 involved in the transcription regulation of p21 is disrupted upon DNA damage. (5/1487)

Mutations in BRCA1 are responsible for nearly all of the hereditary ovarian and breast cancers, and about half of those in breast cancer-only kindreds. The ability of BRCA1 to transactivate the p21 promoter can be inactivated by mutation of the conserved BRCA1 C-terminal (BRCT) repeats. To explore the mechanisms of this BRCA1 function, the BRCT repeats were used as bait in a yeast two-hybrid screen. A known protein, CtIP, a co-repressor with CtBP, was found. CtIP interacts specifically with the BRCT repeats of BRCA1, both in vitro and in vivo, and tumor-derived mutations in this region abolished these interactions. The association of BRCA1 with CtIP was also abrogated in cells treated with DNA-damaging agents including UV, gamma-irradiation, and adriamycin, a response correlated with BRCA1 phosphorylation. The transactivation of the p21 promoter by BRCA1 was diminished by expression of exogenous CtIP and CtBP. These results suggest that the binding of the BRCT repeats of BRCA1 to CtIP/CtBP is critical in mediating transcriptional regulation of p21 in response to DNA damage.  (+info)

Germline BRCA1 alterations in a population-based series of ovarian cancer cases. (6/1487)

The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 ( BRCA1 ) germline alterations in the ovarian cancer population. To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases. This is the first population-based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region. One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing. Two truncating mutations, 962del4 and 3600del11, were identified. Both patients had a family history of breast or ovarian cancer. Several novel as well as previously reported uncharacterized variants were also identified, some of which were associated with a family history of cancer. The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele-specific amplification. The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. In summary, our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk, and highlight the necessity to screen for missense alterations as well as truncating mutations in this population.  (+info)

Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. (7/1487)

Germline mutations of the Brca1 tumor suppressor gene predispose women to breast and ovarian cancers. To study mechanisms underlying BRCA1-related tumorigenesis, we derived mouse embryonic fibroblast cells carrying a targeted deletion of exon 11 of the Brca1 gene. We show that the mutant cells maintain an intact G1-S cell cycle checkpoint and proliferate poorly. However, a defective G2-M checkpoint in these cells is accompanied by extensive chromosomal abnormalities. Mutant fibroblasts contain multiple, functional centrosomes, which lead to unequal chromosome segregation, abnormal nuclear division, and aneuploidy. These data uncover an essential role of BRCA1 in maintaining genetic stability through the regulation of centrosome duplication and the G2-M checkpoint and provide a molecular basis for the role of BRCA1 in tumorigenesis.  (+info)

Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. (8/1487)

Reduced expression of BRCA1 has been reported in sporadic breast cancer, although the mechanisms underlying this phenomenon remain unclear. Abnormal methylation leading to silencing of tumour suppressor genes has been implicated in tumorigenesis in a wide range of sporadic cancers. Therefore, we sought to determine the frequency of methylation within the BRCA1 promoter region in a large group of sporadic invasive breast (n =96) and ovarian (n = 43) carcinomas using Southern analyses. Overall, methylation was detected in 11% of breast cancer cases and in 5% of ovarian tumours. Methylation of the BRCA1 promoter region was strongly correlated with lack of estrogen and progesterone receptor expression. It is clear from the frequency of abnormal methylation of the BRCA1 promoter region, that this cannot be the sole mechanism mediating the reduced expression of BRCA1 that has previously been reported to occur in the majority of invasive sporadic breast tumours. Nevertheless this study suggests that abnormal methylation of the BRCA1 promoter may be important in tumorigenesis in a subset of sporadic breast and ovarian cancers.  (+info)

There are different types of Breast Neoplasms such as:

1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.

2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.

3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.

4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.

5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.

Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.

Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.

It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.

Benign ovarian neoplasms include:

1. Serous cystadenoma: A fluid-filled sac that develops on the surface of the ovary.
2. Mucinous cystadenoma: A tumor that is filled with mucin, a type of protein.
3. Endometrioid tumors: Tumors that are similar to endometrial tissue (the lining of the uterus).
4. Theca cell tumors: Tumors that develop in the supportive tissue of the ovary called theca cells.

Malignant ovarian neoplasms include:

1. Epithelial ovarian cancer (EOC): The most common type of ovarian cancer, which arises from the surface epithelium of the ovary.
2. Germ cell tumors: Tumors that develop from germ cells, which are the cells that give rise to eggs.
3. Stromal sarcomas: Tumors that develop in the supportive tissue of the ovary.

Ovarian neoplasms can cause symptoms such as pelvic pain, abnormal bleeding, and abdominal swelling. They can also be detected through pelvic examination, imaging tests such as ultrasound and CT scan, and biopsy. Treatment options for ovarian neoplasms depend on the type, stage, and location of the tumor, and may include surgery, chemotherapy, and radiation therapy.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Causes:

* Genetic mutations
* Hormonal imbalance
* Use of certain medications
* Alcohol consumption
* Obesity

Symptoms:

* Swelling or lumps in the breast tissue
* Pain or tenderness in the breasts
* Nipple discharge
* Skin dimpling or puckering

Diagnosis:

* Physical examination
* Mammography (breast X-ray)
* Ultrasound imaging
* Biopsy (removing a small sample of tissue for examination under a microscope)

Treatment depends on the type and stage of the cancer, but may include:

* Surgery to remove the tumor and surrounding tissue
* Radiation therapy (using high-energy X-rays to kill cancer cells)
* Chemotherapy (using drugs to kill cancer cells)

Prognosis is generally good if the cancer is detected early, but it can be challenging to diagnose due to the rarity of breast cancer in men and the similarity of symptoms to other conditions.

The hallmark of HNS is the presence of multiple types of cancer, often at an early age and in multiple organs. The most common types of cancer associated with HNS are breast, ovarian, colon, stomach, pancreatic, brain, and skin cancers.

There are several different types of HNS, each caused by a mutation in a specific gene. These include:

1. Familial Adenomatous Polyposis (FAP): This is the most common type of HNS and is caused by a mutation in the APC gene. It is characterized by hundreds or thousands of adenomatous polyps (small growths) in the colon, which can become malignant over time.
2. Turcot Syndrome: This rare disorder is caused by a mutation in the APC gene and is characterized by the development of numerous polyps in the colon, as well as other physical features such as short stature, intellectual disability, and facial dysmorphism.
3. Hereditary Diffuse Gastric Cancer (HDGC): This syndrome is caused by a mutation in the CDH1 gene and is characterized by the development of diffuse gastric cancer, which is a type of stomach cancer that spreads throughout the stomach.
4. Peutz-Jeghers Syndrome (PJS): This rare disorder is caused by a mutation in the STK11 gene and is characterized by the development of polyps in the gastrointestinal tract, as well as other physical features such as pigmented macules on the skin and mucous membranes.
5. Li-Fraumeni Syndrome (LFS): This rare disorder is caused by a mutation in the TP53 gene and is characterized by an increased risk of developing several types of cancer, including breast, ovarian, and soft tissue sarcomas.

There are several other rare genetic disorders that can increase the risk of developing gastric cancer, including:

1. Hereditary Gastric Precancerous Condition (HGPC): This rare disorder is caused by a mutation in the E-cadherin gene and is characterized by the development of precancerous lesions in the stomach.
2. Familial Adenomatous Polyposis (FAP): This rare disorder is caused by a mutation in the APC gene and is characterized by the development of hundreds or thousands of colon polyps, as well as an increased risk of developing gastric cancer.
3. Turcot Syndrome: This rare disorder is caused by a mutation in the APC gene and is characterized by the development of colon polyps, as well as other physical features such as intellectual disability and facial dysmorphism.
4. MEN1 Syndrome: This rare disorder is caused by a mutation in the MEN1 gene and is characterized by an increased risk of developing multiple endocrine neoplasia, which can include gastric cancer.
5. Cowden Syndrome: This rare disorder is caused by a mutation in the PTEN gene and is characterized by an increased risk of developing various types of cancer, including gastric cancer.
6. Li-Fraumeni Syndrome: This rare disorder is caused by a mutation in the TP53 gene and is characterized by an increased risk of developing various types of cancer, including gastric cancer.

It's important to note that not all individuals with these genetic disorders will develop gastric cancer, and many other factors can contribute to the development of this disease. If you have a family history of gastric cancer or one of these rare genetic disorders, it's important to discuss your risk with a qualified healthcare professional and follow any recommended screening or prevention strategies.

Benign fallopian tube neoplasms include:

* Serous cystadenomas: These are fluid-filled sacs that grow on the lining of the fallopian tube. They are usually small and do not spread to other parts of the body.
* Mucinous cystadenomas: These are similar to serous cystadenomas, but they contain a thick, mucous-like fluid.
* Adenomas: These are small, glandular tumors that grow on the lining of the fallopian tube. They are usually benign but can sometimes become cancerous over time.

Malignant fallopian tube neoplasms include:

* Fallopian tube carcinoma: This is a rare form of cancer that originates in the fallopian tube. It can be either serous or endometrioid type, depending on the type of cells involved.
* Endometrial adenocarcinoma: This is a type of cancer that originates in the lining of the uterus (endometrium) and can also involve the fallopian tubes.

The symptoms of fallopian tube neoplasms can vary depending on their size, location, and type. Some common symptoms include:

* Abnormal vaginal bleeding
* Pelvic pain or discomfort
* Abdominal pain or swelling
* Difficulty urinating or defecating
* Weakness or fatigue

The diagnosis of fallopian tube neoplasms is based on a combination of imaging studies, such as ultrasound and computed tomography (CT) scans, and tissue sampling, such as biopsy or surgical removal of the tumor. Treatment options for fallopian tube neoplasms depend on the type, size, and location of the tumor, as well as the patient's age, overall health, and fertility status.

Treatment options for fallopian tube neoplasms can include:

* Surgical removal of the tumor: This is the most common treatment for fallopian tube neoplasms, and it involves removing the affected fallopian tube and any other affected tissues.
* Chemotherapy: This is a treatment that uses drugs to kill cancer cells, and it may be used in combination with surgery or as a standalone treatment for more advanced cancers.
* Radiation therapy: This is a treatment that uses high-energy rays to kill cancer cells, and it may be used in combination with surgery or chemotherapy.
* Hysterectomy: This is a surgical removal of the uterus, and it may be recommended for more advanced cancers that have spread beyond the fallopian tubes.
* Conservative management: In some cases, small, non-invasive tumors may be monitored with regular check-ups and imaging studies rather than undergoing immediate treatment.

The prognosis for fallopian tube neoplasms depends on several factors, including the type and stage of the cancer, the patient's age and overall health, and the effectiveness of the treatment. In general, the prognosis is good for women with early-stage tumors that are treated successfully, but the prognosis is poorer for women with more advanced cancers.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

The human BRCA1 protein consists of four major protein domains; the Znf C3HC4- RING domain, the BRCA1 serine domain and two ... The BRCA1 RING motif is flanked by alpha helices formed by residues 8-22 and 81-96 of the BRCA1 protein. It interacts with a ... A protein called valosin-containing protein (VCP, also known as p97) plays a role to recruit BRCA1 to the damaged DNA sites. ... BRCA1 also interacts with c-Myc, and other proteins that are critical to maintain genome stability. BRCA1 directly binds to DNA ...
BRCA1 associated protein is a protein that in humans is encoded by the BRAP gene. The protein encoded by this gene was ... "Entrez Gene: BRCA1 associated protein". Retrieved 2018-03-23. Matheny SA, Chen C, Kortum RL, Razidlo GL, Lewis RE, White MA ( ... identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein ... "Brap2 functions as a cytoplasmic retention protein for p21 during monocyte differentiation". Mol. Cell. Biol. 24 (18): 8236-43 ...
"The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity". J. ... Retinoblastoma-binding protein 8 is a protein that in humans is encoded by the RBBP8 gene. The protein encoded by this gene is ... "The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity". J. ... This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the ...
"Abnormal expression of BRCA1 and BRCA1-interactive DNA-repair proteins in breast carcinomas". International Journal of Cancer. ... DNA repair protein RAD51 homolog 1 is a protein encoded by the gene RAD51. The enzyme encoded by this gene is a member of the ... This protein can interact with the ssDNA-binding protein RPA, BRCA2, PALB2 and RAD52. The structural basis for Rad51 filament ... Daniel DC (October 2002). "Highlight: BRCA1 and BRCA2 proteins in breast cancer". Microscopy Research and Technique. 59 (1): 68 ...
Amongst known FANC proteins, most evidence points for a direct interaction primarily between FANCA protein and BRCA1. Evidence ... This mechanic is also supported by the protein-protein interactions between BRG1 and both BRCA1 and FANCA, that serve to ... Instead BRCA1 protein may be more crucial in the detection of double stranded DNA breaks, or an intermediate in interstrand ... Interactions between BRCA1 and many FANC proteins have been investigated. ...
"Novel consensus DNA-binding sequence for BRCA1 protein complexes". Molecular Carcinogenesis. 38 (2): 85-96. doi:10.1002/mc. ... "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi: ... Upstream stimulatory factor 2 is a protein that in humans is encoded by the USF2 gene. This gene encodes a member of the basic ... The encoded protein can activate transcription through Pyridine-rich initiator (Inr) elements and E-box motifs. Two transcript ...
Liu Y, Virshup DM, White RL, Hsu LC (November 2002). "Regulation of BRCA1 phosphorylation by interaction with protein ... This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial ... Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled ... receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an ...
Fanconi anemia group J protein is a protein that in humans is encoded by the BRCA1-interacting protein 1 (BRIP1) gene. The ... "Entrez Gene: BRIP1 BRCA1 interacting protein C-terminal helicase 1". Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, ... Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, Livingston DM (February 2004). "The BRCA1-associated protein BACH1 is a ... In part, BRIP1 carries out its function through interaction with other key DNA repair proteins, specifically MLH1, BRCA1 and ...
It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor ... Histone-binding protein RBBP7 is a protein that in humans is encoded by the RBBP7 gene. This protein is a ubiquitously ... Yarden RI, Brody LC (2001). "Identification of proteins that interact with BRCA1 by Far-Western library screening". J. Cell. ... Yarden RI, Brody LC (2002). "Identification of proteins that interact with BRCA1 by Far-Western library screening". J. Cell. ...
... breast cancer type 1 susceptibility protein (BRCA1), p16, and p14). Proteins that induce apoptosis. If damage cannot be ... Savage KI, Harkin DP (February 2015). "BRCA1, a 'complex' protein involved in the maintenance of genomic stability". The FEBS ... These proteins are known as metastasis suppressors. (e.g., CADM1) Proteins involved in repairing mistakes in DNA. Caretaker ... Retinoblastoma protein (pRb). pRb was the first tumor-suppressor protein discovered in human retinoblastoma; however, recent ...
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (2000). "BASC, a super complex of BRCA1-associated proteins involved in ... DNA repair protein RAD50, also known as RAD50, is a protein that in humans is encoded by the RAD50 gene. The protein encoded by ... Rad50 has been shown to interact with: BRCA1, MRE11A, NBN, RINT1, TERF2IP, and TERF2. Rad50 protein has been mainly studied in ... 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". ...
Chiba N, Parvin JD (October 2001). "Redistribution of BRCA1 among four different protein complexes following replication ... Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene. Nibrin is a protein associated with ... ICP8, which is a viral single-strand binding protein, is known to interact with several DNA repair proteins, such as Rad50, ... a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes Dev. 14 ...
Chiba, N; Parvin J D (Oct 2001). "Redistribution of BRCA1 among four different protein complexes following replication blockage ... Chiba N, Parvin JD (2001). "Redistribution of BRCA1 among four different protein complexes following replication blockage". J. ... This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which ... The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with ...
Vincent A, Berthel E, Dacheux E, Magnard C, Venezia NL (April 2016). "BRCA1 affects protein phosphatase 6 signalling through ... If the PLA probes are in proximity (that is, if the two original proteins of interest are in proximity, or part of a protein ... Wang S, Yoo S, Kim HY, Wang M, Zheng C, Parkhouse W, Krieger C, Harden N (January 2015). "Detection of in situ protein-protein ... is a technology that extends the capabilities of traditional immunoassays to include direct detection of proteins, protein ...
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (April 2000). "BASC, a super complex of BRCA1-associated proteins involved ... Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (April 2000). "BASC, a super complex of BRCA1-associated proteins involved ... By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 ... Chiba N, Parvin JD (October 2001). "Redistribution of BRCA1 among four different protein complexes following replication ...
Chiba N, Parvin JD (October 2001). "Redistribution of BRCA1 among four different protein complexes following replication ... Kim JB, Yamaguchi Y, Wada T, Handa H, Sharp PA (September 1999). "Tat-SF1 protein associates with RAP30 and human SPT5 proteins ... Scully R, Anderson SF, Chao DM, Wei W, Ye L, Young RA, Livingston DM, Parvin JD (May 1997). "BRCA1 is a component of the RNA ... Suñé C, Hayashi T, Liu Y, Lane WS, Young RA, Garcia-Blanco MA (October 1997). "CA150, a nuclear protein associated with the RNA ...
"NUSAP1 influences the DNA damage response by controlling BRCA1 protein levels". Cancer Biol. Ther. 15 (5): 533-43. doi:10.4161/ ... Nucleolar and spindle associated protein 1 is a protein that in humans is encoded by the NUSAP1 gene. NUSAP1 is a nucleolar- ... "High Levels of Nucleolar Spindle-Associated Protein and Reduced Levels of BRCA1 Expression Predict Poor Prognosis in Triple- ... "Entrez Gene: Nucleolar and spindle associated protein 1". Retrieved 2018-05-22. Wadia PP, Coram M, Armstrong RJ, Mindrinos M, ...
"Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1". Cancer ... Nishikawa H, Wu W, Koike A, Kojima R, Gomi H, Fukuda M, Ohta T (Jan 2009). "BRCA1-associated protein 1 interferes with BRCA1/ ... BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) is a deubiquitinating enzyme that in humans is encoded by the ... "Entrez Gene: BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)". Gaytán de Ayala Alonso A, Gutiérrez L, ...
Mutations in the BRCA1 gene or absence of functional BRCA1 protein contributes to breast, ovarian, and prostate cancer ... The BRCA1 protein, a tumor suppressor that functions in DNA repair, binds preferentially to cruciform structures. ... Brázda V, Hároníková L, Liao JC, Fridrichová H, Jagelská EB (June 2016). "Strong preference of BRCA1 protein to topologically ... and serving as targets for protein to bind to the DNA. A multitude of cruciform-binding proteins have been found to interact ...
FANCC together with FANCE acts as the substrate adaptor for this reaction Activated FANCD2 protein co-localizes with BRCA1 ( ... Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. The protein encoded by this gene ... Gordon SM, Buchwald M (Jul 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ... "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Mol. Cell. 7 (2): 249-62. doi:10.1016/s1097-2765(01) ...
... activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein). FANCD2 mutant mice exhibit chromosome ... February 2001). "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Molecular Cell. 7 (2): 249-62. doi: ... February 2001). "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Molecular Cell. 7 (2): 249-62. doi: ... This protein is monoubiquitinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins ...
Yarden RI, Brody LC (2002). "Identification of proteins that interact with BRCA1 by Far-Western library screening". J. Cell. ... Paternally-expressed gene 3 protein is a protein that in humans is encoded by the PEG3 gene. PEG3 is an imprinted gene ... 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. ... Chartrain I, Couturier A, Tassan JP (2006). "Cell-cycle-dependent cortical localization of pEg3 protein kinase in Xenopus and ...
"Entrez Gene: RPL31 ribosomal protein L31". Yarden RI, Brody LC (2001). "Identification of proteins that interact with BRCA1 by ... 60S ribosomal protein L31 is a protein that in humans is encoded by the RPL31 gene. Ribosomes, the organelles that catalyze ... The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of ... Overview of all the structural information available in the PDB for UniProt: P62899 (Human 60S ribosomal protein L31) at the ...
... together with FANCC acts as the substrate adapter for this reaction Activated FANCD2 protein co-localizes with BRCA1 ( ... Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE gene. The Fanconi anemia ... This gene encodes the protein for complementation groufcrp E. A nuclear complex containing FANCE protein (as well as FANCC, ... Gordon SM, Buchwald M (July 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ...
Activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein) at ionizing radiation-induced foci and ... Fanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene. FANCG, involved in Fanconi anemia, ... Gordon SM, Buchwald M (July 2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid ... BRCA1), but the exact biochemical roles of these proteins is currently unclear. A nuclear complex containing FANCG (as well as ...
Yarden RI, Brody LC (2002). "Identification of proteins that interact with BRCA1 by Far-Western library screening". J. Cell. ... Protein Wnt-2b (formerly Wnt13) is a protein that in humans is encoded by the WNT2B gene. This gene encodes a member of the ... Smolich BD, McMahon JA, McMahon AP, Papkoff J (1994). "Wnt family proteins are secreted and associated with the cell surface". ...
"S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51". Blood. 100 (7): 2414-20. doi:10.1182 ... This gene encodes a protein that functions in genome maintenance (double strand break repair). This protein binds to and ... Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the PALB2 gene. ... Sobeck A, Stone S, Landais I, de Graaf B, Hoatlin ME (September 2009). "The Fanconi anemia protein FANCM is controlled by ...
Xu X, Lee J, Stern DF (August 2004). "Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1 ... Microcephalin proteins contain the following three domains: N-terminal BRCT domain Central microcephalin protein domain ( ... July 2002). "Identification of microcephalin, a protein implicated in determining the size of the human brain". American ... CDK5RAP and BRCA1 not associated with general cognition, reading or language". Intelligence. 36 (6): 689-93. doi:10.1016/j. ...
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (2000). "BASC, a super complex of BRCA1-associated proteins involved in ... that is detected by the FANCM protein. Following assembly, the protein core complex activates FANCL protein which acts as an E3 ... 2001). "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Mol. Cell. 7 (2): 249-262. doi:10.1016/S1097 ... Recent studies have shown that eight of these proteins, FANCA, -B, -C, -E, -F, -G, -L and -M, assemble to form a core protein ...
Neighbor of BRCA1 gene 1 protein is a protein that in humans is encoded by the NBR1 gene. The protein encoded by this gene was ... 2002). "NBR1 interacts with fasciculation and elongation protein zeta-1 (FEZ1) and calcium and integrin binding protein (CIB) ... 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-1178. Bibcode: ... "A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1". Hum Mol Genet. 3 (4): 589-594. doi:10.1093/hmg/3.4. ...
Tyrosine-protein kinase ABL1 also known as ABL1 is a protein that, in humans, is encoded by the ABL1 gene (previous symbol ABL ... ABL gene has been shown to interact with: ABI1, ABI2, ABL2, ATM, BCAR1, BCR, BRCA1, CAT, CBL, CRKL, DOK1, EPHB2, GPX1, GRB10, ... Welch PJ, Wang JY (November 1993). "A C-terminal protein-binding domain in the retinoblastoma protein regulates nuclear c-Abl ... Yamanashi Y, Baltimore D (January 1997). "Identification of the Abl- and rasGAP-associated 62 kDa protein as a docking protein ...
On a protein level, structure is less conserved than sequence. Therefore, in many diseases, having the faulty gene still does ... Association and correlation studies have found that a female individual with a mutation in the BRCA1 gene has a 65% cumulative ... May 2003). "Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series ... Myriad Genetics is already generating revenue from genetic tests for BRCA1 and BRCA2. Aside from genetic testing, predictive ...
Furthermore, SINEs frequently contain motifs for YY1 polycomb proteins. YY1 is a zinc-finger protein that acts as a ... 2013 demonstrated that high SINE RNA expression correlates with post-transcriptional downregulation of BRCA1, a tumor ... Thereafter, one of the strands is incorporated into a multi-protein RNA-induced silencing complex (RISC). Among these proteins ... encodes a protein which binds to RNA and acts as a chaperone to facilitate and maintain the LINE protein-RNA complex structure ...
Substantial evidence indicates that the capability to repair DNA double strand breaks by a repair pathway involving BRCA1 ( ... Breast cancer type 1 susceptibility) protein and ATM (ataxia-telangiectasia mutated) serine/threonine kinase weakens with age ... In general, women with BRCA1 mutations have lower ovarian reserves and experience earlier menopause. Paternal age effect ...
Transport protein ZIP1 is responsible for the transport of zinc into prostate cells. One of zinc's important roles is to change ... Mutations in BRCA1 and BRCA2 (important risk factors for ovarian cancer and breast cancer in women) have also been implicated. ... May 1997). "The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews". The New England ... Ford OH, Gregory CW, Kim D, Smitherman AB, Mohler JL (November 2003). "Androgen receptor gene amplification and protein ...
Vogel has studied the mechanisms involved with protein signalling. The creation of proteins involve messenger RNA molecules ... Mutations on the BRCA1 means that damage to DNA cannot be repaired, such that cells mutate and cause cancer. Vogel believes ... Both the generation of RNA and formation of proteins are coupled to one another, akin to the coupling of a moving escalator ... Vogel has shown that both processes, the generation of RNA and the arrangement of RNA into proteins, are important. She ...
... bone morphogenetic protein - bradykinin - bradykinin receptor - BRCA1 - buffer solution C-terminus - C4 photosynthesis - ... protein - protein biosynthesis - Protein Data Bank - protein design - protein expression - protein folding - protein isoform - ... protein P16 - protein P34cdc2 - protein precursor - protein structure prediction - protein subunit - protein synthesis - ... proto-oncogene protein C-kit - proto-oncogene proteins c-abl - proto-oncogene proteins c-bcl-2 - Proto-oncogene proteins c-fos ...
Protein synthesis and protein degradation decline with age in skeletal and heart muscle, as would be expected, since DNA damage ... BRCA1 and BRCA2 are homologous recombination repair genes. The role of declining ATM-Mediated DNA double strand DNA break (DSB ... found numerous changes in protein expression in rat skeletal muscle with age, including lower levels of several proteins ... Cai Q, Fu L, Wang Z, Gan N, Dai X, Wang Y (2014). "α-N-methylation of damaged DNA-binding protein 2 (DDB2) and its function in ...
... a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function". Cell. 105 (1): 149-60 ... Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene. This gene encodes a ... The C-terminus of the protein is a leucine zipper of the bzip_maf family. When this protein forms a heterodimer with MafK, it ... These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. ...
FBXL5 regulates the stability of the iron regulatory protein (IR2), which in turn controls the stability of proteins ... HERC2 is known to interact with the following: RNF8 FBXL5 OCA2 UBC13 USP20 XPA Claspin E6AP NEURL4 RNF168 BRCA1 p53 LRRK2 ... low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is ... "The E3 ubiquitin protein ligase HERC2 modulates the activity of tumor protein p53 by regulating its oligomerization". The ...
"A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957-68. doi:10.1016/j.cell ... BRE is a component of the BRCA1-A complex, which recognizes Lys-63 linked ubiquitinated histones H2A and H2AX DNA lesion sites ... DHRS7B encodes a protein that is predicted to function in steroid hormone regulation. A deletion in the chromosomal region ... The DHRS7B gene has a predicted protein product that is 325 amino acids, a molecular weight of 35.1 kDa, and an isoelectric ...
Hu H, Zhang Y, Zou M, Yang S, Liang XQ (September 2010). "Expression of TRF1, TRF2, TIN2, TERT, KU70, and BRCA1 proteins is ... There are 4 domain categories on the TERF2 protein that allow it to bind to both other proteins in the shelterin protein ... TERF2 is also known to recruit certain client proteins, also known as accessory factors. These client proteins are often ... and BRCA1 protein transposition, may cause a reduction in telomere length, further contributing to multistage carcinogenesis of ...
The nuclear receptor coactivator 2 also known as NCoA-2 is a protein that in humans is encoded by the NCOA2 gene. NCoA-2 is ... Rodriguez M, Yu X, Chen J, Songyang Z (2003). "Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains". J. ... Chen D, Ma H, Hong H, Koh SS, Huang SM, Schurter BT, Aswad DW, Stallcup MR (1999). "Regulation of transcription by a protein ... Naltner A, Ghaffari M, Whitsett JA, Yan C (2000). "Retinoic acid stimulation of the human surfactant protein B promoter is ...
"Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in sporadic breast ... miRNAs do not code for proteins, but can "target" protein-coding genes and reduce their expression. Cancers usually arise from ... An average cancer of the breast or colon can have about 60 to 70 protein-altering mutations, of which about three or four may ... Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast ...
Liu Y, Virshup DM, White RL, Hsu LC (November 2002). "Regulation of BRCA1 phosphorylation by interaction with protein ... The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/ ... Hung WJ, Roberson RS, Taft J, Wu DY (May 2003). "Human BAG-1 proteins bind to the cellular stress response protein GADD34 and ... Schillace RV, Scott JD (March 1999). "Association of the type 1 protein phosphatase PP1 with the A-kinase anchoring protein ...
BRCA1 and BRCA2 polymorphic variants can increase the risk of breast cancer, and these cancers tend to express a pr ofile of ... HER2-low has some HER2 proteins on the cell surface, but not enough to be classified as HER2-positive. Trastuzumab deruxtecan ... Jerevall PL, Jansson A, Fornander T, Skoog L, Nordenskjöld B, Stål O (2010). "Predictive relevance of HOXB13 protein expression ... Tumors overexpressing the Wnt signaling pathway co-receptor low-density lipoprotein receptor-related protein 6 (LRP6) may ...
The BRCA1 gene is another tumor suppressor gene in humans which encodes the BRCA1 protein that is involved in response to DNA ... coordinating the cellular localization of proteins, activating and inactivating proteins, and modulating protein-protein ... The protein contains a RING motif with E3 Ubiquitin Ligase activity. BRCA1 could form dimer with other molecules, such as BARD1 ... Kim H, Chen J, Yu X (May 2007). "Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response". Science. 316 ( ...
DNA repair protein RAD51 homolog 4 is a protein that in humans is encoded by the RAD51L3 gene. The protein encoded by this gene ... "The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 ... This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein ... Liu N, Schild D, Thelen MP, Thompson LH (2002). "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in ...
"Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. Bibcode:2005Natur. ... Low SMUG1 expression is also associated with BRCA1, ATM, XRCC1, implying genomic instability in SMUG1 low tumors. Preclinical ... "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173-8. Bibcode:2005Natur. ... Click on genes, proteins and metabolites below to link to respective articles. [[File ...
Scully R, Anderson SF, Chao DM, Wei W, Ye L, Young RA, Livingston DM, Parvin JD (May 1997). "BRCA1 is a component of the RNA ... GTF2F1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) FactorBook GTF2F1 This article ... Scully R, Anderson SF, Chao DM, Wei W, Ye L, Young RA, Livingston DM, Parvin JD (1997). "BRCA1 is a component of the RNA ... General transcription factor IIF subunit 1 is a protein that in humans is encoded by the GTF2F1 gene. GTF2F1 has been shown to ...
2002). "Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations". ... "The BRC repeats are conserved in mammalian BRCA2 proteins". Human Molecular Genetics. 6 (1): 53-8. doi:10.1093/hmg/6.1.53. PMID ... which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene". Nature Genetics. 39 (2): 165-7. doi:10.1038 ...
SIN3 BRCA1 CREBBP Nicolas, E.; Ait-Si-Ali, S; Trouche, D (2001). "The histone deacetylase HDAC3 targets RbAp48 to the ... CREB-binding protein, also known as CREBBP or CBP, is a protein that is encoded by the CREBBP gene in humans. The CREB protein ... Proteins RbAp48 is a key player in the assembly of nucleosomes. RbAp48 protein is a subunit of the chromatin-assembly factor-1 ... RbAp48 protein is also found in numerous other protein complexes for regulation of chromatin structure. Studies show that ...
April 2003). "Negative regulation of BRCA1 gene expression by HMGA1 proteins accounts for the reduced BRCA1 protein levels in ... A class of checkpoint mediator proteins including BRCA1, MDC1, and 53BP1 has also been identified. These proteins seem to be ... In E. coli , the proteins involved are the Mut class proteins: MutS, MutL, and MutH. In most Eukaryotes, the analog for MutS is ... Checkpoint Proteins can be separated into four groups: phosphatidylinositol 3-kinase (PI3K)-like protein kinase, proliferating ...
The third pocket protein, Rb, binds to and represses E2F 1, E2F 2, and E2F 3, which are the E2F proteins with activating ... Perhaps most famously, single mutant inheritance of BRCA1 or BRCA2 predisposes females toward breast and ovarian cancers. BRCA1 ... It was additionally shown that blocking Mos protein synthesis makes the MAPK-P responses more graded, showing that Mos protein ... The latter is a protein whose function is to inhibit separase, which in turn cuts the cohesins, the protein composite ...
... interacts physically with BRCA1 in the nucleus of living cells". DNA and Cell Biology. 19 (5): 253-63. doi:10.1089/ ... For example, it can be stimulated by heat or by a putative substrate protein. In Leishmania infantum, the LiVCP protein is ... The general function of p97/CDC48 is to segregate proteins from large protein assembly or immobile cellular structures such as ... Recent proteomic studies have identified a large number of p97-interacting proteins. Many of these proteins serve as adaptors ...
launched Evidence, the first protein Biochip Array Technology analyzer in 2003. In protein Biochip Array Technology, the ... and BRCA1 and BRCA2 (related to breast cancer). The chips are produced by using microlithography techniques traditionally used ... 467-470, 1995 G. MacBeath, A. N. Koehler, and S. L. Schreiber, "Printing small molecules as microarrays and detecting protein- ... Microarrays are not limited to DNA analysis; protein microarrays, antibody microarray, chemical compound microarray can also be ...
BCBP Seminar: How to Ubiquitylate a Protein: What studying BRCA1 taught us about Parkin. February 7, 2017 @ 11:00 am - 12:00 pm ... Home / Events / BCBP Seminar: How to Ubiquitylate a Protein: What studying BRCA1 taught us about Parkin ...
SELDI-TOF protein profiles from this small pilot study distinguished between women with BRCA-1 Ca, Carriers, and women with SBC ... BRCA-1 women were later divided into two cohorts, pending cancer development. The sera were spotted onto protein chips for ... BRCA-1 Ca patients (n = 15) developed cancer within 3 years of baseline, while BRCA-1 carriers (n = 15) were cancer-free in 7 ... Surfaced-enhanced laser desorption/ionization time-of-flight (SELDI-TOF) differentiation of serum protein profiles of BRCA-1 ...
BRCA1 Protein Antibody Manufactured by Gentaur. Gentaur is the biggest antibody manufacturer worldwide. ... BRCA1 Protein Antibody , Gentaur. (No reviews yet) Write a Review Write a Review. ... Protein A ELISA Kit , F050 Protein A ELISA Kit is intended for use in quantitating Protein A ligands from natural ( ... PCV2 Cap Protein Antibody , 13-ORB312690 Product Name: PCV2 Cap protein antibody Catalog Number: orb312690 Species/Host: Rabbit ...
The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. Learn about this gene and related ... Most BRCA1 gene mutations lead to the production of an abnormally short version of the BRCA1 protein or prevent any protein ... The BRCA1 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein ... the BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell ...
BRCA1-associated protein 1 expression and prognostic role in prostate adenocarcinoma. Harim Oh, Yoo Jin Lee, Sung Gu Kang, ... Dive into the research topics of BRCA1-associated protein 1 expression and prognostic role in prostate adenocarcinoma. ...
BRCA1 Protein (MeSH descriptor). adiponutrin (SCR). Flagging Proteins The policy for flagging proteins that are not in MeSH is ... New SCR protein records will be created only for proteins from the 11 model organisms listed below and for proteins from non- ... This subcategory includes many general pre-coordinated terms, such as BACTERIAL PROTEINS, EYE PROTEINS, PREGNANCY PROTEINS, ... In addition to these general terms, there are many specific protein terms as either MeSH descriptors or SCR terms. ...
VeraChems protein-ligand binding free energy software VM2 used in study of ligand binding to Breast-Cancer-Gene 1 (BRCA1) C- ... VeraChems protein-ligand binding affinity software VM2 applied to the study of p38a MAP kinase Scientific Publications ... VeraChems protein-ligand binding free energy software VM2 used in the study "Characterization of Promiscuous Binding of ... VeraChem is pleased to announce the release of VM2 3.0, the latest version of its software for the calculation of protein- ...
... protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 ... protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 ... protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 ... protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 ...
Breast cancer associated protein, BRCA1‎ (12 F). *. Breast cancer awareness‎ (7 C, 44 F) ... Mutação dos genes BRCA1 e BRCA2 de portadoras de câncer de mama.png 628 × 439; 86 KB. ... BRCA1 and BRCA2 mutations and absolute cancer risk (Updated version- 2023).jpg 1,920 × 1,197; 199 KB. ... BRCA1 and BRCA2 mutations and absolute cancer risk (Updated-2023).jpg 1,949 × 623; 244 KB. ...
... gBRCA1/2+). The BRCA1 and BRCA2 proteins are involved in DNA repair by homologous recombination. This review will focus on ... Advances in the use of PARP inhibitors for BRCA1/2-associated breast cancer: talazoparib Kelly E McCann. Future Oncol. 2019 May ... Advances in the use of PARP inhibitors for BRCA1/2-associated breast cancer: talazoparib Kelly E McCann 1 ... Phase I, Dose-Escalation, Two-Part Trial of the PARP Inhibitor Talazoparib in Patients with Advanced Germline BRCA1/2 Mutations ...
I am happy to report that my research paper on a protein implicated in breast and lung cancer, called BAP1 (BRCA1-associated ... protein-1), was recently accepted for publication in the journal Cancer Research. As you know, my research studies are in the ...
Researchers discovered an unexpected way that breast cancers cells with mutant BRCA1 or BRCA2 genes become resistant to ... When a replication fork stalls, the BRCA1 and BRCA2 proteins protect the newly synthesized strands of DNA. When these proteins ... BRCA1 and BRCA2 are human proteins that help to repair damaged DNA. When either of these genes is mutated, or altered, the ... The researchers identified several proteins that actively promote destabilization of replication forks. These proteins, which ...
BRCA1-Associated Protein-1;. CPDS;. DNA methyltransferases (DNMT);. DNMT1;. ring finger domains 1 (UHRF1);. germline antigens; ... Participants with history of germline BRCA1-Associated Protein-1 (BAP1) mutations. - Histologically confirmed by NCI LP ... treatment in subjects with BRCA1-Associated Protein-1 (BAP1) Cancer Predisposition Syndrome (CPDS) and subclinical, early-stage ...
BRCA1 Protein / genetics* Actions. * Search in PubMed * Search in MeSH * Add to Search ... Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers. Buckley KH, Niccum BA, Maxwell KN, Katona BW. Buckley KH, et ... In part A, cohorts of three to six patients, enriched for BRCA1 and BRCA2 mutation carriers, received niraparib daily at ten ... Eight (40% [95% CI 19-64]) of 20 BRCA1 or BRCA2 mutation carriers with ovarian cancer had RECIST partial responses, as did two ...
The key proteins in HR, BRCA1, and BRCA2 are two important tumor suppressors. In the absence of these two proteins, the rate of ... Replication Protein A2 (RPA2), Replication Protein A3 (RPA3), and other DNA damage repair proteins, as determined by protein- ... Predicted protein-protein interaction network (DIGGER). (f) Predicted protein-protein interaction network (STRING). (g) m6A ... BRCA1 DNA Repair Associated (BRCA1), RAD51 Paralog D (RAD51D), BLM RecQ Like Helicase (BLM), BRCA1-associated RING domain 1 ( ...
Sideroflexin 4 (SFXN4) is a little-studied inner mitochondrial membrane protein. Here we demonstrate that SFXN4 plays a role in ... Similarly, mutations in FANCJ, a protein that physically interacts with breast cancer type 1 susceptibility protein (BRCA1)32 ... Cantor, S. B. et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair ... Reduction in levels of SFXN4 did not affect non-Fe-S containing proteins, including GAPDH, tubulin, the mitochondrial protein ...
MeSH Terms: 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide/pharmacology*; BRCA1 Protein/metabolism*; Benzo(a)pyrene/ ... We report that benzo[a]pyrene (B[a]P), selected as a prototype PAH, disrupts BRCA-1 transcription in estrogen receptor (ER)- ... The reduced potential for BRCA-1 expression in B[a]P-treated cells coincides with disruption of cell cycle kinetics and ... and in breast cancer cells expressing mutant p53 or the E6 human papilloma virus protein. We suggest that exposure to PAHs may ...
Name: BRCA1 interacting protein C-terminal helicase 1. Synonyms: 8030460J03Rik, BACH1, 3110009N10Rik ...
BRCA1 and BRCA2 genes create tumor-suppressing proteins and help repair damaged DNA. But when these genes are mutated, they ...
7. BRCA1-associated protein (BAP1)-inactivated melanocytic tumors.. Zhang AJ; Rush PS; Tsao H; Duncan LM. J Cutan Pathol; 2019 ...
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder ...
use BRCA1 PROTEIN (NM) to search BRCA1 PROTEIN 1994-96. History Note. 97; was BRCA1 PROTEIN (NM) 1994-96. Date Established. ... Proteins [D12.776] * Phosphoproteins [D12.776.744] * bcl-Associated Death Protein [D12.776.744.049] * BRCA1 Protein [D12.776. ... Proteins [D12.776] * Fanconi Anemia Complementation Group Proteins [D12.776.313] * BRCA1 Protein [D12.776.313.125] ... Amino Acids, Peptides, and Proteins [D12] * Proteins [D12.776] * Neoplasm Proteins [D12.776.624] * Tumor Suppressor Proteins [ ...
The first 13 Fanconi anemia proteins have discrete functions, with A, B, C, E, F, G, L, and M appearing to form a nuclear ... The latter is involved in DNA damage response mechanisms in cooperation with FANCD1, FANCJ, and FANCN, as well as BRCA1, RAD51 ... The designation of the extremely rare proteins O and P remains controversial. ... Mre11, and other proteins. The widely variant Fanconi anemia phenotype may depend not on the specific gene involved but on ...
Patients with rare protein-truncating variants tended to have aggressive tumors while those with a high polygenic risk score ... BRCA1/2 protein-truncating variants after the removal of BRCA1/2 carriers." ... They found that women with rare protein-truncating variants in non-BRCA1/2 genes had 1.76 times the risk of death compared to ... Women with low breast density who carried protein-truncating mutations in non-BRCA1/2 genes still had a 1.89 times increased ...
BRCA1/2 mutations), and obesity. The Gleason scoring system is used for histopathological staging and is combined with clinical ... BRCA1 and 2 are homologous recombination proteins, mutations which are more common among Ashkenazi Jewish populations and ... BRCA1 has been shown to confer a smaller risk [19,20]. BRCA2 carriers are recommended for prostate cancer screening beginning ... The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate ...
Therefore an inherited mutation to BRCA1, rendering its protein product defective, would manifest in reduced mitochondrial ... the 420th amino acid position on a huge protein molecule (DBP), one of tens of thousands of proteins, each containing millions ... Inheriting a faulty BRCA1 gene jumps the risk of acquiring breast cancer in a womens lifetime to 60% from 12%. Among other ... Nagalase is a protein made by all cancer cells and viruses (HIV, hepatitis B, hepatitis C, influenza, herpes, Epstein-Barr ...
The UIM-containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response. Cancer Research 14:6647-6656 ... 64: 97-129 (2000) [Abstract Jetten, A.M., and Suter U. The peripheral myelin protein 22 and epithelial membrane protein family ... Jetten, A.M., and Suter U. The peripheral myelin protein 22 and epithelial membrane protein family. Structure, function, ... The UIM-containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response. Cancer Research 14:6647-6656 ...
Genetics plays a critical role in MM when the disease occurs in carriers of germline BRCA1 associated protein 1 mutations. ... Moreover, it appears likely that, in addition to BRCA1 associated protein 1, other yet unknown genetic variants may also ... Proteins; Genes; Therapeutic agents; Author Keywords: Mesothelioma; BAP1; Asbestos; Erionite; Biomarkers; Genetics; Therapy ...
These results demonstrate for the first time the presence of a second p53 interaction domain in BRCA1 proteins and suggests ... These results suggest that one of the mechanisms by which BRCA1 proteins function is through recruitment of CBP/p300 associated ... Solution structure of the BRCT-c domain from human BRCA1. 1t15. Crystal Structure of the Brca1 BRCT Domains in Complex with the ... Protein. Disease. Breast cancer type 1 susceptibility protein (P38398) (SMART). OMIM:113705: Breast cancer-1 ; Ovarian cancer ...
Some examples of the above mentioned phenomena include: (i) hypersensitivity of BRCA1 mutant breast cancer cells to inhibitors ... of the DNA repair protein PARP1; (ii) sensitivity of p53-deficient cells to Check point kinase 1 (CHK1) inhibition; and (iii) ... identified genomic abnormalities and attendant changes in gene and/or protein expression profiles in human oral cancer samples ...
  • Mutations in the BRCA1 gene are associated with an increased risk of breast cancer in both men and women, as well as several other types of cancer. (medlineplus.gov)
  • Most BRCA1 gene mutations lead to the production of an abnormally short version of the BRCA1 protein or prevent any protein from being made from one copy of the gene. (medlineplus.gov)
  • As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. (medlineplus.gov)
  • Many of the same BRCA1 gene mutations that increase the risk of breast cancer (described above) also increase the risk of ovarian cancer. (medlineplus.gov)
  • Women with BRCA1 gene mutations have a 35 to 60 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. (medlineplus.gov)
  • Inherited BRCA1 gene mutations have been found to increase the risk of prostate cancer. (medlineplus.gov)
  • These mutations likely reduce the BRCA1 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. (medlineplus.gov)
  • Inherited mutations in the BRCA1 gene also increase the risk of several other types of cancer, including pancreatic cancer and colon cancer. (medlineplus.gov)
  • These mutations impair the ability of the BRCA1 protein to help repair damaged DNA. (medlineplus.gov)
  • It is not clear why different individuals with BRCA1 mutations develop cancers in different organs. (medlineplus.gov)
  • Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. (medlineplus.gov)
  • Molecular similarities between BLBCs and BRCA1-mutated tumors may therefore provide predictive markers for therapeutic response of BLBCs.Methods: There are several known molecular features characteristic for BRCA1-mutated breast tumors: 1) increased numbers of genomic aberrations, 2) a distinct pattern of genomic aberrations, 3) a high frequency of TP53 mutations and 4) a high incidence of complex, protein-truncating TP53 mutations. (vumc.nl)
  • Together, BRCA1 and BRCA 2 mutations account for about 20-25% of hereditary breast cancers and 5-10% of all breast cancers. (nih.gov)
  • Participants with history of germline BRCA1-Associated Protein-1 (BAP1) mutations. (nih.gov)
  • Li and colleagues also evaluated this subset of women after excluding 92 patients who carried BRCA1/2 mutations, since these are known to be associated with poor prognosis, diagnosis at a younger age, estrogen receptor negativity, and basal-like subtype. (genomeweb.com)
  • The researchers then analyzed genetic data from the 5,077 women who did not carry BRCA1/2 mutations with the polygenic risk score and found that a higher score was associated with less aggressive tumor phenotypes. (genomeweb.com)
  • Inherited mutations in the breast and ovarian cancer susceptibility gene BRCA1 are associated with high risk for developing breast and ovarian cancers. (embl.de)
  • Genetics plays a critical role in MM when the disease occurs in carriers of germline BRCA1 associated protein 1 mutations. (cdc.gov)
  • PARP inhibitors (PARPis) are being used in patients with BRCA1/2 mutations. (tu-darmstadt.de)
  • BRCA1 mutations are estimated to account for about a third of all inherited breast cancers and roughly 2-3 percent of all breast cancers. (ecancer.org)
  • The mutations occur in exon 11 and proximal part of exon 12 and are strongly conserved at the protein level across various species. (biomedcentral.com)
  • The BRCA2 protein, which has a function similar to that of BRCA1, also interacts with the RAD51 protein. (indiabix.com)
  • Research suggests that the BRCA1 protein also regulates the activity of other genes and plays an essential role in embryonic development. (medlineplus.gov)
  • Researchers discovered an unexpected way that breast cancers cells with mutant BRCA1 or BRCA2 genes acquire drug resistance and evade chemotherapies. (nih.gov)
  • When either of these genes is mutated, or altered, the resulting abnormal proteins may be unable to properly repair DNA. (nih.gov)
  • BRCA1 and BRCA2 genes create tumor-suppressing proteins and help repair damaged DNA. (self.com)
  • Li and colleagues analyzed data from approximately 5,000 patients diagnosed with breast cancer between 2001 and 2008 in Sweden and evaluated their tumor characteristics and survival outcomes based on whether they had rare protein-truncating variants in 31 cancer predisposition genes. (genomeweb.com)
  • Their evaluation showed that carriers of rare protein-truncating variants in any of the 31 cancer risk genes were more likely to develop high-grade tumors and not live as long as women who didn't carry such variants. (genomeweb.com)
  • They found that women with rare protein-truncating variants in non-BRCA1/2 genes had 1.76 times the risk of death compared to non-carriers. (genomeweb.com)
  • The set of DEs under investigation requires physicians and biologists to compare was extracted from eleven biomedical data their clinical and biological data to already exist- sources covering genes, proteins and diseases, ing data sets and to reference knowledge bases. (nih.gov)
  • However, not everyone who inherits a mutation in the BRCA1 gene will develop cancer. (medlineplus.gov)
  • Men who carry a BRCA1 gene mutation may also be at increased risk for other cancers, including breast and pancreatic cancer. (medlineplus.gov)
  • Phenotypic features of BLBCs, such as clinical presentation and early age of onset, resemble those of breast tumors from BRCA1-mutation carriers. (vumc.nl)
  • The reduced ability to repair DNA makes cancer cells with a BRCA1 or BRCA2 mutation sensitive to treatment with DNA-damaging drugs. (nih.gov)
  • In part A, cohorts of three to six patients, enriched for BRCA1 and BRCA2 mutation carriers, received niraparib daily at ten escalating doses from 30 mg to 400 mg in a 21-day cycle to establish the maximum tolerated dose. (nih.gov)
  • Women who inherit a mutation in the gene that encodes BRCA1 have up to an 80 percent lifetime risk of developing breast cancer, several times the risk of those who don't have it, according to the National Cancer Institute. (ecancer.org)
  • Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers. (bvsalud.org)
  • This is a Phase II study to determine the rate of stabilization or disease improvement from investigational decitabine/cedazuridine (INQOVI) treatment in subjects with BRCA1-Associated Protein-1 (BAP1) Cancer Predisposition Syndrome (CPDS) and subclinical, early-stage mesothelioma. (nih.gov)
  • 7. BRCA1-associated protein (BAP1)-inactivated melanocytic tumors. (nih.gov)
  • The genomic instability of BRCA1-mutated tumors can be effectively targeted with DNA-damaging agents and poly-(ADP-ribose) polymerase 1 (PARP1) inhibitors. (vumc.nl)
  • BLBCs share molecular features that were previously found to be specific for BRCA1-mutated breast tumors. (vumc.nl)
  • A deeper knowledge of the processes that drive drug resistance in BRCA1/2 -mutant tumors will lead to novel therapeutic approaches that target tumor-specific vulnerabilities," Nussenzweig adds. (nih.gov)
  • However, doubly deficient BRCA1−/−53BP1−/− cells or tumors become resistant to PARPis. (tu-darmstadt.de)
  • This review will focus on talazoparib, a PARP inhibitor approved by the US FDA for the treatment of metastatic g BRCA1/2 + breast cancers in October 2018. (nih.gov)
  • An analysis of clinical information showed that expression of PTIP correlated with how patients with BRCA1- and BRCA2- mutant cancers responded to treatment with DNA-damaging agents. (nih.gov)
  • Although BRCA1/2-associated cancers are often associated with worse tumor phenotypes, it has been documented that patients with breast cancer who are BRCA1 /2 carriers do not necessarily exhibit worse survival patterns than BRCA1/2 non-carriers," the authors wrote. (genomeweb.com)
  • In the nucleus of many types of normal cells, the BRCA1 protein interacts with several other proteins to mend breaks in DNA. (medlineplus.gov)
  • To carry out these functions, the BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell division. (medlineplus.gov)
  • The second BRCT domain of BRCA1 proteins interacts with p53 and stimulates transcription from the p21WAF1/CIP1 promoter. (embl.de)
  • In the nucleus of many types of normal cells, the BRCA1 protein interacts with RAD51 during repair of DNA double-strand breaks. (indiabix.com)
  • Previous studies emphasized the importance of the BRCT domain, which shows homology with p53 binding protein (53BP1), in transcriptional activation, growth inhibition and tumor suppression. (embl.de)
  • VeraChem's protein-ligand binding free energy software VM2 used in the study "Characterization of Promiscuous Binding of Phosphor Ligands to Breast-Cancer-Gene 1 (BRCA1) C-Terminal (BRCT): Molecular Dynamics, Free Energy, Entropy and Inhibitor Design", PLoS Comput Biol 12 (8): e1005057. (verachem.com)
  • The breast cancer susceptibility gene contains at its C terminus two copies of a conserved domain that was named BRCT for BRCA1 C terminus. (embl.de)
  • The BRCT domain is not limited to the C-terminal of protein sequences and can be found in multiple copies or in a single copy as in RAP1 and TdT. (embl.de)
  • Some data [ ( PUBMED:9799248 ) ] indicate that the BRCT domain functions as a protein-protein interaction module. (embl.de)
  • There are 72534 BRCT domains in 52588 proteins in SMART's nrdb database. (embl.de)
  • Taxonomic distribution of proteins containing BRCT domain. (embl.de)
  • The complete taxonomic breakdown of all proteins with BRCT domain is also avaliable . (embl.de)
  • Click on the protein counts, or double click on taxonomic names to display all proteins containing BRCT domain in the selected taxonomic class. (embl.de)
  • In addition, the C-terminal second BRCA1 (BRCT) domain is sufficient for p53 mediated transactivation of the p21 promoter. (embl.de)
  • The BRCA1 gene provides instructions for making a protein that acts as a tumor suppressor. (medlineplus.gov)
  • LMAN2, a protein-coding gene, is responsible for encoding a type I transmembrane lectin that shuttles between the plasma membrane, Golgi apparatus, and endoplasmic reticulum. (hindawi.com)
  • We used Gene Expression Profiling Interactive Analysis (GEPIA), Breast Cancer Gene-Expression Miner v4.7 (bc-GenExMiner v4.7), UALCAN, The Human Protein Atlas (HPA), Gene Expression-Based Outcome for Breast Cancer Online (GOBO), Cancer Cell Line Encyclopedia (CCLE), SpatialDB, and Tumor Immune Estimation Resource (TIMER) databases to evaluate the LMAN2 expression. (hindawi.com)
  • The phosphoprotein encoded by the BRCA1 gene ( GENE, BRCA1 ). (nih.gov)
  • The purpose of this Funding Opportunity Announcement (FOA) is to support multi-disciplinary projects aimed at the development of new targeted and effective therapies through systematic use and leveraging of recently identified genomic abnormalities and attendant changes in gene and/or protein expression profiles in human oral cancer samples. (nih.gov)
  • Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way. (medlineplus.gov)
  • Several studies link BRCA1 to transcriptional regulation, DNA repair, apoptosis and growth/tumor suppression. (embl.de)
  • PARP inhibitors are small molecule mimetics of nicotinamide which bind to PARP's catalytic domain to inhibit poly-ADP-ribosylation (PARylation) of target proteins, including PARP-1 itself. (nih.gov)
  • SELDI-TOF protein profiles from this small pilot study distinguished between women with BRCA-1 Ca, Carriers, and women with SBC. (nih.gov)
  • In agreement, a slightly stronger effect for worse survival was observed in carriers of non- BRCA1/2 protein-truncating variants after the removal of BRCA1/2 carriers. (genomeweb.com)
  • BRCA1 splice variants BRCA1a (p110) and BRCA1b (p100) associates with CBP/p300 co-activators. (embl.de)
  • Moreover, it appears likely that, in addition to BRCA1 associated protein 1, other yet unknown genetic variants may also influence the individual risk for development of MM, especially after exposure to asbestos and related mineral fibers. (cdc.gov)
  • Also, our data suggest that a small subset of genomic regions may be used to identify BRCA1-like BLBCs. (vumc.nl)
  • Thus, lack of BRCA1 and BRCA2 increases genomic instability and enhances sensitivity to DNA-damaging drugs. (nih.gov)
  • LMAN2 regulates the transport of exosomal cargo proteins through the Golgi complex [ 11 ]. (hindawi.com)
  • The BRCA1 and BRCA2 proteins are involved in DNA repair by homologous recombination. (nih.gov)
  • In addition to these general terms, there are many specific protein terms as either MeSH descriptors or SCR terms. (nih.gov)
  • The policy for flagging proteins that are not in MeSH is described in Technical Memorandum 507 ( NLM staff access only ). (nih.gov)
  • These results demonstrate for the first time the presence of a second p53 interaction domain in BRCA1 proteins and suggests that BRCA1a and BRCA1b proteins, like BRCA1, function as p53 co-activators. (embl.de)
  • Selecting all the terms (extracted from ers about proteins: Swiss-Prot7, PDB8, HPRD9, the different HTML pages) common to at Interpro10 or diseases: OMIM11. (nih.gov)
  • By helping to repair DNA, the BRCA1 protein plays a critical role in maintaining the stability of a cell's genetic information. (medlineplus.gov)
  • Surfaced-enhanced laser desorption/ionization time-of-flight (SELDI-TOF) differentiation of serum protein profiles of BRCA-1 and sporadic breast cancer. (nih.gov)
  • These effects are counteracted by the AhR-antagonist alpha-naphthoflavone (ANF), and in breast cancer cells expressing mutant p53 or the E6 human papilloma virus protein. (nih.gov)
  • In the cohort of 5,099 breast cancer patients, 597 women carried a rare protein-truncating variant. (genomeweb.com)
  • In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (nih.gov)
  • 246-646 HOST SPECIES: Rabbit SPECIES REACTIVITY: Human, Rat IMMUNOGEN: Recombinant fusion protein containing a sequence corresponding to amino acids 1-195 of human. (gen9bio.com)
  • In-silico analyses using PolyPhen-2 and SIFT predict the amino acid substitutions to be potentially deleterious to the protein function. (biomedcentral.com)
  • By influencing DNA damage repair, these three proteins play a role in maintaining the stability of the human genome. (indiabix.com)
  • BRCA1 and BRCA2 are human proteins that help to repair damaged DNA. (nih.gov)
  • A team of researchers led by Drs. Andre Nussenzweig and Shyam Sharan at NIH's National Cancer Institute (NCI) examined the roles of BRCA1 and BRCA2 in DNA replication, the process by which the cell copies DNA strands in preparation for cell division. (nih.gov)
  • The researchers identified several proteins that actively promote destabilization of replication forks. (nih.gov)
  • VeraChem's state of the art computational chemistry software is capable of protein-ligand and host-guest binding affinity prediction, fast calculation of accurate partial atomic charges for drug-like compounds, computation of energies and forces with empirical force fields, automatic generation of alternate resonance forms of drug-like compounds, conformational search with the powerful Tork distort-minimize algorithm, and automatic detection of topological and 3D molecular symmetries. (verachem.com)
  • Certain proteins are recruited to stalled forks to stabilize, repair, and restart the replication fork. (nih.gov)
  • Their absence protected the DNA at replication forks and reversed the drug sensitivity of BRCA1- and BRCA2- mutant cells. (nih.gov)
  • Loss of Artemis restores PARPi resistance in BRCA1-deficient cells. (tu-darmstadt.de)
  • The sera were spotted onto protein chips for SELDI-TOF analysis and analyzed with classification algorithm software. (nih.gov)
  • Until recently, scientists thought methylation enzymes acted only on DNA molecules or on histones, proteins that bundle DNA into spool-like packages. (ecancer.org)
  • Our findings demonstrate an additional function for this domain in protein-protein interaction and co-activation of p53. (embl.de)
  • It contains an N-terminal RING FINGER DOMAIN and is a PROTEIN PHOSPHATASE 1 regulatory subunit. (nih.gov)
  • Also, the methylation appears in exactly the same spot where another protein called BRCA1 adds a different kind of regulatory marking, and may block BRCA1's restrictive effects on the oestrogen receptor. (ecancer.org)
  • 13-ORB312690 Product Name: PCV2 Cap protein antibody Catalog Number: orb312690 Species/Host: Rabbit. (gen9bio.com)
  • These results suggest that one of the mechanisms by which BRCA1 proteins function is through recruitment of CBP/p300 associated HAT/FAT activity for acetylation of p53 to specific promoters resulting in transcriptional activation. (embl.de)
  • We also found that BRCA1a and BRCA1b proteins interact with p53 in vitro and in vivo. (embl.de)
  • Surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS) profiling can differentiate protein signatures of cancer and normal subjects. (nih.gov)
  • LMAN2 is involved in biological processes such as protein metabolism, Golgi transport dynamics, and subsequent modifications. (hindawi.com)
  • Methylation may be just as common as other protein modifications, and even more complicated. (ecancer.org)
  • Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. (medlineplus.gov)