Mutations in proteins fanconi anemia. Medical search. Frequent questions

Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. (nih.gov)
Researchers have shown that variants (mutations) in one of at least 15 different genes can cause Fanconi anemia. (dana-farber.org)
Biallelic PALB2 variants cause Fanconi anemia, a recessive inherited chromosomal instability syndrome, while rare monoallelic variants of PALB2 have been proposed to confer two-fold increased predisposition to breast cancer. (um.edu.my)

Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
Whole-exome sequencing (WES) verified RAD51C, BRIP1, PALB2 , and FANCG heterozygous germline mutations of the FA pathway, which were further confirmed in buccal swab samples by Sanger sequencing. (frontiersin.org)
To date, researchers have already identified germline mutations in 22 specific genes associated with the FA pathway, each accounting for an individual FA complementation group ( 2 ). (frontiersin.org)
Comprehensive genetic testing showed that many molecular variations (including FA gene germline mutations, RAS and epigenetic pathway somatic mutations, and NUP98-HOXC11 fusion) were highly linked to her serious and complex medical history ( Figures 1A, B ). (frontiersin.org)
(B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and alter hematopoiesis, but also revealed features of Diamond-Blackfan anemia (DBA) or Fanconi anemia (FA), two BMFSs, respectively, caused by defects in ribosomal function or DNA repair. (bvsalud.org)
Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. (hindawi.com)
To investigate the role of PALB2 germline mutations in predisposition to breast cancer in the Malaysian breast cancer patient population and to determine its clinical significance, a total of 1220 breast cancer patients treated at University Malaya Medical Centre (UMMC) from January 2003 to December 2010 were recruited into the Malaysia Breast Cancer Genetic Study (MyBrCa). (um.edu.my)
These 122 BRCA-negative individuals were then tested for PALB2 germline mutations. (um.edu.my)
Germline pathogenic PALB2 mutations were found in 1.6% (2 out of 122) of high risk BRCA-negative individuals. (um.edu.my)

Fanconi Anemia complementation group C protein in metabolic disorders. (nih.gov)
Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis. (nih.gov)

D'Andrea's focus is the molecular pathogenesis of the human chromosomal instability syndromes: Fanconi anemia (FA), ataxia-telangiectasia, and Bloom syndrome. (dana-farber.org)
The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (bvsalud.org)

The Fanconi anemia (FA) pathway (also known as the FA-BRCA pathway) is involved in the repair of DNA lesions by homologous recombination, which plays a vital role in the maintenance of genomic stability ( 1 ). (frontiersin.org)
The protein products of these genes are thought to act cooperatively in a pathway, the FA-BRCA pathway, to repair DNA damage and prevent cellular transformation. (uri.edu)
A central step in the regulation of the activation of the FA-BRCA pathway is the mono-ubiquitination of the FANCD2 (and FANCI) proteins. (uri.edu)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. (lu.se)
Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. (lu.se)
Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. (lu.se)
However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. (lu.se)
Conclusions: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers. (lu.se)
It is caused by inactivating predominantly biallelic mutations involving >20 genes encoding proteins with roles in the FA/BRCA DNA repair pathway. (bvsalud.org)
Of these, 33 individuals were screened positive for BRCA deleterious mutations, while 122 individuals lacked aberrations in both BRCA1 and BRCA2 genes. (um.edu.my)
Kruskal Wallis and Mann-Whitney analyses showed that the presence of PALB2 mutations was not significantly associated with higher incidence of breast or BRCA-related cancers. (um.edu.my)
The BRCA mutation (BRCAm) in males has been reported to confer a higher risk for the development of various tumors. (biomedcentral.com)
Compared with those in females, BRCA mutations in males were associated with decreased overall survival (OS) and progression-free survival (PFS). (biomedcentral.com)
Because BRCA mutations are observed in fewer than 10% of cancer patients (cBioPortal: 6.7%) 11 , 12 , 13 the identification of additional genes that share synthetic lethal sensitivity relationships with mutated oncogenes or tumor suppressors would greatly enhance the implementation of tumor cell-specific synthetic lethal sensitivity to improve an anticancer therapeutic response. (nature.com)

This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
Fanconi anemia (FA) is a rare genetic disease characterized by developmental defects, progressive bone marrow failure, and increased susceptibility to cancer. (uri.edu)
Breast Cancer Type 2 susceptibility protein (BRCA2) is a tumor-suppressor protein reported to be involved in double-strand break repair, homologous recombination and S-phase checkpoint activation. (thermofisher.com)
There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)

Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). (lu.se)
The PALB2 (Partner and Localizer of BRCA2) protein stabilizes and localizes the BRCA2 protein at nuclear foci in response to DNA damage. (um.edu.my)
Further screening for nine PALB2 mutations/variants was conducted in 874 Malaysian and 532 Singaporean breast cancer patients, and in 1342 healthy Malaysian and 541 healthy Singaporean women. (um.edu.my)
Statistical analyses were performed to compare the characteristics of PALB2 mutation carrier relative to BRCA1, BRCA2 and non-carrier. (um.edu.my)
Genotyping of Asian recurrent PALB2 mutations detected an additional PALB2 carrier (STOP353) among the unselected breast cancer patients. (um.edu.my)

In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. (medscape.com)
Guido Fanconi discovered Fanconi anemia in 1927. (facty.com)

Mutation in human genes involved in homologous recombination results in genome instability and diseases including a large fraction of inherited breast and ovarian cancers, Nijmegen breakage syndrome, ataxia telangiectasia, Bloom syndrome, Fanconi anemia, Rothmund-Thomson syndrome and others. (bcm.edu)
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. (lookformedical.com)
Defects in the repair of DNA inter-strand crosslinks (ICLs) are associated with the genome instability syndrome Fanconi anemia (FA). (dundee.ac.uk)
Sickle cell disease is just one of many blood disorders caused by a single mutation in the genome," Corn said. (xinhuanet.com)

Targeted next-generation sequencing (NGS) of a panel of 80 genes was performed on her initial bone marrow aspirate sample and identified PTPN11, NRAS , and DNMT3A somatic mutations. (frontiersin.org)
She developed ovarian cancer, and then the altered FA pathway plus exposure to cytotoxic drugs promoted the emergence of acquired somatic mutations and the NUP98-HOXC11 fusion, all of which contributed to the development of secondary t-CMML. (frontiersin.org)
Relapsed acute myeloid leukemia (AML) is associated with the acquisition of additional somatic mutations which are thought to drive phenotypic adaptability, clonal selection and evolution of leukemic clones du. (biomedcentral.com)

Regulation of the activation of the Fanconi anemia pathway by the p21 cyclin-dependent kinase inhibitor. (uri.edu)
The Fanconi anemia pathway is required for the DNA replication stress response and the regulation of common fragile site stability. (uri.edu)
To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. (lu.se)
Fanconi anemia (FA) is a complex genetic disease associated with a defective DNA repair pathway known as the FA pathway. (ibecbarcelona.eu)
In contrast to many other FA proteins, BRCA2 participates downstream in this pathway and has a critical role in homology-directed recombination (HDR). (ibecbarcelona.eu)

Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and a higher than normal risk of cancer. (dana-farber.org)

We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). (nih.gov)

Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)

As tumor suppressor genes, loss-of-function mutations in BRCA1/2 may lead to the accumulation of DNA double-strand breaks and result in genomic instability and tumor formation [ 1 , 2 ]. (biomedcentral.com)

Throughout the lifetime of patients with an FA gene mutation, DNA damage increasing accumulates, which would lead to a complex clinically and genetically heterogeneous disorder characterized by developmental abnormalities, bone marrow failure (BMF), immune deficiency, and a high risk of developing various cancers (e.g. (frontiersin.org)
BACKGROUND/AIM: Patients with radiation sensitive Fanconi anemia (FA) are presenting with cancers of the oral cavity, oropharynx, and other anatomic locations. (bvsalud.org)
Hereditary Breast/Ovarian Cancer - Mutations in BRCA1 or BRCA2 genes predispose to breast cancer and ovarian cancer as well as prostate cancer (BRCA1) and other cancers (BRCA2). (assistedfertility.com)

Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs). (medscape.com)
Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately 2000 cases reported in the medical literature. (medscape.com)
WT1 -related Wilms tumor syndromes are caused by alterations, or "mutations," at a specific area in an individual's genetic information. (chop.edu)

Subsequent cases were clinically diagnosed because of the combination of aplastic anemia and various characteristic physical anomalies (see Physical Examination). (medscape.com)
Hematopoietic stem cell transplantation (bone marrow, cord blood, or peripheral blood stem cells) may cure aplastic anemia and prevent myelodysplastic syndrome or leukemia. (medscape.com)
This led to the identification of patients with Fanconi anemia and aplastic anemia without birth defects and the diagnosis of Fanconi anemia in patients without aplastic anemia but with abnormal physical findings. (medscape.com)
Fanconi anemia accounts for approximately 25% of the cases of aplastic anemia seen at large referral centers. (medscape.com)
Liver tumors occurred in more than 45 patients, 43 of which were associated with androgen use, often in the context of aplastic anemia or other tumors, and were not usually malignant (although two thirds were histologically hepatomas, and the rest were adenomas). (medscape.com)
Aplastic Anemia (Savage, 2020) - Is Anemia Genetic? (nebula.org)
Healthcare providers may recommend allogeneic stem cell transplantation for severe forms of aplastic anemia. (clevelandclinic.org)
This procedure usually cures aplastic anemia. (clevelandclinic.org)
Also called inherited infantile aplastic anemia, the disorder causes enlarged red blood cells, but low platelet and white blood cell, counts. (facty.com)

Mutations in this gene predispose humans to breast and ovarian cancer. (bvsalud.org)

The genetic form of Fanconi syndrome is either X-linked, autosomal recessive, or autosomal dominant. (facty.com)

This is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. (clevelandclinic.org)

Our research goal is to understand the molecular mechanisms of homologous recombination and the role different proteins play during recombination. (bcm.edu)

Children, teenagers, and young adults with Fanconi anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and Myelodysplastic Syndrome Program , recognized as one of the nation's best pediatric treatment and research programs for bone marrow failure and related conditions. (dana-farber.org)
Fanconi anemia (FA) is a clinically variable and genetically heterogeneous cancer-predisposing disorder representing the most common bone marrow failure syndrome. (bvsalud.org)
The risk of myelodysplastic syndrome in Fanconi anemia is about 5000-fold. (medscape.com)
The researchers also noted that the approach might also able used to develop treatments for other blood diseases, severe combined immunodeficiency, chronic granulomatous disease, rare disorders like Wiskott-Aldrich syndrome and Fanconi anemia, and even HIV infection. (xinhuanet.com)
The differential diagnosis of Bloom syndrome includes Fanconi anemia, Silver-Russell syndrome, Rothmund-Thomson syndrome, ataxia-telangiectasia, and Nijmegen breakage syndrome. (orpha.net)
In people with Fanconi syndrome or FS, a defect in the proximal tubules causes poor reabsorption of nutrients and results in lifelong health issues. (facty.com)
The type of Fanconi syndrome with which a person is diagnosed depends on which nutrients their body cannot reabsorb. (facty.com)
Cystinosis is one of the most common causes of Fanconi syndrome in children and affects about one in every 200,000 births. (facty.com)
Heavy metal toxicity, such as lead poisoning, which is more prevalent in children than adults, causes Fanconi syndrome due to the immune system factors that impair tubule function. (facty.com)
Despite having similar names, Fanconi anemia and Fanconi syndrome are entirely different conditions. (facty.com)
Both rickets and osteomalacia are related to Fanconi syndrome. (facty.com)
Examinations of children and adults with Fanconi syndrome showed evidence of rickets and osteomalacia, respectively. (facty.com)
Due to the inherent renal abnormalities, half of all cases develop Fanconi syndrome. (facty.com)

Approximately 25% of known patients with Fanconi anemia do not have major birth defects. (medscape.com)
Birth defects (present in up to 75% of Fanconi anemia patients, depending on the level of scrutiny) associated with Fanconi anemia are demonstrated in the images below. (medscape.com)
Stem cell (bone marrow) transplant is currently the only cure for the blood defects of Fanconi anemia. (dana-farber.org)
Here we report that cells with mutations in RFWD3, an E3 ubiquitin ligase that interacts with and ubiquitylates replication protein A (RPA), show profound defects in ICL repair. (dundee.ac.uk)
A pathologist, Smogorzewska happened to know these shapes: They looked like positive results from a clinical test for Fanconi anemia, a heritable disease that often causes bone-marrow failure, developmental defects, and cancer. (rockefeller.edu)
Deletions in the spectrin-like region of ANC-1 led to significant defects, but only recapitulated the null phenotype in combination with mutations in the trans-membrane span. (ucdavis.edu)

An example of this class of genes is a mutation in the CHEK2 gene in breast cancer. (hindawi.com)

Patients with FA gene mutation are hypersensitive to DNA damage and unable to successfully repair damaged DNA when exposed to DNA-crosslinking agents, cytotoxic chemotherapeutics, and ionizing radiation ( 3 , 4 ). (frontiersin.org)
Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments. (dana-farber.org)
As described in the U.S. journal Science Translational Medicine, the researchers used CRISPR-Cas9 to correct the disease-causing mutation in stem cells from the blood of affected patients. (xinhuanet.com)
As Smogorzewska soon found, some patients with previously unexplained forms of the disease turned out to have mutations in FANCI-in other words, their disease likely stemmed from the very type of defect she had engineered into her lab cells. (rockefeller.edu)
Frameshift mutations in BRCA2 at N1784 (N1784Kfs*3, N1784Tfs*3) were frequently observed in both male and female patients. (biomedcentral.com)
However, in both healthy individuals and patients with malignancy, far fewer men than women are currently tested for mutations in these genes. (biomedcentral.com)
Of course, in patients with associated acid-peptic disease, occult gastrointestinal bleeding may lead to a presentation with hypochromic, microcytic anemia, masking the presence of PV. (basicmedicalkey.com)
In approximately 15% of patients, however, myelofibrosis is accompanied by significant extramedullary hematopoiesis, hepatosplenomegaly, and transfusion-dependent anemia, which are manifestations of stem cell failure. (basicmedicalkey.com)

This is an important advance because for the first time we show a level of correction in stem cells that should be sufficient for a clinical benefit in persons with sickle cell anemia," said co-author Mark Walters, director of Benioff Oakland's Blood and Marrow Transplantation Program at the University of California (UC), San Francisco. (xinhuanet.com)

Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)

Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy. (orpha.net)

WASHINGTON, Oct. 12 (Xinhua) -- Scientists said Wednesday they have used a popular gene-editing tool to successfully fix a genetic mutation that causes sickle cell anemia, taking a key step toward a cure for the blood disease. (xinhuanet.com)
Sickle cell anemia is a blood disorder caused by a single mutation in both copies of a gene coding for beta-globin, a protein that forms part of the oxygen-carrying molecule hemoglobin. (xinhuanet.com)
Another common type of anemia is sickle cell anemia, a specific form of a larger category of sickle cell disease. (nebula.org)
Sickle cell anemia illustration. (nebula.org)
People with a genetic mutation in this gene have sickle cell anemia. (nebula.org)

Fanconi anemia (FA) is really a genetic disease seen as a bone marrow failing and increased tumor risk. (health-ground.com)
Fanconi anemia occurs when the bone marrow does not produce enough new blood cells. (nebula.org)
While children with Fanconi anemia may have malformed kidneys, among other symptoms, it is mostly a disease of the bone marrow, not the kidneys. (facty.com)

Carcinomas of the lung, bladder, stomach, and cutaneous melanoma were the frequent tumors demonstrating BRCAm in males, of which the majority were stage II or III diseases with a higher frequency of BRCA2 mutations. (biomedcentral.com)
Mutations in NF1 cause the common genetic disorder neurofibromatosis type 1 (NF1) which is associated with a predisposition to neural crest derived tumors and juvenile myelomonocytic leukemia (JMML). (iu.edu)
Because most tumors are deficient in one or more aspects of the function of the p53 tumor suppressor, either as a consequence of mutations within p53, or impairment of upstream and downstream modulators of p53 activity 19 , targeting MK2 has the potential to selectively enhance tumor cell killing without increasing the genotoxic effects of chemotherapy on normal p53-wild type tissues. (nature.com)

COX4I1 encodes a protein that is located in the inner mitochondrial membrane and is an isoform of the nuclear-encoded subunit IV of cytochrome c oxidase (complex IV), the terminal oxidase in mitochondrial electron transport. (wikipedia.org)
This gene encodes a protein that helps regulate iron levels in the body. (nebula.org)

When a person carries an autosomal dominant gene mutation, each of his/her offspring has a 50% chance for inheriting the gene mutation. (assistedfertility.com)
Females who have an X-linked dominant gene mutation have a 50% chance to have an affected child. (assistedfertility.com)
Females who carry an X-linked recessive gene mutation have a 50% chance to pass it on to each of her children. (assistedfertility.com)
Hereditary non-polyposis colorectal cancer - Hereditary non-polyposis colon cancer (HNPCC) is caused by an autosomal dominant inherited gene mutation. (assistedfertility.com)

The proteins normally produced by these genes form a kind of cellular "machine" that helps detect and repair damaged DNA in blood stem cells and other cells in the body (a normal, daily occurrence). (dana-farber.org)

Anemia is either acquired or congenital. (nebula.org)
A common example of congenital anemias is genetic disorders of hemoglobin formation (sickle cell). (nebula.org)
Congenital pernicious anemia is a rare form of genetic anemia in which the body is unable to make intrinsic factor, a protein needed for vitamin B12 production. (nebula.org)

A recombinant fusion protein containing a sequence corresponding to amino acids 2800-3050 of human BRCA2. (thermofisher.com)

The homozygous mutation K101N and a de novo 16q24.1 interstitial duplication have been found to cause defective COX4I1. (wikipedia.org)
In our current studies, we have observed an extremely low reprogramming efficiency in cells with a hypomorphic mutation in Brca2 (Brca2Î"27/Î"27), that was associated with increased apoptosis and defective generation of nuclear RAD51 foci during the reprogramming process. (ibecbarcelona.eu)

X-linked dominant - Disorders caused by mutations in genes located on the X chromosome. (assistedfertility.com)

The decision to rescreen a patient should be undertaken only with the guidance of a genetics professional who can best assess the incremental benefit of repeat testing for additional mutations. (acog.org)

BRCA1 fusions with NF1, FAM134C, BECN1, or LSM12 and recurrent BRCA2 mutations at P606L/S, E832K/G, and T3033Lfs*29 were detected. (biomedcentral.com)

A total of 127 BRCA1 and 311 BRCA2 mutations were identified, of which 21.8 and 28.6% were deleterious, respectively. (biomedcentral.com)

Although relatively little is known about the function of COX4I1, mutations in this gene have been associated with mitochondrial complex IV diseases with severe phenotypes. (wikipedia.org)
Causes of acquired anemia can be blood loss, increased blood breakdown, diseases of the hematopoietic system, deficiency diseases, kidney diseases , hormonal disorders, pregnancy, or "consumptive diseases" such as tumor diseases or chronic inflammatory diseases. (nebula.org)

The COX4I1 gene produces a 9.3 kDa protein composed of 83 amino acids. (wikipedia.org)

Dipanjan Chowdhury, PhD , is studying two aspects of the DNA damage response: the dephosphorylation of DNA repair proteins via phosphatases, and the decreased expression of repair factors via microRNAs (miRNAs). (dana-farber.org)

See 40 reference sequence protein isoforms for the FANCC gene. (nih.gov)

Mutations in COX4I1 have been associated with COX deficiency and Fanconi anemia. (wikipedia.org)
Among these, COX deficiency and Fanconi anemia have been suspected and linked to mutations in the COX4I1 gene. (wikipedia.org)
Experts have associated mutations in the TMPRSS6 gene with a type of the condition called refractory iron deficiency anemia (IRIDA). (nebula.org)

The advent of molecular diagnostics has further improved the specificity of Fanconi anemia diagnosis. (medscape.com)
Molecular diagnosis of FA is challenging due to the wide spectrum of the contributing gene mutations and structural rearrangements. (bvsalud.org)

Anatomy8

Organisms3

Diseases29

Chemicals and Drugs36

Analytical, Diagnostic and Therapeutic Techniques and Equipment11

Phenomena and Processes47

Information Science3

Named Groups2

Health Care1

Cause Fanconi anemia3

Germline10

Complementation group2

Chromosomal2

Brca14

Susceptibility6

PALB25

Guido Fanconi2

Genome4

Somatic mutations3

Pathway5

Inherited disease1

BRIP11

BRCA1 and BRCA21

Instability1

Cancers3

Syndromes3

Aplastic9

Predispose1

Autosomal Recessive1

Different genes1

Homologous1

Syndrome13

Defects6

CHEK21

Patients8

Clinical1

Alterations1

Disease-causing1

Sickle cell a5

Bone3

Tumors3

Encodes a protein2

Gene mutation4

Stem1

Congenital3

Recombinant fusion1

Defective2

Chromosome1

Genetics1

Recurrent1

Deleterious1

Diseases2

Amino acids1

Damage Response1

FANCC1

Deficiency3

Diagnosis2