Protein germ line mutation. Medical search. Frequent questions

To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. (nature.com)
To understand the molecular pathogenesis of MN in patients with SDS, we characterized the presence and dynamics of somatic mutations in serial, clinically annotated samples collected prospectively from patients enrolled in the North American SDS Registry and studied the functional consequences of recurrently mutated pathways. (nature.com)
These changes, which are called somatic mutations, are not inherited. (medlineplus.gov)
Somatic mutations in the TP53 gene occur in almost half of all ovarian cancers. (medlineplus.gov)
Somatic mutations in many other genes have also been found in ovarian cancer cells. (medlineplus.gov)
12 ] mapped non-synonymous somatic mutations of Breast Invasive Carcinoma and Colon Adenocarcinoma Tumor samples to their corresponding protein domains, in order to extract domains with significant mutation frequency. (biomedcentral.com)
The Caris TMB assay quantifies the number of non-synonymous, somatic mutations identified per megabase (Mb) of the genome coding area of DNA (1 megabase is 1,000,000 DNA basepairs) and reports results as Low or High. (carislifesciences.com)
A small number of male patients have been reported, mostly with postzygotic somatic mutations. (medscape.com)
We are analysing alternative splicing and its association with germline variants and somatic mutations RNA and DNA sequencing data for thousands of women with sporadic or familial breast cancer. (lu.se)
Based on the TBX5, GATA4, and HEY2, often simultaneously incidence of somatic mutations described in the within the same patient.9-13 The observation of two previously published reports, our study was adequately or more somatic sequence variants in the same powered to replicate the previous studies. (cdc.gov)
No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)

The aim of this study was to characterise individuals fulfilling the current WHO criteria for SPS for germline mutations in these polyposis-associated genes. (nih.gov)
Individuals with SPS were tested for coding mutations and large deletions in the PTEN, SMAD4, and BMPR1A genes, for the MUTYH variants in exons 7 (Y179C) and 13 (G396D), and for the duplication upstream of GREM1. (nih.gov)
We found no variants that were likely to be deleterious germline mutations in the SPS cases in the PTEN, SMAD4, and BMPR1A genes. (nih.gov)
Deletion or mutation of genes coding for Ku70 or Ku80 proteins results in a highly radiosensitive phenotype [10]. (termedia.pl)
Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
Two human genes, BRCA1 and BRCA2 ( BRCA1 / 2 ), produce proteins that block the growth of cancer, such as breast or ovarian cancer. (ahdbonline.com)
Studies conducted in cancer-cell lines with defects in DNA repair genes, including BRCA2 and BRCA1 , show that talazoparib-induced cytotoxicity may involve blocking PARP enzymatic activity and increased formation of PARP-DNA complexes. (ahdbonline.com)
Cancers occur when a buildup of mutations in critical genes-those that control cell growth and division or repair damaged DNA-allow cells to grow and divide uncontrollably to form a tumor. (medlineplus.gov)
Its most important function may be to sequester the growth stimulatory effects of b-catenin, a protein that transcriptionally activates growth-associated genes in conjunction with tissue-coding factors. (medscape.com)
Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. (genomeweb.com)
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa. (genomeweb.com)
We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect brain anatomy. (stanford.edu)
To evaluate the role of mitochondrial genes, stem cell-specific genes and DNA repair genes in cancer development, their mutation frequency was determined via further analysis. (biomedcentral.com)
This study has provided researchers with a publicly available data repository for studying both CATH and Pfam domain regions on protein-coding genes. (biomedcentral.com)
however, only 5% to 10% of breast cancers are estimated to be attributable to the inheritance of rare, highly penetrant, germ-line mutations in genes, although this proportion is higher at younger ages of diagnosis. (health.am)
Mutations in each of these genes occur in fewer than 1% of the population. (health.am)
Polymorphisms in genes that code for enzymes, receptors, or other proteins that act in metabolic pathways of potential relevance to breast cancer may influence the function of these proteins and thus create between-person differences in metabolic activity that may alter risk of breast cancer. (health.am)
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)
Our hypothesis was that maybe it's a somatic genetic disease" or due to a mutation in the genes of a single cell. (medscape.com)

A spectacular example of this approach to treatment of breast cancer is application of a poly (ADP-ribose) polymerase (PARP) inhibitor, such as olaparib, to patients with germline BRCA1 mutations [4, 5]. (termedia.pl)
2 Furthermore, a large study conducted in 2017 estimated that approximately 72% of women who inherit a BRCA2 mutation and approximately 69% of women who inherit a harmful BRCA1 mutation will have breast cancer by the age of 80 years. (ahdbonline.com)
The BRCA1 185delAG allele is a common inherited mutation located close to the protein translation start site that is thought to produce a shortened, nonfunctional peptide. (jci.org)
In this study, we investigated the mechanisms that lead to PARPi and platinum resistance in the SUM1315MO2 breast cancer cell line, which harbors a hemizygous BRCA1 185delAG mutation. (jci.org)
rather, PARPi and platinum resistance required increased expression of a really interesting gene (RING) domain-deficient BRCA1 protein (Rdd-BRCA1). (jci.org)
Initiation of translation occurred downstream of the frameshift mutation, probably at the BRCA1-Met-297 codon. (jci.org)
Furthermore, Rdd-BRCA1 protein expression was detected in recurrent carcinomas from patients who carried germline BRCA1 185delAG mutations. (jci.org)
Taken together, these results indicate that RING-deficient BRCA1 proteins are hypomorphic and capable of contributing to PARPi and platinum resistance when expressed at high levels. (jci.org)

In contrast to the ATM mutation pattern in AT, the most frequent nucleotide changes in these sporadic lymphoid malignancies were missense mutations. (bmj.com)
The presence of missense mutations in the germline of patients with B-CLL has been reported, suggesting that some patients with B-CLL may be constitutional AT heterozygotes. (bmj.com)

This gene encodes a large protein that functions as a GDP to GTP exchange factor. (cancerindex.org)
PORCN , a member of the porcupine (PORC) gene family, encodes transmembrane endoplasmic reticulum proteins that target Wnt signaling proteins. (medscape.com)
We identified, in a multigenerational family, nine members carrying a heterozygous missense mutation with evidence of pathogenicity in SFTPA1 that encodes the surfactant protein (SP)-A1. (nih.gov)
Gene ID: 5925, OMIM 614041 ) gene, which encodes a tumor suppressor protein. (molvis.org)
The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)

Here we report that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutations in EIF6 or TP53 . (nature.com)
TP53 mutations define a maladaptive pathway with enhanced leukemic potential by inactivating tumor suppressor checkpoints without correcting the ribosome defect. (nature.com)
Somatic TP53 mutations have been observed in patients with SDS who develop MDS 13 , raising the possibility that next-generation sequencing could be integrated into surveillance for somatic clones with enhanced leukemia potential. (nature.com)
However, TP53 mutations have also been identified in SDS patients without MN 14 , suggesting that additional factors must be uncovered before implementing molecular surveillance as a predictive tool in SDS. (nature.com)
Patients with gemistocytic astrocytoma with oligodendroglial differentiation, IDH1 samples from a Li-Fraumeni family with and secondary glioblastoma with RRAS mutation, and 1p/19q loss, suggesting a TP53 germline mutation and multiple deletion tended to have shorter survival that FUBP1 immunohistochemistry is nervous system tumours revealed times than those without deletion. (who.int)

A hereditary genetic defect in 15 percent of cases meant that patients were no longer able to produce the elongator complex protein 1 (ELP1) in the tumor. (dkfz.de)
These cancers are described as hereditary and are associated with inherited gene mutations. (medlineplus.gov)
The concept of mutation was coined by Hugo De Vries in 1901, whom worked with plants species of the genus Oenothera where he discovered some phenotypic hereditary characteristics that he coined as "mutations" and "mutants" to those individuals that have these phenotypic alterations. (intechopen.com)
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. (genomeweb.com)

Inactivation of the remaining normal copy of the APC gene, by deletion or mutation, completely removes the tumor suppressive function of APC, thus initiating the growth of adenomatous polyps. (medscape.com)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)

In 2018, the US Food and Drug Administration (FDA) expanded the indications for the first poly (ADP-ribose) polymerase (PARP) inhibitor, olaparib (Lynparza), to become the first PARP inhibitor approved for the treatment of women with advanced breast cancer and a deleterious or suspected deleterious germline BRCA mutation, as detected by BRAC Analysis CDx test. (ahdbonline.com)
Pfizer), an oral PARP inhibitor, for the treatment of adults with deleterious or suspected deleterious germline BRCA mutation-positive, HER2 -negative -locally advanced or metastatic breast cancer. (ahdbonline.com)
Patients should be considered for talazoparib based on the presence of a deleterious or a suspected deleterious germline BRCA mutation using the FDA-approved companion diagnostic test BRAC Analysis CDx. (ahdbonline.com)

There are only a few reports on the expression of Ku70/80 in breast cancers [17-21], but the association of this protein with germline CHEK2 mutations in breast cancer patients is unknown. (termedia.pl)
mutations in the gene for the tumor protein p53 (causing Li-Fraumeni syndrome) and in PTEN (causing Cowden disease) account for a small proportion of inherited breast cancers. (health.am)

Genome wide analysis of pathogenic SH2 domain mutations. (lu.se)

They also demonstrated a Birt-Hogg-Dubé syndrome tumor-suppressor protein, folliculin. (medscape.com)

PTPN11 Mutations in the Ras-MAPK Signaling Pathway Affect Human White Matter Microstructure. (stanford.edu)
Results of their new study suggest that these malformations are a result of KRAS -induced activation of the mitogen-activated protein kinase-extracellular signal-regulated kinase (MAPK-ERK) signaling pathway in brain endothelial cells. (medscape.com)

Activating mutations in ALK provide a therapeutic target in neuroblastoma. (nature.com)
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. (nature.com)
Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. (stanford.edu)
Activating mutations cause Noonan syndrome (NS), a developmental disorder associated with hyperactivity and cognitive weakness in attention, executive function, and memory. (stanford.edu)
In collaboration with a group at the University of Geneva (Dr S.I. Nikolaev and Dr S.E. Antonarakis) and the group of Dr J.E. Fish from University of Toronto, they performed exome DNA sequencing of the tissue samples of 26 patients and found somatic activating KRAS mutations in some of them. (medscape.com)
In total, the researchers detected somatic activating KRAS mutations in tissue samples from 45 of 72 patients and in none of the 21 paired blood samples. (medscape.com)

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (genomeweb.com)
We examined whether PTPN11 mutations affect the white matter connectivity of the developing human brain. (stanford.edu)
In mouse models of NS, PTPN11 mutations cause reduced axon myelination and white matter formation, while the effects of PTPN11 mutations on human white matter are largely unknown. (stanford.edu)
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (lu.se)
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome. (lu.se)
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. (lu.se)
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. (lu.se)
Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. (lu.se)
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. (lu.se)
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. (lu.se)
Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (lu.se)
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. (lu.se)
Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. (lu.se)

The mutation (p.Trp211Arg), which segregates with a disease phenotype characterized by either isolated IIP/IPF, or IPF associated with lung adenocarcinoma, is located in the carbohydrate recognition domain (CRD) of SP-A1 and involves a residue invariant throughout evolution, not only in SP-A1, but also in its close paralog SP-A2 and other CRD-containing proteins. (nih.gov)
Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
Modern genomics methods produce vast amounts of genetic data, but we have limited ability to interpret the effects of sequence variation on gene expression, protein function and the individual's phenotype. (lu.se)

The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. (stanford.edu)
Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)

SDS is predominantly caused by biallelic germline mutations in the SBDS gene 5 . (nature.com)
If a patient with a suspected polyposis syndrome undergoes genetic testing and does not have an APC gene mutation, MYH gene testing should be performed to assess for MAP, as 10%-20% of patients who do not have an APC gene mutation have biallelic MYH gene mutations. (medscape.com)

Its mutation/inactivation is the initial step in the development of colorectal cancer in patients with FAP. (medscape.com)

Ku70/80 forms a complex with the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) to form the full DNA-dependent protein kinase, DNA-PK [7]. (termedia.pl)
Checkpoint kinase 2 (CHEK2), a cell cycle checkpoint regulator gene, codes for a kinase protein activated in response to radiation and other agents that cause breaks in the DNA. (termedia.pl)
Fusion of a kinase gene, ALK , to a nucleolar protein gene, NPM , in non-Hodgkin's lymphoma. (nature.com)
Oncogenic mutations of ALK kinase in neuroblastoma. (nature.com)
8 , 9 The protein is a member of a novel family of large proteins, which show sequence homology to the catalytic domain of phosphatidylinositol 3 kinase, 3 and are implicated in cell cycle regulation, signal transduction, and the response to DNA damage. (bmj.com)

We also showed that a significant number of these malformations are likely caused by specific KRAS mutations. (medscape.com)
In this case, "we knew what we were looking for, so we just looked for mutations in KRAS ," said Dr Radovanovic. (medscape.com)

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. (genomeweb.com)
The mutational landscape of Hodgkin lymphoma cell lines determined by whole exome sequencing. (genomeweb.com)
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (genomeweb.com)
This study represents a method to explore protein domains with significant mutation frequencies, using whole exome sequencing data. (biomedcentral.com)
Tumor Mutational Burden (TMB) by Whole Exome Sequencing measures the total number of mutations that result in altered proteins (neo-antigens), a pan-tumor biomarker that indicates a cancer may respond more effectively to immunotherapies. (carislifesciences.com)

Clinical activity of FOLFIRI plus cetuximab according to extended gene mutation status by next generation sequencing: findings from the CAPRI-GOIM trial. (genomeweb.com)

Somatic and germline mutations may occur. (medscape.com)
Statistical analysis was performed to identify candidate domains in which mutations occur with high statistical significance. (biomedcentral.com)

To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. (nature.com)
The ALK gene is a hotspot for chromosomal translocation events that result in several fusion proteins that cause a variety of human malignancies 3 . (nature.com)

Genetic factors include, but are not limited to inherited germline mutations, changing DNA methylation rate and microRNA modifications. (biomedcentral.com)

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. (genomeweb.com)

The researchers suspect that protein metabolism defects could be a previously underestimated cause of other types of cancer. (dkfz.de)
By mapping mutations in relation to recombination hotspots, researchers revealed mutagenic effects of meiotic DNA breaks and error-prone repair mechanisms. (genomeweb.com)
Therefore, studying mutations at domain level may point researchers to more accurate assessment of the functional impact of the mutations. (biomedcentral.com)
Researchers have identified a genetic mutation in patients with an arteriovenous malformation (AVM) of the brain, a leading cause of hemorrhagic stroke in young adults and children. (medscape.com)

Scope includes mutations and abnormal protein expression. (cancerindex.org)

Proteins 2008(2): 779-92 [ PubMed abstract ]. (lu.se)

Drosophila melanogaster porcupine and its mouse homologue PORCN gene encode transmembrane bound endoplasmic reticulum proteins needed for the secretion of Wnt (Wingless and INT-1) proteins. (medscape.com)
As shown through functional studies, the p.Trp211Arg mutation impairs SP-A1 secretion. (nih.gov)

Mutation and iS aSSociated with immunohistochemistry in WHO grade II to schwannomas. (who.int)

Since Wnt signaling proteins cannot be released without the PORCN protein, and Wnt signaling is important for normal embryonic development, the defects found in this disorder are related to lack of Wnt signaling. (medscape.com)

2 Germline (inherited) mutations are not included in Tumor Mutational Burden because the immune system has a higher likelihood of recognizing these alterations as normal. (carislifesciences.com)
This is highlighted by the FDA accelerated approval of pembrolizumab (KEYTRUDA ® ) for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options. (carislifesciences.com)

However, although ER positive tumors tend to have a better prognosis in unselected breast cancer patients, germline CHEK2 mutations are associated with increased risk of the development of ER positive breast cancer with an unfavorable prognosis [24-26]. (termedia.pl)
Children born with germline mutations tend to have bilateral tumors. (molvis.org)
6 Based on this collective work and exciting KEYNOTE-158 result and drug approval, Caris has updated the TMB high/low threshold to reflect greater than or equal to 10 mutations per megabase across all solid tumors, aligning the testing results to pembrolizumab for TMB-H cases. (carislifesciences.com)
In recent studies, renal and pulmonary tumors in Birt-Hogg-Dubé syndrome appear to follow the two-hit tumorigenesis theory relating to the interaction of folliculin with the FLCN-interacting protein 1 (FNIP1) and FLCN-interacting protein 2 (FNIP2). (medscape.com)

The exact origin of the folliculin mutation remains under investigation. (medscape.com)

The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. (medlineplus.gov)
In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells. (medlineplus.gov)

The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. (medscape.com)
Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, some families with Turcot syndrome, and attenuated adenomatous polyposis coli (AAPC). (medscape.com)

However, these methods are limited in studying acute spatiotemporal functions of proteins as well as the connection between their cellular positioning and functions. (bvsalud.org)

useful for glioma diagnosis (Baumgarten additional germline mutations. (who.int)

Since protein domains are representatives of functional regions within proteins, mutations on them may disturb the protein functionality. (biomedcentral.com)
Besides, performing interactome analysis on specific proteins of each cancer type showed high levels of interconnectivity among them, which implies their functional relationship. (biomedcentral.com)

This article presents a comprehensive study to map mutations from 29 cancer types to both sequence- and structure-based domains. (biomedcentral.com)
Beside analyzing Pfam protein domains as sequence-based domains, CATH protein domains have also been studied as structure-based domains, which were not included in relevant studies to this date. (biomedcentral.com)
Therefore, the entire oligodendroglial differentiation, diffuse astrocytomas, oligoastrocytomas, coding sequence of the LATS1 gene in IDH1 Mutation, and 1P/19q loSS and oligodendrogliomas. (who.int)
Results: One non-synonymous germline sequence variant iants as well as multiple haplotypes were observed was identified in one patient. (cdc.gov)

Overall, this first report of a germline molecular defect in SFTPA1 unveils the key role of SP-A1 in the occurrence of several chronic respiratory diseases, ranging from severe respiratory insufficiency occurring early in life to the association of lung fibrosis and cancer in adult patients. (nih.gov)
Discriminating driver mutations from the ones that play no role in cancer is a severe bottleneck in elucidating molecular mechanisms underlying cancer development. (biomedcentral.com)
A powerful approach based on inducible recruitment of plus or minus end-directed molecular motors to the protein of interest enables fast and precise control of protein activity in time and in space. (bvsalud.org)

The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
I think the value of the study is to show, as a principle, that a genetic mutation in a somatic cell can cause sporadic brain AVMs. (medscape.com)

Most of these mutations change single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor suppressor function. (medlineplus.gov)

Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (genomeweb.com)
However, because most cases don't have a familial link, they were convinced that it isn't "a classical genetic disease with a mutation in the germline," he said. (medscape.com)

6 With this approval, tala-zoparib becomes the fourth PARP inhibitor available and the second that is FDA approved for the treatment of patients with germline BRCA mutation-positive advanced breast cancer and the fourth PARP inhibitor approved in the United States. (ahdbonline.com)
8 In this open-label study, 431 patients with germline BRCA mutation-positive, HER2 -negative locally advanced or metastatic breast cancer were randomized to talazoparib 1 mg once daily (N = 287) or to the physician's choice of single-agent chemotherapy with capecitabine, eribulin, gemcitabine, or vinorelbine (N = 144). (ahdbonline.com)
ALK fusion and its association with other driver gene mutations in Finnish non-small cell lung cancer patients. (genomeweb.com)
The team in Finland replicated the tests and found the same mutation in 16 of 33 patients (48%) with AVM. (medscape.com)

This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. (cancerindex.org)
The SBDS protein promotes formation of the mature, translationally active 80S ribosome by cooperating with the GTPase EFL1 to catalyze the removal of EIF6 from the 60S ribosomal subunit. (nature.com)
6] Normal APC protein promotes apoptosis in colonic cells. (medscape.com)

Germline CHEK2 mutations have been associated with estrogen receptor (ER) positive breast cancer [22, 23]. (termedia.pl)

Although biochemical functions of the human PORCN gene are not well characterized, Wnt signaling may be involved in the phenotypic expression of focal dermal hypoplasia where defective/deficient Wnt signaling could affect cell fate or result in failure of a progenitor cell line to expand. (medscape.com)

The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23). (medscape.com)
A genetic defect that occurs in 15 percent of these children plays a key role by destabilizing the production and breakdown of proteins. (dkfz.de)

We show that germline SBDS deficiency establishes a fitness constraint that drives selection of somatic clones via two distinct mechanisms with different clinical consequences. (nature.com)

GPR91 is a G protein-coupled cell surface receptor for extracellular succinate (Sucnr1). (haematologica.org)

17%) gemistocytic astrocytomas and in mutation with a sensitivity of 100% and 3 of 24 (13%) secondary glioblastomas. (who.int)

4 , 10 There is evidence to suggest that these proteins respond to DNA damage by phosphorylating one or more substrates, including p53, c-Abl, and replication protein A (RPA), to recruit proteins to regions of DNA repair and/or to activate radiation signal transduction pathways. (bmj.com)
Only some of the mutations in coding regions, and not all of them lead to cancer. (biomedcentral.com)
Regions with high numbers of mutation for each cancer type were called hotspot. (biomedcentral.com)

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