Germline inactivation genes tumor suppressor. Medical search. Frequent questions

Patients with MEN-1 have one germline mutation and one somatic mutation that lead to inactivation of menin. (medscape.com)
Mutation and imprinting of the XIST gene, a part of the X-inactivation centre, can result in skewing. (wikipedia.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)
The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. (nih.gov)
We hypothesised that inactivation of BRCA1 by promoter methylation could occur as a germline or an early somatic event that predisposes to breast cancer with the phenotype normally associated with BRCA1 germline mutation. (biomedcentral.com)
Allelic methylation is functionally equivalent to a mutation in that loss of activity of the second allele arising from a mutation, loss of heterozygosity or a second methylation event will inactivate the gene. (biomedcentral.com)
An intronic mutation may well result in a non-functional gene (like the splicing site mutation in CYP21A2 ). (tripod.com)
The other one is that mutation is any variation in the gene that causes an obvious change in phenotype whereas polymorphisms do not cause any obvious phenotypic variation. (tripod.com)
An example of this class of genes is a mutation in the CHEK2 gene in breast cancer. (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)
p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient. (uni.lu)
Such tumor profiles can subsequently be applied to exclusively tailor cancer therapies to directly target a causative mutation for a malignancy, ultimately achieving a personalized and precise approach to cancer treatment. (biomedcentral.com)
Tumorigenesis in retinoblastoma is due to inactivation of both alleles of the RB susceptibility gene RB1.6,7 RB1 is a tumor suppressor gene whose deletion or mutation causes unregulated proliferation of embryonal retinal cells. (paojournal.com)
All 27 exons contribute to the 2.7 kb open reading frame which codes for a 110 KDa nuclear phosphoprotein known as pRB.8 pRB functions as a regulator of cellular replication.9 Any mutation in exons 13-21 of the RB1 gene, which code for the functional domain of the protein, will result in reduced function of pRB. (paojournal.com)
In hereditary cases (40%), there is a germline RB1 mutation present in constitutional cells and predisposition to RB is transmitted as an autosomal dominant trait. (paojournal.com)
Clinical presentation and family history, combined with molecular genetic testing of tumor and/or peripheral blood, are used to determine if a patient has a heritable or non-heritable mutation. (paojournal.com)
The BRCA mutation (BRCAm) in males has been reported to confer a higher risk for the development of various tumors. (biomedcentral.com)
Germline HOXB13 mutation p. (biomedcentral.com)
A number of mechanisms play a large role in the initiation of neoplastic transformation of bladder or kidney cancer, including: mutation of suppressor genes, activation of proto-oncogenes, abnormal and over-expression of oncogenes through amplification and deletion of some regions of chromosomes, and methylation. (biomedcentral.com)
A mutation in the TP53 gene overexpresses the p53 protein and increases the risk of tumor progression [ 7 ]. (biomedcentral.com)
The VHL syndrome, generally caused by hereditary allele inactivation plus a tissue somatic mutation, is characterized by the occurrence of malignancies and increased expression of oncogenic genes, including VEGF, that allow tumor development and progression. (standardofcare.com)
Even within a high-risk family with a specific BRCA1/BRCA2 gene mutation exist individuals who do not get sick with carcinoma during their life. (alcid.pl)
The offspring of persons with a germ-line mutation of BRCA1/BRCA2 have a 50 % chance to inherit a defective gene. (alcid.pl)
Mutation of APC leads to increased β-catenin/Tcf-mediated transcription of growth-promoting genes including the c-MYC oncogene. (mhmedical.com)
Mutation gene sequencing has shown several gene associations that may account for its carcinogenesis, revealing a promising research direction. (biomedcentral.com)
Pancreatic cancer is the third most common cancer related to early-onset gene mutation in breast cancer (BRCA, breast cancer susceptibility genes) as well as ovarian cancer. (biomedcentral.com)
CS is associated with a germline mutation of PTEN, a gene that plays an important role in carcinogenesis. (sgo-iasgo.com)
CS is associated with a germline mutation of phosphatase and TENsin homolog deleted on chromosome 10 (PTEN). (sgo-iasgo.com)
Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. (spandidos-publications.com)
This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future. (spandidos-publications.com)

We examined seven cases from breast-ovarian cancer families with tumours that showed BRCA1 -like pathology but did not have detectable BRCA1 or BRCA2 germline mutations present. (biomedcentral.com)
Examples of these genes are BRCA1 and BRCA2 in breast and ovarian cancers. (hindawi.com)
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)
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)
Breast cancer susceptibility gene (BRCA), including BRCA1 and BRCA2, are involved in the homologous recombination repair of DNA double-strand breaks [ 1 , 2 ]. (biomedcentral.com)
The BRCA2 germline missense variant, R3052W, resides in the DNA binding domain and has been previously classified as a pathogenic allele. (frontiersin.org)
The most numerous known, and up to now, the best explored genetic substrate for the breast HC are mutations of the genes BRCA1/BRCA2 which are responsible for about 15 % of all cases. (alcid.pl)
Germline mutations in BRCA2 predispose to breast and ovarian cancer with its predominant tumour suppressor function thought to be the repair of DNA double-strand breaks. (prolekarniky.cz)
BRCA2 has also been implicated in prostate cancer etiology, but it is unclear the impact that mutations in this gene have on prostate tumourigenesis. (prolekarniky.cz)
Simultaneous deletion of Brca2 and the tumour suppressor Trp53 in prostate epithelia gave rise to focal hyperplasia and atypical cells at 6 months, leading to high-grade PIN in animals from 12 months. (prolekarniky.cz)
This study provides evidence that Brca2 can act as a tumour suppressor in the prostate, and the model we describe should prove useful in the development of new therapeutic approaches. (prolekarniky.cz)
Germline mutations in BRCA2 predispose to both breast and ovarian cancer making it a good candidate gene for prostate cancer etiology. (prolekarniky.cz)
A family history of pancreatic cancer is an essential risk factor [ 20 ], and germline BRCA2 mutations comprise the highest proportion of known reasons for inherited pancreatic cancer [ 21 ]. (biomedcentral.com)

MEN-1 is due to mutations in the tumor suppressor gene MEN1, located on chromosome 11q13. (medscape.com)
Skewed X-chromosome inactivation (skewed X-inactivation) occurs when the X-inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. (wikipedia.org)
citation needed] X-chromosome inactivation occurs in females to provide dosage compensation between the sexes. (wikipedia.org)
If females kept both X chromosomes active, they would have twice the number of active X genes than males, who only have one copy of the X chromosome. (wikipedia.org)
All progeny from these initial cells will maintain the inactivation of the same chromosome, resulting in a phenotypic mosaic pattern of cells in females although not a genotypic mosaic. (wikipedia.org)
This is of medical significance, due to the potential for the expression of disease genes present on the X chromosome that are normally not expressed due to random X-inactivation. (wikipedia.org)
If the initial pool of cells in which X-inactivation occurs is small, chance can cause skewing to occur in some individuals by causing a bigger proportion of the initial cell pool to inactivate one X chromosome. (wikipedia.org)
The X-chromosome controlling element (Xce) gene in mice has been found to influence genetically mediated skewing. (wikipedia.org)
citation needed] Skewed X-inactivation in mice is controlled by the Xce gene on the X chromosome. (wikipedia.org)
The first is that genomic differences in the Xce alleles alter the sequence of the long non-coding RNA that is an integral part of X chromosome inactivation. (wikipedia.org)
The second is that Xce acts as a binding site for dosage factors that will affect XIST gene and Tsix expression (long non-coding RNAs involved in X chromosome inactivation). (wikipedia.org)
Nowell collaborated with the late David Hungerford who, he says, "knew more about chromosomes than I did," and together they made the startling observation that individuals suffering from chronic myelogenous leukemia (CML) had an abnormally small chromosome in the tumor cells. (laskerfoundation.org)
Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)
Denys-Drash syndrome is the result of mutations in the WT1 gene on chromosome band 11p13. (medscape.com)
It is noteworthy that the HOXB13 gene is located on chromosome 17q, the loss of heterozygosity of which has been noted in cancer of the kidney, breast, ovary, colon and some haematological malignancies. (biomedcentral.com)
The disease is caused by mutations of the VHL gene on the short arm of the third chromosome (3p26-p25). (standardofcare.com)
Loss of Heterozygosity (LOH) is defined as the absence of one normal parental allele or gene (or part of the chromosome) in an organism which usually results in cancer. (geneticeducation.co.in)
The P53 gene having a location on chromosome 17 is a proven tumor suppressor gene and well-studied with loss of heterozygosity. (geneticeducation.co.in)
A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene. (elifesciences.org)
Many individuals affected by these disorders possess a shortened form of chromosome 20 that lacks a number of genes. (elifesciences.org)
This deletion is only ever seen in one of their two copies of the chromosome-suggesting that at least some of these genes are essential for survival-but the identity of the gene(s) that are associated with the increased risk of myeloid malignancies is unknown. (elifesciences.org)
have uncovered a key tumor suppressor among those genes frequently lost on chromosome 20. (elifesciences.org)
Germline mutations in the tumor suppressor adenomatous polyposis coli gene (APC) on chromosome 5q22.2 are responsible for the most cases of FAP. (spandidos-publications.com)

Data suggest that the gene for MEN-1, called MENIN, is also involved in the pathogenesis of at least one third of sporadic neuroendocrine tumors (NETs), including gastrinomas. (medscape.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)
Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors. (nih.gov)
These VHL alterations lead to a predisposition to a somatic second hit, causing of a variety of tumors and fluid filled cysts, sporadic tumors, such as cerebellar hemangioblastoma, pheochromocytoma, clear cell renal cell carcinoma, familial erythrocytosis type two, that result in increased expression of HIF target genes. (standardofcare.com)
In addition to causing FAP through germ-line transmission, mutations of the APC gene occur somatically in more than 80 percent of sporadic colorectal tumors, whether benign or malignant. (mhmedical.com)

Chapter 32 Gastrointestinal Cancers DIAGNOSIS TREATMENT DIAGNOSITC IMAGING MEDICATIONS CT scan, MRI, labeled somatostatin receptor-based diagnostic imaging ▪ Localization, TNM staging ▪ Presence of hepatic lesions SURGERY Endoscopy with biopsy ▪ Tumor visualization ▪ Histopathological analysis, grading ▪ Somatostatin analogues suppress tumor proliferation, decrease symptoms ▪ Surgical removal of tumor LAB RESULTS ▪ 5-hydroxyindoleacetic acid, chromogranin Figure 32.2 Gross pathology of carcinoid tumor of the terminal ileum. (osmosis.org)
It is less appreciated that medically important tumor-associated antigens, particularly the Cancer Testis or Cancer/Germ-line family of antigens (CG antigens), which are being actively tested as cancer vaccine targets, are epigenetically activated in many human cancers. (nebraska.edu)
Recent work has begun to dissect the specific epigenetic mechanisms controlling differential expression of CG antigen genes in human cancers. (nebraska.edu)
However, the majority of breast cancers that exhibit a BRCA1 -like phenotype do not harbour detectable germline mutations in BRCA1 . (biomedcentral.com)
Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. (hindawi.com)
Genome wide association studies, fluorescence in situ hybridization, comparative genomic hybridization, and candidate gene studies have enumerated genetic contributors to cancers in women. (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)
About 90% of kidney cancers in children are Wilms tumors. (healthyskinworld.com)
It focuses on how precision oncology has shaped advances in the impact of non-coding RNAs in epigenetics and cancer, immunotherapy and tumor biology, and the clinical significance of various therapies in a range of cancers. (biomedcentral.com)
1986. "DNA methylation patterns of the calcitonin gene in human lung cancers and lymphomas. (esmed.org)
Although hundreds of genes are known to be mutated in cancers our understanding of mutational events in cancer cells remains incomplete ( Futreal PA et al, 2004 ). (intechopen.com)
Colorectal tumors progress through a series of clinical and histopathologic stages ranging from single crypt lesions (aberrant crypt foci) through small benign tumors (adenomatous polyps) to malignant cancers (carcinomas). (mhmedical.com)
Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. (medlineplus.gov)
Lynch syndrome (LS) affects approximately 1 in 400 individuals and predisposes to multiple cancers including colorectal, endometrial, gastric, small bowel, cholangiocarinoma and other tumors. (cdc.gov)

3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.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)
Based on the heterogeneity within a specific tumor type, a combination of genomic alterations defines the cancer subtype, biologic behavior, and in some cases, response to therapeutics. (hindawi.com)
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)
Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.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)
As a result, they lead to the genomic instability and cumulation of other gene alternations (e.g. fusion oncogenes, inactivation of tumor suppressor genes, amplification of the regulators of cell proliferation, apoptosis, drug resistence etc. (alcid.pl)
According to some comprehensive genomic analyses, four major driver genes have been identified in pancreatic cancer: KRAS, CDKN2A, TP53, and SMAD4. (biomedcentral.com)
Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations. (amedeo.com)
Variant allelic frequency of driver mutations predicts success of genomic DNA methylation classification in central nervous system tumors. (amedeo.com)

Some of this discordance may be due to epigenetic defects in breast cancer susceptibility genes such as BRCA1 contributing to breast cancer predisposition. (biomedcentral.com)

Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)

Patients with HNPCC inherit defective DNA mismatch repair genes ( Hereditary Nonpolyposis Colorectal Cancer (HNPCC) ). (mhmedical.com)
The majority of mutations contributing to colorectal tumorigenesis are acquired in the tumor cell (i.e., somatic). (mhmedical.com)
Loss of APC function results in increased level of β-catenin and activation of growth-promoting genes via the increased β-catenin/Tcf-4 transcription complexes, subsequently leading to the development of adenomatous colorectal polyps at a young age ( 9 ). (spandidos-publications.com)

Consideration of tumor heterogeneity is therefore important in the critical analysis of gene associations in cancer. (hindawi.com)
This is mainly attributed to cellular heterogeneity of these tumors with multiple cell of origin, lack of effective drugs that cross the blood brain barrier and the absence of molecular markers that could be used for targeted therapy. (springeropen.com)
These insights, in turn, have prompted novel, testable hypotheses, to be discussed, pertaining to fundamental aspects of cancer biology including the potential stem cell/progenitor cell origins of cancer and the plasticity of gene expression that may underlie tumor heterogeneity and tumor progression. (esmed.org)
The heterogeneity of driver alterations in a tumor type presents a major challenge to the efforts to develop a comprehensive toolbox of targeted therapies to extend personalized cancer medicine driven by genomics information. (biomedcentral.com)

2014). The activation of these genes contributes to the increase in cell proliferation and the progression of breast tumor. (grand-essays.com)
The WT1 protein mediates the mesenchymal-epithelial transition and differentiation during morphogenesis of the kidney and gonad by repressing genes that encode cell proliferation factors and by activating genes that encode markers of epithelial cell differentiation. (medscape.com)
HOX and homeobox genes play an important role in the regulation of many processes including cell proliferation, differentiation, angiogenesis, receptor signaling, apoptosis and regulate transcription of target androgen receptor genes [ 16 ]. (biomedcentral.com)
Mutations in the PTEN gene prevent the PTEN protein from regulating cell proliferation effectively, leading to uncontrolled cell division and the formation of hamartomas and cancerous tumors. (medlineplus.gov)

High quantity of catenins moves into the nucleus leading to the expression of Wnt target genes (Horne, et al. (grand-essays.com)
Exons 1-6 of the WT1 gene encode the regulatory domain, which regulates expression of target genes, and exons 7-10 encode the 4 zinc fingers of the DNA-binding region of the WT1 protein. (medscape.com)
2012. "Novel target genes and a valid biomarker panel identified for cholangiocarcinoma. (esmed.org)

Individuals with germline mutations in the BRCA1 gene have an elevated risk of developing breast cancer, and often display characteristic clinicopathological features. (biomedcentral.com)
Tumour DNAs from these three patients were heavily methylated at BRCA1 . (biomedcentral.com)
the earlier in tumorigenesis methylation occurs, the greater the similarity to tumours arising from germline BRCA1 mutations. (biomedcentral.com)
Care of individuals positive for the BRCA1/2 consists in life long dispensarization, prevention of primary manifestation of tumor and possibility of targeted genetic family screening. (alcid.pl)

p16 INK4a is a candidate gene that could account for the cancer predisposition in p53 wild type LFS families. (bmj.com)
In view of the comparable biological and phenotypic features of p53 and p16 INK4a inactivation, we proposed that germline inactivation of the p16 INK4a gene could account for the predisposition to cancer development in a proportion of LFS families that harboured wild type p53 . (bmj.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)
These results mechanistically link leukemia predisposition to germline genetic constraints on cellular fitness, and provide a rational framework for clinical surveillance strategies. (nature.com)
When parents inherit one normal and mutant copy of the P53 gene, though the individual has a genetic predisposition for cancer, it will usually remain unaffected. (geneticeducation.co.in)

The review highlights the discovery of oncogenes and suppressor tumor genes, underlining the crucial role of these achievements in cancer diagnosis and therapies. (jcancer.org)
Without doubt, the first human transforming gene, and more broadly, oncogenes and anti-oncogenes, had been previously theorized by Theodor Boveri. (jcancer.org)
This progression is the result of a series of genetic changes that involve activation of oncogenes and inactivation of tumor suppressor genes. (mhmedical.com)

The progression of a tumor has different stages that can be influenced by E-cadherin expression (Pinto, Widodo, Waltham, & Thompson, 2013). (grand-essays.com)
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics. (amedeo.com)

8 9 This lack of an absolute phenotype:genotype concordance could be attributed to incomplete screening of the p53 gene, inactivation of the p53 protein through interaction with other cellular proteins or viruses, or defects in other genes involved in p53 mediated cell cycle regulatory pathways. (bmj.com)
What pathways are this gene/protein implicaed in? (cancerindex.org)
Altered expression of HOX genes may be important for oncogenesis and tumor suppression by influencing various pathways that promote tumorigenesis and metastasis. (biomedcentral.com)
Genetic alterations affecting genes functioning in the following five pathways are commonly observed: APC, RAS/RAF , TGF-β, AKT, and p53 . (mhmedical.com)

EIF6 inactivation mediates a compensatory pathway with limited leukemic potential by ameliorating the underlying SDS ribosome defect and enhancing clone fitness. (nature.com)
TP53 mutations define a maladaptive pathway with enhanced leukemic potential by inactivating tumor suppressor checkpoints without correcting the ribosome defect. (nature.com)
As a result of this translocation the auto inhibitory domain of BRAF is lost and the MAPK/ERK pathway is constitutively activated in these tumors. (springeropen.com)
Activating mutations in genes of the RAS/RAF pathway occur in benign tumors and appear to drive their clonal expansion into larger tumors. (mhmedical.com)

The term hereditary carcinoma (HC) is preferred - familial occurrence of tumors does not have to have a real inherited genetic background. (alcid.pl)
Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)

Cells then undergo transcriptional and epigenetic changes to ensure this inactivation is permanent (such as methylation and being modified into Barr bodies). (wikipedia.org)
13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)
17 Methylation has not been reported to date in the germline. (bmj.com)
Investigators have studied DNA methylation in tumor cells for nearly 50 years. (esmed.org)
Differences in gene-specific methylation between cancer cells and their normal counterparts were described more than 30 years ago. (esmed.org)
Over the past 10 years we have been witness to an explosion of investigation into the epigenetic basis of cancer, and application of the powerful genome-wide DNA methylation profiling techniques to be reviewed have yielded critical insights into the organization of the cancer methylome with its broad regions of hypomethylation and foci of hypermethylation resulting in critical differences in gene expression and chromosomal stability compared to normal cells. (esmed.org)

E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
17 Germline p16 INK4a alterations are associated with familial melanoma. (bmj.com)
Some patients with RB exhibit reduced expressivity, such as in 15% of unilateral and non-familial cases that actually have germline mutations. (paojournal.com)
As we are in the era of evidence-based molecular diagnosis, predictive testing, genetic counseling, gene-informed cancer risk assessment, and preventative and personalized medicine, therefore, studying the Mendelian genetics of the familial forms of cancer is one approach that can set up the basis for gene-informed risk assessment and management for the patient and family. (intechopen.com)

Both p53 wild type and p53 mutant samples were included in the p16 INK4a analysis to determine whether germline alterations of one gene precluded the occurrence of alterations of the other. (bmj.com)
Nowell, a tumor biologist in the pathology department at the University of Pennsylvania School of Medicine, was interested in the relationship between cancer and alterations in genes (although he had no proof there was one). (laskerfoundation.org)
Mutations leading to VHL loss of function result in a number of diseases including the VHL syndrome, an inherited disorder due to the germline VHL alterations. (standardofcare.com)
I identify the subset of targets of each TF most likely mediating the tumorigenic effect of their driver alterations in each tumor type, and explore their overlap. (biomedcentral.com)
The systematic detection of these circuits may be key to propose novel therapeutic strategies indirectly targeting driver alterations in tumors. (biomedcentral.com)
One step in this direction is thus to understand exactly which downstream genes and cellular processes become affected in the outcome of driver alterations. (biomedcentral.com)

Large tumor genome sequencing projects have now uncovered a few hundred genes involved in the onset of tumorigenesis, or drivers, in some two dozen malignancies. (biomedcentral.com)
First, I explore their involvement in tumorigenesis as mutational drivers in 28 different tumor types. (biomedcentral.com)
Furthermore, I am able to identify other driver genes that cause tumorigenesis through the alteration of very similar sets of targets. (biomedcentral.com)

Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. (nih.gov)
The diagnosis of LZTR1 - or SMARCB1 -related schwannomatosis is established in a proband with characteristic clinical findings and identification of a heterozygous germline pathogenic variant in LZTR1 or SMARCB1 . (nih.gov)

A critical requirement for developing such agents is to identify druggable targets required for the proliferation or survival of tumor cells, but not of other cell types. (cancerindex.org)
It is therefore conceivable that the inhibition of the function of these genes may specifically affect the proliferation and survival of brain tumor cells. (cancerindex.org)
Low to moderate levels of CIN seems to be well tolerated and can promote cancer proliferation, genetic diversity, and tumor evolution. (encyclopedia.pub)
CIN can promote selective advantage to cancer cells by increasing the probability of novel chromosomal abnormalities, which can change the expression profile of the genes regulating cell division and differentiation, resulting in high proliferation rates [ 3 ] [ 4 ] . (encyclopedia.pub)

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)
Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). (oncotarget.com)

We identified and characterized the type of mutations in exons 13-21 of the RB1 gene by polymerase chain reaction (PCR) amplification and sequencing and correlated the mutations with patients' clinical presentation and family history. (paojournal.com)
The APC gene comprises of 16 exons (NM_000038.5), including1 upstream non-coding exon and 15 coding exons. (spandidos-publications.com)

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)
HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. (nih.gov)
However, ~20,000 is the number of protein-coding genes. (tripod.com)
This gene encodes a large protein that functions as a GDP to GTP exchange factor. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
The Von Hippel-Lindau tumor suppressor also known as pVHL is a protein that, is encoded by the VHL gene. (standardofcare.com)
The protein functions as a tumor suppressor. (standardofcare.com)
Hydroxylation of HIF creates a binding site for pVHL,the protein product of the VHL gene. (standardofcare.com)
The gene encodes for a multifunction protein of 403 aminoacidic with lipid and protein phosphatase activities. (sgo-iasgo.com)
This gene provides instructions for making a protein called killin. (medlineplus.gov)
Like the protein produced from the PTEN gene, killin probably acts as a tumor suppressor. (medlineplus.gov)
The WWP1 gene provides instructions for making a protein that is involved in the process that targets other proteins to be broken down (degraded) within cells. (medlineplus.gov)

There are two theories on the mechanism Xce uses to affect inactivation. (wikipedia.org)
In addition, a similar two-hit mechanism, with bi-allelic inactivation of the tumor suppressor gene NF1 in αSMA-positive glomus cells, just like the one described in neurofibroma-derived Schwann cells, could explain an increased rate of these tumors in NF1 patients [ 5 ]. (cdlib.org)
The discovery of epigenetic silencing as a key mechanism of tumor suppressor gene inactivation in human cancer has led to great interest in utilizing epigenetic modulatory drugs as cancer therapeutics. (nebraska.edu)
CIN not only occurs as a tumor-promotor mechanism but also as a tumor-suppressor mechanism. (encyclopedia.pub)

Precision Revisited: Targeting Microcephaly Kinases in Brain Tumors. (cancerindex.org)
Glioblastoma multiforme and medulloblastoma are the most frequent high-grade brain tumors in adults and children, respectively. (cancerindex.org)
Pediatric brain tumors are the second most common childhood malignancy after leukemia accounting for 25% of cases. (springeropen.com)
Despite advances in surgery, chemotherapy and radiotherapy, brain tumors continue to be the leading cause of cancer-related death in children. (springeropen.com)
Asrtrocytoms are the most common type of brain tumors seen in children compromising 53% of tumors [ 1 ]. (springeropen.com)

As many as 4 in 10 small kidney tumors turn out to be noncancerous tumors like renal oncocytomas . (healthyskinworld.com)
People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. (medlineplus.gov)

Although the tumor was considered to have been fully resected and had not spread to any nodes, the patient died of recurrent cancer within 1 year. (medscape.com)
Thus, the decrease of E-cadherin would obviously lead to the dissemination of cancer cells as well as the growth of the tumor. (grand-essays.com)
While this may reflect the fact that we have yet to identify the next BRCA gene, it may also reflect the polygenic nature of breast cancer susceptibility. (hindawi.com)
Due to the heterogeneous nature of tumors, molecular profiling is crucial to our understanding of how genomics plays a role in the cause or development of an individual cancer. (biomedcentral.com)
To address these issues, we retrospectively reviewed male BRCAm carriers with a diagnosis of tumor from our cancer genetics database (SYSUCC cohort, n = 52) and a public database (TCGA cohort, n = 294). (biomedcentral.com)
In cases with mutations in the HOXB13 gene, the family history of cancer was negative. (biomedcentral.com)
Thus the genetic basis leading to a better or worse prognosis for survival in cancer patients may be dependent on functional polymorphisms in genes such as genes responsible for tumor transformation, xenobiotic metabolism, oxidative stress, detoxification and DNA repair. (biomedcentral.com)
Genes whose expression leads to the development of bladder and kidney cancer are being searched for. (biomedcentral.com)
To date, no genes with high penetration into bladder cancer or kidney cancer have been identified. (biomedcentral.com)
Amazingly, the first human cancer gene was cloned only thirty years ago. (jcancer.org)
Cancer has been in existence on Earth even before the appearance of man, as evidenced by paleontological findings of tumors in animals ( 1 , 2 ). (jcancer.org)
2006. "let-7 microRNA functions as a potential growth suppressor in human colon cancer cells. (esmed.org)
Cancer is a complex genetic disease caused by abnormal alteration (mutations) in DNA sequences that leads to dyregulation of normal cellular processes thereby driving tumor growth. (intechopen.com)
Exploiting the aforementioned catalogs of driver genes, for example, we recently revealed the mutational landscape of chromatin regulatory factors (CRFs) in cancer [ 5 ]. (biomedcentral.com)
There are two main reasons why the catalogs of cancer drivers produced by the aforementioned projects and others need to be broken down into related sets of genes for deeper analysis. (biomedcentral.com)
As such, prostate cancer is sensitive to androgen levels and androgen depletion therapy via chemical or surgical castration is an initial step in treatment, typically resulting in tumour regression. (prolekarniky.cz)
However, the cancer normally re-grows and develops as a castration-independent tumour. (prolekarniky.cz)
The most prominent target gene is BRCA, in which mutations were first identified in breast cancer and ovarian cancer. (biomedcentral.com)
Pancreatic cancer has also been reported to have a strong relationship with BRCA gene mutations, which indicates that pancreatic cancer patients may benefit from PARP inhibitors. (biomedcentral.com)
Importantly, vast amounts of information about features distinguishing tumor from normal cells is being accumulated, resulting in frequent, major new insights into cancer biology. (biomedcentral.com)
The study of the genetic basis of RCC has led to the identification of at least twelve genes involved in the development of this cancer. (sgo-iasgo.com)
Genitourinary tumors such as kidney and prostate cancer are associated with CS, in particular RCC considered one of the diagnostic criteria. (sgo-iasgo.com)
One exception is hu- humanized SCID mice, the use of al oncogenic viruses that are strictly man T-cell lymphotropic virus type 1 surrogate hosts has not proven very species-specific, causing cancer in (HTLV-1): in addition to its ability to useful for defining tumour site con- humans only. (who.int)
Animal models for human tumour mental animals is not easy to answer does induce adult T-cell leukaemia/ viruses that make use of animal virus- for these agents, because cancer bi- lymphoma (ATLL), albeit in monkeys es are scarce. (who.int)
Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)
Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution. (lu.se)

The presumed gene count of 100,000 for human genome drastically went down to around 20,000 after the completion of Human Genome Project. (tripod.com)
The catalog of driver genes involved in the development of several malignancies has grown in recent years, as a result of whole-exome and whole-genome analyses of cohorts of tumors, mainly within the framework of large international consortia [ 3 , 4 ]. (biomedcentral.com)

MEN-1 is known to cause multiple tumors within the pancreas, pituitary, parathyroid, and adrenal glands through an autosomal dominant pattern of inheritance. (medscape.com)
In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)

In contrast, there were no significant associations of disease duration, anti-tumour necrosis factor alpha antibodies, or other clinical factors with mCAs. (bvsalud.org)
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)
From a clinical perspective, convincing data indicate that epigenetic modulatory agents, including DNA methyltransferase (DNMT) and histone deacetylase (HDAC) inhibitors, robustly promote the expression of CG antigens, as well as class I major histocompatibility complex (MHC I) and other immune costimulatory molecules, in tumors. (nebraska.edu)
Taken together, these data encourage clinical evaluation of combination therapies involving epigenetic modulatory drugs and CG antigen-directed tumor vaccines for the treatment of human malignancies. (nebraska.edu)
See Wilms Tumor: A Pediatric Oncology Success Story , a Critical Images slideshow, to help identify the clinical features, staging evaluation, prognostic factors, and therapeutic options for this disease. (medscape.com)
Genetic testing is, therefore, a valuable adjunct to the clinical management of RB patients and their family members, since it gives diagnostic certainty,Ophthalmologyfacilitates timely treatment, reduces unnecessary examinations, aids genetic counseling for reproductive planning, and allows early tumor detection in at-risk individuals. (paojournal.com)
These findings provide an overview of the distinct characteristics and clinical outcomes of male patients with BRCA-associated tumors, suggesting the importance of further genetic BRCA testing in males. (biomedcentral.com)
The clinical characteristics and prognostic implications of BRCA-associated tumors in males are also underdetermined. (biomedcentral.com)
In the current study we examine the prevalence of KIAA1549-BRAF gene fusion in pediatric patients diagnosed with low grade glioma in the Egyptian population and its relationship to clinical and histological subtypes. (springeropen.com)
Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics. (amedeo.com)

Each allele has a different likelihood of inactivation, with a (wikipedia.org)
Unfortunately, during the 17p deletion, the normal allele for the P53 gene is lost and resulting in the loss of heterozygosity. (geneticeducation.co.in)
Furthermore, at the epigenetic level, sometimes insufficient gene expression of a single normal allele also causes sudden carcinoma. (geneticeducation.co.in)

This heterodimer of HIF activates genes that encode for proteins such as vascular endothelial growth factor (VEGF) and erythropoietin, proteins that are both involved in angiogenesis. (standardofcare.com)

Choroidal melanoma is the second most common intraocular tumor - metastasis being the most frequent - and the most common primary intraocular malignancy in the adult population. (eyewiki.org)
At the cellular level, the molecular expression for metastasis is heavily biased towards one of the three cell types that make up uveal melanoma tumors. (eyewiki.org)
These epitheloid cells appear to have an intrinsic affinity for metastasis and are considered to be the make up more high-risk lesion, however, 87% of primary tumors have a mixture of all three cell types. (eyewiki.org)

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)
When events like deletion, duplication or gene conversion prevent the inheritance of a gene, gene(s) or a chromosomal part from one parent, the phenomenon is defined as loss of heterozygosity. (geneticeducation.co.in)

This review hypothesized that inactivation of PTEN could have dramatic consequences on response of treatments in patients with Cowden Syndrome. (sgo-iasgo.com)
Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions. (medlineplus.gov)
Changes in the PTEN , KLLN , or WWP1 gene are most commonly identified in people with Cowden syndrome or Cowden-like syndrome. (medlineplus.gov)
About 25 percent of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. (medlineplus.gov)

The genes encoding enzymes involved in the process of metabolic activation, detoxification and DNA repair are polymorphic and there are some structural variants of genes in the population associated with different activity of the enzyme they encode. (biomedcentral.com)

Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)

Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. (spandidos-publications.com)

26-29 Where available, samples from more than one family member were examined to determine whether a germline gene alteration occurred de novo or was inherited. (bmj.com)
Here, I focus on driver transcription factors and their connection to tumorigensis in several tumor types through the alteration of the expression of their targets. (biomedcentral.com)
Therefore, a single germline alteration may be the cause of the development of RCC in 4-6% of patients. (sgo-iasgo.com)
Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions. (amedeo.com)

In striking contrast, complete deletions of band 11p13 result in the Wilms tumor, aniridia, genitourinary malformations, and mental retardation (WAGR) syndrome , which is characterized by structural urinary tract abnormalities without nephropathy. (medscape.com)

4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
The gene, which is called MYBL2 , encodes a transcription factor that helps to control the cell division cycle. (elifesciences.org)

If are suspected to have clear cell renal cell carcinoma, your doctor will use imaging scans such as X-rays, CT or MRI to look at the size of the tumor. (healthyskinworld.com)

in the incomplete forms of the syndrome, the nephropathy is present with either Wilms tumor or intersex disorders , but the vast majority of patients with Denys-Drash syndrome are destined to develop Wilms tumor in any residual renal tissue. (medscape.com)
Gross nephrectomy specimen shows a Wilms tumor pushing the normal renal parenchyma to the side. (medscape.com)

used gene silencing techniques to reduce the expression of MYBL2 in mice and showed that this induced symptoms of myeloid malignancies in the animals. (elifesciences.org)
In addition to revealing a new tumor suppressor gene and its contribution to myeloid malignancies, the study by Heinrichs et al. (elifesciences.org)

This hypothesis takes into account an origin in the pluripotent stem cells of the neural crest that can form three distinct cellular lines: neurons, Schwann cells, and smooth muscle-like myofibroblasts positive for αSMA, just like the αSMA positive glomus cells in the glomus tumors. (cdlib.org)
3. Rutkowski JL, Wu K, Gutmann DH, Boyer PJ, Legius E. Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. (cdlib.org)

Later studies confirmed the presence of these gene fusions, primarily in 65-75% of PAs and PMAs. (springeropen.com)

The current models for CIN involve telomere dysfunction, defective spindle assembly, sister chromatid cohesion, DNA double-strand breaks (DSB) repair, genes involved in the cell cycle, and epigenetic regulators. (encyclopedia.pub)

Loss of heterozygosity at 11q22-23 (the location of the ATM gene) is a common event in lymphoid malignancy. (bmj.com)
Malignancy: The vast majority of patients with Denys-Drash syndrome are destined to develop Wilms tumor in the native kidneys and are at significant risk for development of gonadoblastoma in the dysgenetic gonads. (medscape.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)
Myeloid malignancy patients lacking one copy of this gene showed levels of MYBL2 expression that were less than 50% of those in healthy individuals. (elifesciences.org)
The modified cells are able to expand more robustly than normal cells, and this dominance induced by downregulation of the tumor suppressor increases the risk of malignancy. (elifesciences.org)

While imaging tests can detect a tumor, they cant show whether the mass is benign or malignant. (healthyskinworld.com)

We conducted a retrospective pan-tumor survey on 346 cases of BRCA-associated tumors in males. (biomedcentral.com)
For tumor cells with BRCA mutations, HRR loss would result in cell death. (biomedcentral.com)

Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes. (amedeo.com)

Only αSMA-positive glomus cells harbor somatic and germline NF1 mutations. (cdlib.org)

After surgery, healthcare providers take a biopsy of the tumor tissue. (healthyskinworld.com)

17 FA disease genes have been reported, all of which act in a recessive mode of inheritance. (uni.lu)
The disease then typically presents at an earlier age, is bilateral, and tumors are multifocal. (paojournal.com)
The disease usually presents at a later age, is unilateral, and tumors are unifocal. (paojournal.com)
Mutations of the VHL gene are associated with Von Hippel-Lindau disease. (standardofcare.com)
and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. (medlineplus.gov)

Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of congenital nephropathy, Wilms tumor , and intersex disorders resulting from mutations in the Wilms tumor suppressor ( WT1 ) gene. (medscape.com)
Worldwide, more than 200 cases of Denys-Drash syndrome have been reported since 1967, when Denys et al originally described a child with nephropathy, ambiguous genitalia, and Wilms tumor. (medscape.com)
A Gradual Transition Toward Anaplasia in Wilms Tumor Through Tolerance to Genetic Damage. (lu.se)

Gastrinomas are neuroendocrine tumors that are usually found in the duodenum wall (approximately 50%) or in the pancreas. (medscape.com)
Gastrinomas are the second most common neuroendocrine tumors in the overall population, after insulinomas and before vasoactive intestinal polypeptide tumors (VIPomas) and glucagonomas. (medscape.com)

Gastrin-producing tumors or gastrinomas cause excessive gastric acid secretion, leading to these ulcers of the upper gastrointestinal (GI) tract, as well as diarrhea and severe abdominal pain (see the following image). (medscape.com)

We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. (nih.gov)
Point mutations in the WT1 gene result in loss of its regulatory function, with the consequent abnormalities in glomerular formation and gonadal differentiation seen in Denys-Drash syndrome. (medscape.com)
Mutations that disrupt the second alternative splicing site of the WT1 gene alter the normal ratio of KTS-positive/negative isoforms from 2:1 to 1:2 and result in abnormalities in glomerular formation and gonadal differentiation seen in Frasier syndrome. (medscape.com)
Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes. (medlineplus.gov)
however, research is needed to determine what role mutations in this gene play in causing the other features of Cowden syndrome, such as macrocephaly and intellectual disability. (medlineplus.gov)
Rarely, Cowden syndrome and Cowden-like syndrome result from a change involving the KLLN gene. (medlineplus.gov)
A small percentage of Cowden syndrome and Cowden-like syndrome are associated with variants in the WWP1 gene. (medlineplus.gov)

LGG tumors are generally associated with good prognosis with a 87% over all long term survival of 20 years. (springeropen.com)
HIF1A binds upstream of majorly good prognosis genes, while HIF2A binds upstream to majorly poor prognosis genes. (standardofcare.com)

However, a major limitation to the therapeutic value of CG antigen-directed vaccines is the limited and heterogeneous expression of CG antigens in tumors. (nebraska.edu)
Importantly, the effects of these agents on CG antigen gene expression often show marked specificity for tumor cells as compared to normal cells. (nebraska.edu)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
These are the so-called high penetration genes or so-called low penetration genes whose expression disturbs metabolism and may initiate the process of neoplastic transformation of various organs. (biomedcentral.com)
This suggests that additional mechanisms must be acting to reduce expression of their remaining copy of the gene. (elifesciences.org)
Hence, this finding reveals a more general role for MYBL2 as it indicates that more patients are likely to be affected by altered expression of this gene. (elifesciences.org)
These in vitro, and their expression in these human tumour virus. (who.int)

Anatomy21

Organisms11

Diseases48

Chemicals and Drugs70

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Psychiatry and Psychology1

Phenomena and Processes80

Disciplines and Occupations2

Information Science3

Mutation30

BRCA213

Chromosome23

Sporadic5

Cancers14

Genomic10

Breast cancer susceptibility genes1

Mutations in the tumor1

Colorectal3

Heterogeneity4

Cell proliferation4

Target genes3

BRCA14

Predisposition5

Oncogenes3

Progression2

Pathways4

Pathway4

Hereditary2

Methylation6

Familial4

Alterations6

Tumorigenesis3

Heterozygous2

Proliferation4

Missense2

Exons2

Protein12

Mechanism4

Brain tumors5

Noncancerous tumors2

Cancer26

Genome2

Parathyroid2

Clinical10

Allele3

Proteins1

Metastasis3

Deletion2

PTEN4

Encode1

TP531

Adenomatous1

Alteration4

Genitourinary1

Encodes2

Clear Cell Renal Cell Carc1

Renal2

Malignancies2

Cellular2

Fusions1

Epigenetic1

Malignancy5

Malignant1

BRCA2

Oncogenic1

Harbor1

Tissue1

Disease5

Wilms3

Neuroendocrine2

Gastric1

Syndrome7

Good prognosis2

Expression7