BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Among the 1331 patients with OC, 227 (17.1%) carried deleterious variants in BRCA1 and 70 (5.3%) carried deleterious variants in BRCA2. 30078507 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Among women with breast cancer diagnosed before age 45, a first-degree relative diagnosed with the disease under age 50 is an indicator of a mutation in BRCA1 or BRCA2 even in the absence of a family history of ovarian cancer. 10595259 1999
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE An accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer. 16484695 2006
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE An association between ocular melanoma and breast and/or ovarian cancer has also been reported and recent studies of breast cancer families strongly implicate BRCA2 as a predisposition gene. 10396383 1999
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. 19377795 2009
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. 12014998 2002
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer. 12203997 2002
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Anthropometric measures and risk of ovarian cancer among BRCA1 and BRCA2 mutation carriers. 22262156 2012
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Approximately 10% of ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). 12413930 2002
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Approximately 10% of pancreatic ductal adenocarcinoma (PDAC) is due to a genetic predisposition, including the breast and ovarian cancer syndrome germline mutations BRCA1 and BRCA2. 24737347 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Approximately 13% of ovarian cancers in Canada are attributable to a mutation in BRCA1 or BRCA2. 19019415 2009
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Approximately 2% of Ashkenazi Jews carry recurrent germline mutations in either the BRCA1 or BRCA2 genes that may predispose these individuals to the development of breast and ovarian cancer. 9360844 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. 21990299 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE At least one of ten patients with ovarian cancer is estimated to develop their tumor because of heredity with the breast and ovarian cancer syndrome due to mutations in the BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) being the major genetic causes. 17343610 2007
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE At the time of RRSO, 7.9% of BRCA1 mutation carriers were diagnosed with microscopic fallopian tube or ovarian cancers and no cases were diagnosed in BRCA2 mutation carriers. 21278312 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Besides BRCA1 and BRCA2 other genes are also likely to be involved in hereditary predisposition to breast and/or ovarian cancer. 16930991 2006
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer. 18559571 2008
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Between 2002-2005, probands from 300 US families with 4 or more cases of breast or ovarian cancer but with negative (wild-type) commercial genetic test results for BRCA1 and BRCA2 were screened by multiple DNA-based and RNA-based methods to detect genomic rearrangements in BRCA1 and BRCA2 and germline mutations of all classes in CHEK2, TP53, and PTEN. 16551709 2006
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Bilateral prophylactic salpingo-oophorectomy (BPSO) is used widely used to reduce the risk of breast and ovarian cancer in women with BRCA1 and BRCA2 mutations. 16510331 2006
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting. 28525389 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Blood samples were collected from 13 women that had a family history of breast and/or ovarian cancer and tested negative for pathogenic mutations in the BRCA1 and BRCA2 genes. 25683334 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA1 and BRCA2 mutation testing was carried out on index cases from 119 families with site-specific epithelial ovarian cancer or breast-ovarian cancer. 10029077 1999
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA1 and BRCA2 mutations in Belgian families with a history of breast and/or ovarian cancer. 10866028 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE BRCA1 and BRCA2 carriers are at increased risk for both breast and ovarian cancer, but estimates of lifetime risk vary widely, suggesting their penetrance is modified by other genetic and/or environmental factors. 11248061 2001
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. 11257103 2001