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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 Biomarker disease HPO
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease CLINVAR
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GenomicAlterations disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE The breast cancer susceptibility gene BRCA1 has been cloned and a second susceptibility gene, BRCA2, chromosomally mapped; will most breast and ovarian cancer turn out to be familial? 7874485 1994
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 Biomarker disease BEFREE Preliminary evidence suggests that BRCA2 confers a high risk of breast cancer but, unlike BRCA1, does not confer a substantially elevated risk of ovarian cancer. 8091231 1994
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. 7677139 1995
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE BRCA1 confers higher risk of ovarian cancer and BRCA2 much higher risk of male breast cancer. 8541881 1995
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Mutations in BRCA2 are thought to account for as much as 35% of all inherited breast cancer as wall as a proportion of inherited ovarian cancer. 8673091 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 Biomarker disease BEFREE A role for BRCA2 in sporadic breast and ovarian cancer has been suggested by loss of heterozygosity (LOH) studies which show frequent LOH in the BRCA2 region at chromosome 13q12. 8705994 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 Biomarker disease BEFREE Our results indicate that BRCA2 confers a very high risk of breast cancer and is responsible for a substantial fraction of breast and ovarian cancer in Iceland, but only a small proportion of other cancers. 8706004 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE BRCA2 carries a risk of breast cancer similar to that of BRCA1, but is associated with a lower risk of ovarian cancer and a higher risk of male breast cancer. 8791478 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Somatic mutations of BRCA2 in sporadic breast and ovarian cancer are very rare. 8875258 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 Biomarker disease BEFREE To define the role of BRCA2 in sporadic breast and ovarian cancer, we screened the entire gene for mutations using a combination of techniques in 70 primary breast carcinomas and in 55 primary epithelial ovarian carcinomas. 8640235 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Recent studies have identified mutations in the breast and (ovarian cancer susceptibility gene 2 (BRCA2), one which has been found in the germline of several males and one female affected with breast cancer. 8758903 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE The entire 10.2-kb coding region of BRCA2 was screened for mutations in 130 consecutive ovarian tumors, the only selection criterion being a pathological diagnosis of epithelial ovarian carcinoma. 8665505 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE The same BRCA2 mutation appears to be associated with different cancer phenotypes in this population including male and female breast cancer, prostate cancer, pancreas cancer and ovarian cancer. 8673089 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 Biomarker disease BEFREE The breast:ovarian cancer ratio in these families was 7:1, suggesting BRCA2 confers a much lower risk for ovarian cancer than does BRCA1. 8875189 1996
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE These BRCA2 families have early-onset breast cancer (mean and median age = 49 years), with four of the eight families including ovarian cancer but with no families including male breast cancer. 9150152 1997
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Women with BRCA1 or BRCA2 mutations have an increased risk of breast cancer and ovarian cancer. 9148160 1997
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE The tumor suppressor genes BRCA1 and BRCA2, which confer increased susceptibility to breast and (or) ovarian cancer, were recently identified. 8990217 1997
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Germline mutations of BRCA2 are predicted to account for approximately 35% of families with multiple case, early onset female breast cancer, and they are also associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. 8988179 1997
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Germline mutations of BRCA1 are also associated with ovarian cancer and mutations of BRCA2 are associated with an increased risk of male breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. 9134530 1997
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.900 GeneticVariation disease BEFREE Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. 9150153 1997