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 The example of the identification of the BRCA1 and BRCA2 genes in families at high risk for breast and ovarian cancer is presented to illustrate the issues of the sensitivity of the method, the degree of susceptibility a positive result implies, the need for and availability of counseling and patient education, and confidentiality of the test results. 9616739 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 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
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. 9042909 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Linkage to both chromosome 17q21 (BRCA1) and 13q12 (BRCA2) was also excluded in a subset of seven mutation-negative families with four or more cases of breast or ovarian cancer. 9361038 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Only one of the two male breast cancer patients carrying a BRCA2 mutation had a family history of cancer, with one case of ovarian cancer in a first-degree relative. 9012404 1997
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 Women with BRCA1 or BRCA2 mutations have an increased risk of breast cancer and ovarian cancer. 9148160 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1 and BRCA2. 9063749 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations. 9570347 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Recent identification of the breast-ovarian cancer susceptibility gene BRCA1 and the breast cancer susceptibility gene BRCA2 have raised the possibility of clinical genetic testing for breast cancer susceptibility. 9316177 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE The identification of BRCA1 and BRCA2, two breast-ovarian cancer susceptibility genes, has brought many ethical and social issues to the forefront. 9415688 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE The breast carcinoma genes BRCA1 and BRCA2 have been linked to familial and sporadic forms of breast cancer and ovarian cancer, providing an opportunity to test this clinical observation. 9290954 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Mutation screening for the 185delAG and the 5382insC mutations in BRCA1 and the 6174delT mutation in BRCA2 was performed on DNA samples from either subjects affected by breast or ovarian cancer or obligate gene carriers. 9475087 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE The familial breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2 have been the subject of extensive functional analysis studies since their cloning. 10819535 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE In this paper we develop a model for evaluating the probabilities that a woman is a carrier of a mutation of BRCA1 and BRCA2, on the basis of her family history of breast and ovarian cancer in first- and second-degree relatives. 9443863 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Young Ashkenazi Jewish women or those from high-risk families who test positive for BRCA1 or BRCA2 mutant genes have a significant risk of developing breast or ovarian cancer by the age of 70 years. 9508180 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Unique germline mutations in BRCA1 and BRCA2 account for inherited predisposition to breast and ovarian cancer in high-risk families. 9667663 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE The majority of inherited breast and ovarian cancer susceptibility is due to mutations in the BRCA1 and BRCA2 genes; however, other genes responsible for inherited susceptibility to these diseases are yet to be identified. 9484622 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE In women with breast cancer, mutations in BRCA1 and BRCA2 were associated with a 10-fold increased risk of subsequent ovarian carcinoma (P = .005). 9667259 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE In this report we present the results of mutational analysis of the BRCA2 coding sequences in 105 high-risk individuals affected with breast cancer and/or ovarian cancer and previously found to be negative for mutations of the BRCA1 coding sequence in our laboratory. 9654203 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Almost 10% of breast and ovarian cancers are familial, and the majority are linked to BRCA1 and BRCA2 germline mutations. 9818066 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Oral-contraceptive use may reduce the risk of ovarian cancer in women with pathogenic mutations in the BRCA1 or BRCA2 gene. 9700175 1998
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. 9537232 1998