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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Our results suggest the possibility that the proportion of site-specific breast cancer families attributable to BRCA2 may be overestimated. 8673090 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Two genes associated with a high breast cancer risk (BRCA1 and BRCA2) have been discovered recently from study of large breast-cancer-dense kindreds. 8987214 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE A second breast cancer susceptibility gene, BRCA-2, has been localized to chromosome 13q12-q13 but has not been identified as yet. 8880869 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Mutations in BRCA2 account for approximately 40% of hereditary early-onset breast cancer. 8610259 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. 8524414 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE We used linkage and haplotype analysis with simple tandem repeat polymorphisms at chromosomal bands 17q21 and 13q12 to determine the contribution of the BRCA1 and BRCA2 genes to predisposition to breast cancer in four Australian breast cancer kindreds, one of which had two male cousins with breast cancer. 8682513 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE As the BRCA1 and BRCA2 genes are characterized further, a diagnostic test for breast cancer susceptibility becomes feasible. 8614840 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Inherited mutations in the recently discovered BRCA2 gene are believed to be responsible for a significant fraction of early-onset hereditary breast cancers. 8665505 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE The steady state levels of BRCA1 and BRCA2 mRNAs were shown to be coordinately elevated by the steroid hormone estrogen but not progesterone in the human breast cancer cell lines BT-483 and MCF-7. 8895509 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumours. 8881452 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease UNIPROT Our results indicate that somatic BRCA2 mutations, like somatic mutations in the BRCA1 gene, are very rare in primary breast cancers. 8640237 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE A high-resolution annotated physical map of the human chromosome 13q12-13 region containing the breast cancer susceptibility locus BRCA2. 8570617 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE The BRCA1 185delAG mutation was found in 20% and the BRCA2 6174delT mutation in 8% of Ashkenazi Jewish women with early-onset breast cancer. 8841192 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE Cloning of a breast cancer-predisposing gene (BRCA2) on chromosome 13Q12-14 has been reported recently. 8644738 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE We have analysed germline DNA from 50 males with breast cancer (unselected for family history) and 26 individuals from site-specific female breast and breast-ovarian cancer families for mutations in BRCA2. 8673091 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 AlteredExpression disease BEFREE We have analyzed the expression of the breast cancer susceptibility gene, Brca2, in mammary epithelial cells as a function of proliferation and differentiation. 8917547 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations. 10464631 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Mutations in BRCA1 and BRCA2 are thought to be responsible for the majority of inherited breast cancer. 9217624 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE The BRCA1 and BRCA2 breast cancer genes. 9090499 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE To provide an update on the breast cancer genes BRCA1 and BRCA2 and to review available primary preventive options. 9127359 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 Biomarker disease BEFREE BRCA1 and BRCA2 are the most important of these, accounting for an estimated 80% of hereditary breast cancer and 5 to 6% of all breast cancers. 9005288 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
1.000 GeneticVariation disease BEFREE Alterations of BRCA2 result in increased susceptibility to breast cancer in both men and women (relative lifetime risks of 0.06 and 0.8 respectively). 9174054 1997