BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant neoplasm of female breast ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 Biomarker disease BEFREE In view of these similarities, we investigated whether the prevalence of PALB2 mutations was increased in breast cancer families with the occurrence of BRCA2 associated tumours other than female breast cancer. 20582465 2011
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE However, the observed predominance of BRCA2 (0.12) over BRCA1 mutations (0.05) is in contrast with the higher proportion of BRCA1 mutations communicated for most previous studies, even those with a predominance of site-specific BC families. 21190077 2011
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 Biomarker disease BEFREE For relatives of carriers, the female breast cancer SIRs were 13.13 (95% CI 6.57-26.26) and 12.52 (5.21-30.07) for BRCA1 and BRCA2, respectively. 20877337 2010
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family. 20232139 2010
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. 18759107 2009
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE 64 families with a history of male breast cancer aged 60 or less or with a family history of male and female breast cancer were screened for the presence of BRCA1 and BRCA2 mutations. 17636422 2008
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 Biomarker disease BEFREE The percentage of cases with truncating mutations in BRCA1 and BRCA2 was higher in breast/ovarian cancer (37.0%, mostly BRCA1) and male breast cancer (40%, all BRCA2) families than in families with only female breast cancer (17.5%). 16826315 2006
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Finally in hereditary breast cancer families with three or more female breast cancer cases we observed a low mutation prevalence and a significant association with BRCA2 mutations. 16847550 2006
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE High frequency of somatic missense mutation of BRCA2 in female breast cancer from Taiwan. 15766593 2005
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE The variation in BRCA2 mutation spectrum between Finnish MBC patients and FBC patients in Finland and breast cancer patients in Iceland suggests that modifying genetic and environmental factors may significantly influence the penetrance of MBC and FBC in individuals carrying germline BRCA2 mutations in some populations. 15548363 2005
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 Biomarker disease BEFREE The contribution of BRCA1 and BRCA2 to the incidence of male breast cancer (MBC) in the United Kingdom is not known, and the importance of these genes in the increased risk of female breast cancer associated with a family history of breast cancer in a male first-degree relative is unclear. 11879560 2002
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Our analysis suggested that, after other possible unmeasured familial factors are adjusted for and the known BRCA1 and BRCA2 mutation carriers are excluded, there appears to be a residual dominantly inherited risk of female breast cancer in addition to that derived from mutations in BRCA1 and BRCA2. 11133358 2001
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE 33 families with a history of male breast cancer aged 60 or less or with a family history of male and female breast cancer were screened for the presence of BRCA2 mutations. 14574168 2001
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Mutations in the BRCA2 gene account for the majority of the families with male and female breast cancer cases, and a number of BRCA2 mutations have been reported in males with breast cancer. 10690392 2000
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE In BRCA2 associated families, female breast cancer (SMR 3.03, 95% CI 1.61-5.18, P = 0.0005) was increased after exclusion of index cases. 10615237 1999
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Germ-line mutations of the BRCA2 gene account for the majority of families with both male and female breast cancer. 9500439 1998
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Conversely, the majority of families with male and female breast cancer were due to BRCA2 (76%). 9497246 1998
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE Two cancer susceptibility genes, BRCA1 on chromosome 17q12-21 and BRCA2 on chromosome 13q12-13, are thought to be responsible for approximately 80% of families containing multiple cases of early-onset female breast cancer. 9134530 1997
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 Biomarker disease BEFREE The BRCA2 gene on chromosome 13 has been associated with familial male and female breast cancer. 9383000 1997
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 GeneticVariation disease BEFREE To estimate the proportion of breast cancer families due to BRCA1 or BRCA2, we performed mutation screening of the entire coding regions of both genes supplemented with linkage analysis of 31 families, 8 containing male breast cancers and 23 site-specific female breast cancer. 9042907 1997
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 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: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.100 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