BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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 Biomarker disease GENOMICS_ENGLAND
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 CausalMutation disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GenomicAlterations disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease HPO
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 CausalMutation disease CLINVAR
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Linkage of early-onset familial breast and ovarian cancer to 11 markers on chromosome 17q12-q21 defines an 8-cM region which is very likely to include the disease gene BRCA 1. 1598904 1992
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE We have analysed 60 families with a history of breast and/or ovarian cancer for germline mutations in BRCA1. 7493024 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Over a dozen tumor suppressor genes have now been discovered including a breast and ovarian cancer susceptibility gene, BRCA1. 7495979 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE This deletion region overlaps the BRCA1 locus, which predisposes to familial breast and ovarian cancer. 7511052 1994
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Here, we report the analysis of three marker-disease recombinants in families that contain breast and ovarian cancer, two of which strongly suggest a location for BRCA1 telomeric to D17S702, a microsatellite polymorphism, and a third which suggests a location centromeric to EDH17B, the gene encoding estradiol-17B dehydrogenase. 7519878 1994
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology. 7545954 1994
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE In the context of high-risk families the most important genes are BRCA1 on chromosome 17q, which is associated with a high penetrance of both breast and ovarian cancer, and BRCA2 on chromosome 13q, which causes a high risk of breast cancer but a lower risk of ovarian cancer. 7547224 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE In high-risk pedigrees, female carriers of BRCA1 mutations have an 80-90% lifetime risk of breast cancer, and a 40-50% risk of ovarian cancer. 7550349 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Since allelic loss has been reported in the 17q12-q21 region in breast and ovarian cancer and it appears that BRCA1 is not the target of the losses, we looked for somatic alterations in DLG2 in sporadic breast tumors. 7590743 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE These data are consistent with the hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s). 7606717 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE These results provide further evidence that inherited breast and ovarian cancer can occur as a consequence of a wide array of BRCA1 mutations. 7611277 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE Additionally, efforts using this methodology to generate a microclone library encompassing the early onset breast/ovarian cancer (BRCA1) gene will be presented. 7749145 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE BRCA1 is a breast/ovarian cancer susceptibility gene on human chromosome 17q21. 7753812 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing. 7759075 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease BEFREE A genetic recombinant in a breast-ovarian cancer family indicates a placement of BRCA1 telomeric to D17S776, and helps to define the region of assignment of the cancer susceptibility gene. 7759076 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE The q21 region of chromosome 17 contains the gene BRCA1, which is involved in familial early-onset breast and ovarian cancers. 7774935 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 GeneticVariation disease BEFREE This method has been applied to chromosome bands 17q12-q21, a region that includes a gene (BRCA1) involved in early onset familial breast and ovarian cancer. 7789975 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 PosttranslationalModification disease BEFREE Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers. 7795652 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.800 Biomarker disease CTD_human Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers. 7795652 1995