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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GenomicAlterations disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 CausalMutation disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 CausalMutation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE The proportion of older-onset breast cancer attributable to BRCA 1 is not yet determinable, because both inherited and sporadic cases occur in older-onset families. 1598904 1992
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE Genetic recombination with the breast cancer trait excludes RARA from further consideration as a candidate gene for BRCA1. 8401501 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE A comparison of the Cancer and Steroid Hormone Study (CASH) model and a model which assumes a rare dominant susceptibility locus with low penetrance and no phenocopies stresses the difficulties in assessing linkage if the assumptions of the CASH model in terms of age at onset of breast cancer are not appropriate for the BRCA1 locus. 8460640 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Women with germline mutations in BRCA1 are estimated to have an 85% lifetime risk of developing breast cancer and an increased but as yet undetermined risk of ovarian cancer. 8352830 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE One of the two families with evidence of linkage between breast cancer and genetic markers flanking BRCA1 represents the first such family of African-American descent to be reported in detail. 8460646 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE Another locus on 17q (BRCA1), was found to be linked to the disease in a subset of families with breast cancer. 8454289 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE In addition, if acquired genetic mutations of the BRCA1 gene are involved as early events in the development of non-familial forms of the disease, early detection of possible breast carcinoma may become feasible in biopsy of breast tissue. 8173065 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Evidence against linkage to 11q was strongest among families that may involve the BRCA1 breast cancer susceptibility gene on 17q21. 8221639 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE Evidence for involvement of BRCA1 in sporadic breast carcinomas. 8168077 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE In addition, many of the markers reveal genetic polymorphisms and may be tested in breast cancer families and in loss-of-heterozygosity studies of sporadic breast cancers to better define the BRCA1 gene candidate region. 8116622 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE The imminent isolation of BRCA1 will make predictive testing for breast cancer a reality for many women and likely will pave the way for novel diagnostic and therapeutic strategies in the future. 8039134 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE One such gene (p53) has been identified and a second (BRCA1) has been precisely mapped in the human genome, but further breast cancer predisposition genes remain to be identified. 7999429 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1. 7874107 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE A gene from chromosome region 17q12-q21, designated BRCA1, identified in 1990 by Dr Mary-Claire King and colleagues, predisposes to both cancer of the breast and the ovary. 7987646 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE Since the proportion of families linked to BRCA1 is larger in Western early-onset breast cancer families than in late-onset ones, we also summed the LOD scores of five early-onset families. 7852187 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. 7939630 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Chromosome 17q21 harbors a gene (BRCA1) associated with a hereditary form of breast cancer. 8116621 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE Our results indicate that there is a gene(s) other than BRCA1 which predisposes to early-onset breast cancer in women and which confers a higher risk of male breast cancer. 8075631 1994