rs55770810, BRCA1

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers. 28831036 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 CausalMutation CLINVAR Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 25472942 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798 2001
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. 21356067 2011