rs55770810, BRCA1
N. diseases: 10
Source: ALL
Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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 | Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | 11802209 | 2002 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast. | 17574969 | 2007 | |||||
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 | Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | 17308087 | 2007 | |||||
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 | Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | 20516115 | 2010 | |||||
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 | 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 | 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 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
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 | |||||
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 | |||||
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 | Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. | 25472942 | 2015 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." | 28265380 | 2017 |