rs80357268, BRCA1
N. diseases: 6
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 | GeneticVariation | CLINVAR | Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | 28781887 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. | 23536787 | 2013 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Toward classification of BRCA1 missense variants using a biophysical approach. | 20378548 | 2010 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Nursing welcome mat to the hospital, an advanced practice nurse's responsibility. | 20526115 | 2010 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | 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 | GeneticVariation | CLINVAR | Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. | 18992264 | 2009 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets. | 19452558 | 2009 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Thermal unfolding of human BRCA1 BRCT-domain variants. | 17493881 | 2007 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Functional impact of missense variants in BRCA1 predicted by supervised learning. | 17305420 | 2007 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | 16267036 | 2005 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. | 16284991 | 2005 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay. | 15004537 | 2004 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. | 15172985 | 2004 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. | 14534301 | 2003 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. | 12142080 | 2002 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | The breast cancer information core: database design, structure, and scope. | 10923033 | 2000 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | The BRCA1 C-terminal domain: structure and function. | 10946236 | 2000 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR | Structure of an XRCC1 BRCT domain: a new protein-protein interaction module. | 9799248 | 1998 |