Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR The breast cancer information core: database design, structure, and scope. 10923033

2000
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer. 12827452

2003
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 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
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. 11595708

2001
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
T 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80357530
rs80357530
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. 10498392

1999
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 22711857

2012
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. 7837387

1995
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Postoperative respiratory failure due to acute eosinophilic pneumonia. 2246425

1990
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. 26543556

2015
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791

2006
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 12181777

2002
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Low-grade adenosquamous carcinoma of the breast--A case report with a BRCA1 germline mutation. 20189727

2010
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation. 8595420

1995
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation 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
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Germline BRCA1-2 mutations in non-Ashkenazi families with double primary breast and ovarian cancer. 11606101

2001
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. 11597388

2001