Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357823
rs80357823
BRCA1
TG 0.700 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs80357823
rs80357823
BRCA1
TG 0.700 CausalMutation CLINVAR Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma. 25940717

2015
dbSNP: rs80357823
rs80357823
BRCA1
TG 0.700 CausalMutation CLINVAR Performance of BRCA1/2 mutation prediction models in Asian Americans. 18779604

2008
dbSNP: rs80357823
rs80357823
BRCA1
TG 0.700 CausalMutation CLINVAR Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. 27062684

2016
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania. 20345474

2010
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967

1996
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. 22185575

2011
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Molecular and in silico analysis of BRCA1 and BRCA2 variants. 18694767

2008
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. 15994883

2005
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR The contribution of founder mutations in BRCA1 to breast cancer in Belarus. 20507347

2010
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. 15353005

2004
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. 7894492

1994
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. 20569256

2010
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. 9150153

1997
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. 12142080

2002
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. 9042909

1997
dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR Frequency of BRCA1 mutation 5382insC in German breast cancer patients. 10053113

1999
dbSNP: rs786203663
rs786203663
BRCA1
TCACT 0.700 CausalMutation CLINVAR Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. 25628955

2015
dbSNP: rs786203663
rs786203663
BRCA1
TCACT 0.700 CausalMutation CLINVAR Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. 21614564

2012
dbSNP: rs786203663
rs786203663
BRCA1
TCACT 0.700 CausalMutation CLINVAR Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. 23233716

2013
dbSNP: rs786203663
rs786203663
BRCA1
TCACT 0.700 CausalMutation CLINVAR Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. 16030099

2005
dbSNP: rs786203663
rs786203663
BRCA1
TCACT 0.700 CausalMutation CLINVAR Frequency of germline and somatic BRCA1 mutations in ovarian cancer. 9796975

1998
dbSNP: rs786203663
rs786203663
BRCA1
TCACT 0.700 CausalMutation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003