Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
ACT 0.700 CausalMutation CLINVAR Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility. 30262796

2018
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
ACT 0.700 CausalMutation CLINVAR Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. 26543556

2015
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347

2014
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country. 23788959

2013
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. 23658460

2013
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. 22763381

2013
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review. 21643751

2012
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population. 20924075

2011
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
ACT 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 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: rs80357914
rs80357914
BRCA1 ; NBR2
ACT 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: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. 12566964

2003
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. 9921907

1998
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 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: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. 9145676

1997
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Germline BRCA1 185delAG mutations in Jewish women with breast cancer. 8642955

1996
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. 8651293

1996
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. 8571953

1996
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 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: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. 7894492

1994