Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318

2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene 28390335

2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291

2016
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015
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 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 Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier. 23086583

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 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. 23633455

2013
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. 22535016

2012
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Germline BRCA1 mutations increase prostate cancer risk. 22516946

2012
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012
dbSNP: rs80357914
rs80357914
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: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR BRCA1 185delAG mutant protein, BRAt, up-regulates maspin in ovarian epithelial cells. 19906413

2010
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
A 0.700 CausalMutation CLINVAR The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. 10090881

1999
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. 7550349

1995
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
A 0.700 CausalMutation CLINVAR Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. 7611277

1995