Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. 26852130

2016
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing. 26745875

2016
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria. 23772696

2014
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia. 22366370

2012
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR A low-grade ovarian carcinoma case with coincident LOH of PTCH1 and BRCA1, and a mutation in BRCA1. 22498944

2012
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers. 19818148

2009
dbSNP: rs80357941
rs80357941
BRCA1
C 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: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. 16287141

2005
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR A high proportion of founder BRCA1 mutations in Polish breast cancer families. 15146557

2004
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. 12491499

2003
dbSNP: rs80357941
rs80357941
BRCA1
C 0.700 CausalMutation CLINVAR Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? 9042907

1997