Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. 25256238

2015
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. 26026974

2015
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477

2015
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. 24884479

2014
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. 23569316

2013
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. 23479189

2013
dbSNP: rs80357522
rs80357522
BRCA1
C 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: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Germline BRCA1 mutations increase prostate cancer risk. 22516946

2012
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. 22970155

2012
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report. 21559243

2011
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan. 21751003

2011
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672

2010
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR BRCA1 2080insA mutation in familial breast cancer. 18340530

2009
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series. 17645508

2008
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. 16455195

2007
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR MYC is amplified in BRCA1-associated breast cancers. 14760071

2004
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 12955716

2003
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. 14517958

2003
dbSNP: rs80357522
rs80357522
BRCA1
CT 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 12181777

2002