Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A high frequency of PALB2 mutations in Jamaican patients with breast cancer. 28194609

2017
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. 27469594

2016
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. 25985138

2015
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 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: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Squamous Cell Carcinoma of the Pancreas in a Patient with Germline BRCA2 Mutation-Response to Neoadjuvant Radiochemotherapy. 24959366

2014
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. 21990299

2011
dbSNP: rs80358981
rs80358981
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. 9150154

1997