Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. 26350514

2016
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 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: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population. 21918853

2012
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. 22923021

2012
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. 20960228

2011
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 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: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2. 22460208

2010
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. 18783588

2008
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain). 16758124

2006
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews. 17020472

2006
dbSNP: rs80359473
rs80359473
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 15070707

2004