Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
0.710 GeneticVariation BEFREE Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation. 24719479 2014
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation. 24719479 2014
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. 22776961 2012
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. 19370767 2009
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763 2008
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254 2006
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 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: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425 2001
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features. 11506493 2001
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151 1997
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome
A 0.710 CausalMutation CLINVAR Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683 1996