Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. 28490613

2018
dbSNP: rs55851803
rs55851803
BRCA1
T 0.700 CausalMutation CLINVAR Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. 29176636

2018
dbSNP: rs80356898
rs80356898
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. 29335924

2018
dbSNP: rs80356936
rs80356936
BRCA1
C 0.700 CausalMutation CLINVAR Mutations in context: implications of BRCA testing in diverse populations. 28918466

2018
dbSNP: rs80357115
rs80357115
BRCA1
C 0.700 CausalMutation CLINVAR The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel. 29086229

2018
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357389
rs80357389
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018
dbSNP: rs80357472
rs80357472
BRCA1
A 0.700 CausalMutation CLINVAR Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. 29337092

2018
dbSNP: rs80357472
rs80357472
BRCA1
A 0.700 CausalMutation CLINVAR Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. 29176636

2018
dbSNP: rs80357472
rs80357472
BRCA1
A 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357762
rs80357762
BRCA1
CA 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80357808
rs80357808
BRCA1
T 0.700 CausalMutation CLINVAR Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population. 29435039

2018
dbSNP: rs80357877
rs80357877
BRCA1
A 0.700 CausalMutation CLINVAR Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation? 28493033

2018
dbSNP: rs80358099
rs80358099
BRCA1
G 0.700 CausalMutation CLINVAR Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. 28802053

2018
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs876659327
rs876659327
BRCA1
TC 0.700 CausalMutation CLINVAR High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients. 29297111

2018
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017
dbSNP: rs28897672
rs28897672
BRCA1
C 0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363

2017
dbSNP: rs28897672
rs28897672
BRCA1
C 0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017
dbSNP: rs28897672
rs28897672
BRCA1
C 0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318

2017
dbSNP: rs28897686
rs28897686
BRCA1
A 0.700 CausalMutation CLINVAR Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas. 27767231

2017
dbSNP: rs28897696
rs28897696
BRCA1
T 0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318

2017
dbSNP: rs387906563
rs387906563
BRCA1
GCCACATGGCT 0.700 CausalMutation CLINVAR Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. 28985766

2017
dbSNP: rs397509284
rs397509284
BRCA1
T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017