BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967 2019
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		A 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967 2019
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 28176296 2017
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723 2013
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 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: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045 2012
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. 21735045 2012
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541 2010
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 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: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 in Indian breast cancer patients. 12442273 2002
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. 8533757 1995
dbSNP: rs80358042
rs80358042
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 CausalMutation CLINVAR