BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897759
rs28897759
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation BEFREE We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West Germany. 24728577 2014
dbSNP: rs28897759
rs28897759
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.810 GeneticVariation CLINVAR
dbSNP: rs28897759
rs28897759
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.810 GeneticVariation UNIPROT
dbSNP: rs4942486
rs4942486
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs4942486
rs4942486
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138 2013
dbSNP: rs4942486
rs4942486
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs4942486
rs4942486
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596 2011
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 16793542 2006
dbSNP: rs28897743
rs28897743
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.800 GeneticVariation UNIPROT Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928 2004
dbSNP: rs41293511
rs41293511
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808 2004
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926 2004
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. 15365993 2004