BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant neoplasm of breast ×
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: 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: 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: 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: 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
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. 15172753 2004
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 germline mutations in familial pancreatic carcinoma. 12569143 2003
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098 2003
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 gene mutations in families with aggregations of breast and stomach cancers. 12373604 2002
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. 11948477 2002
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. 12442274 2002
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750 2002
dbSNP: rs45580035
rs45580035
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.800 GeneticVariation UNIPROT An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). 11241844 2001