rs397507847, BRCA2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 16793542 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. 15172753 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. 15365993 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA2 germline mutations in familial pancreatic carcinoma. 12569143 2003
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098 2003
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750 2002
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. 12442274 2002
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. 11948477 2002
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA2 gene mutations in families with aggregations of breast and stomach cancers. 12373604 2002
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). 11241844 2001
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425 2001
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA2 germline mutations in male breast cancer patients in the Polish population. 11139248 2001
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. 10978364 2000
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Germline brca2 sequence variants in patients with ocular melanoma. 10399947 1999
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. 9971877 1999
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997 1998
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. 9654203 1998
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT A low proportion of BRCA2 mutations in Finnish breast cancer families. 9150152 1997