rs80359671, BRCA2

N. diseases: 4
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477 2015
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055 2014
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts. 19478387 2009
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prostate cancer progression and survival in BRCA2 mutation carriers. 17565157 2007
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000. 16418514 2006
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The Icelandic founder mutation BRCA2 999del5: analysis of expression. 15217494 2004
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer. 10807692 2000
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. 9643283 1998
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High incidence of loss of heterozygosity in breast tumors from carriers of the BRCA2 999del5 mutation. 9766673 1998
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Study of a single BRCA2 mutation with high carrier frequency in a small population. 9150155 1997
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. 8706004 1996
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. 8589730 1996
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. 8673089 1996