rs80357914, BRCA1;NBR2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility. 30262796 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene 28390335 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. 26543556 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. 26543556 2015
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. 24764757 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. 23233716 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country. 23788959 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. 23658460 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. 23658460 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. 22763381 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. 22763381 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier. 23086583 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. 23633455 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review. 21643751 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. 22535016 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline BRCA1 mutations increase prostate cancer risk. 22516946 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639 2012