rs786203663, BRCA1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Hypoxia-Activated Alkylating Agents in BRCA1-Mutant Ovarian Serous Carcinoma. 28959512 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. 25628955 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. 25628955 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity. 25748678 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. 25371446 2015
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
Hereditary Breast and Ovarian Cancer Syndrome
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
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 and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. 21614564 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. 18512148 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. 16030099 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Classification of BRCA1 missense variants of unknown clinical significance. 15689452 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502 2004
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. 15290653 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Frequency of germline and somatic BRCA1 mutations in ovarian cancer. 9796975 1998