rs786203663, BRCA1
N. diseases: 3
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 | Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. | 27272900 | 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 | |||||
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 | |||||
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 | |||||
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 | |||||
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 |