rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
|
31131967 |
2019 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
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 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of BRCA12 mutational status among German and Austrian women with triple-negative breast cancer.
|
25971625 |
2015 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
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 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
|
24285858 |
2014 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
|
24667779 |
2014 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
|
23479189 |
2013 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
|
23479189 |
2013 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
|
21735045 |
2012 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
|
23164213 |
2012 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
|
21523855 |
2011 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience.
|
21348412 |
2010 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
|
19563646 |
2009 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.
|
18627636 |
2008 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.
|
18627636 |
2008 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
|
16683254 |
2006 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
|
16683254 |
2006 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.
|
11802209 |
2002 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.
|
11802209 |
2002 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
|
9760198 |
1998 |
rs80358163
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Implications of a novel cryptic splice site in the BRCA1 gene.
|
9805131 |
1998 |
rs80358163
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Implications of a novel cryptic splice site in the BRCA1 gene.
|
9805131 |
1998 |
rs80358163
|
|
ovarian neoplasm
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs80358163
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|