rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.
|
26733283 |
2016 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
|
29339979 |
2018 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
|
23108138 |
2013 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.
|
16115142 |
2005 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.
|
17100994 |
2006 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
|
21719596 |
2011 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
|
20104584 |
2010 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
|
21520273 |
2011 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
BRCA2 mutations and triple-negative breast cancer.
|
22666503 |
2012 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
|
25085752 |
2014 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
|
26187060 |
2016 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.
|
21203900 |
2011 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.
|
25146914 |
2014 |
rs80359013
|
|
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 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
|
21138478 |
2011 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.
|
15070707 |
2004 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
|
17924331 |
2007 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.
|
22970155 |
2012 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The functional impact of variants of uncertain significance in BRCA2.
|
29988080 |
2019 |
rs80359013
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.
|
21218378 |
2010 |