rs397507954, BRCA2
N. diseases: 3
Source: CLINVAR ×
| 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 classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | 28339459 | 2017 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. | 26757417 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. | 27157322 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | 27741520 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. | 24249303 | 2015 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. | 25802882 | 2015 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). | 23683081 | 2013 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
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 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. | 18424508 | 2008 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. | 16489001 | 2006 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
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 | BRCA2 T2722R is a deleterious allele that causes exon skipping. | 12145750 | 2002 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | GeneticVariation | CLINVAR |