ArticleHuman mutation2012
Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed.
- Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.American journal of human genetics · 2025Article
- DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.PLoS genetics · 2023Article
- DNA Repair Function Scores for 2172 Variants in the BRCA1 Amino-Terminus.bioRxiv : the preprint server for biology · 2023Article
- Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.American journal of human genetics · 2022Article
- In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.Scientific reports · 2021Article
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.Cancers · 2021Article
- Reclassification ofJournal of gynecologic oncology · 2020Article
- Genetic testing in Poland and Ukraine: should comprehensive germline testing ofGenetics research · 2020Article
- Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.Oncotarget · 2019Article
- A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.PLoS genetics · 2018Article
- Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines.Journal of gastroenterology · 2018Article
- Functional Interaction BetweenFrontiers in genetics · 2018Article
- Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.The oncologist · 2017Article
- Article
- Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.Familial cancer · 2017Observational
- Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples.Oncotarget · 2016Article
- Germline mutations in Japanese familial pancreatic cancer patients.Oncotarget · 2016Article
- New challenges for BRCA testing: a view from the diagnostic laboratory.European journal of human genetics : EJHG · 2016Review
- Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Human mutation · 2016Article
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Authors and funding
9 authors.
Funding
Abstract
Unclassified sequence variants (UVs) arising from clinical mutation screening of cancer susceptibility genes present a frustrating issue to clinical genetics services and the patients that they serve. We created an open-access database holding missense substitutions from the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2. The main inclusion criterion is that each variant should have been assessed in a published work that used the Bayesian integrated evaluation of unclassified BRCA gene variants. Transfer of data on these substitutions from the original publications to our database afforded an opportunity to analyze the missense substitutions under a single model and to remove inconsistencies that arose during the evolution of the integrated evaluation over the last decade. This analysis also afforded the opportunity to reclassify these missense substitutions according to the recently published IARC 5-Class system. From an initial set of 248 missense substitutions, 31 were set aside due to nonnegligible probability to interfere with splicing. Of the remaining substitutions, 28 fell into one of the two pathogenic classes (IARC Class 4 or 5), 174 fell into one of the two nonpathogenic classes (IARC Class 1 or 2), and 15 remain in IARC Class 3, "Uncertain." The database is available at http://brca.iarc.fr/LOVD.
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