ArticleNucleic acids research2012
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.
Article in Nucleic acids research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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50 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
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- Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.Frontiers in oncology · 2022Article
- Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.Frontiers in oncology · 2022Article
- Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.American journal of human genetics · 2021Article
- Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.Biomolecules · 2021Review
- 5' Region Large Genomic Rearrangements in theCancers · 2021Article
- Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.Journal of translational medicine · 2021Article
- Identification of Eleven NovelFrontiers in oncology · 2021Article
- Identification ofFrontiers in genetics · 2021Article
- Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by UsingCancer research · 2020Article
- Somatic and Germline BRCA 1 and 2 Mutations in Advanced NSCLC From the SAFIR02-Lung Trial.JTO clinical and research reports · 2020Article
- Prevalence and Spectrum ofGenes · 2020Article
- Review
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- Site-Specific DNA Demethylation as a Potential Target for Cancer Epigenetic Therapy.Epigenetics insights · 2020Review
- Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.Genome medicine · 2019Article
- Non-Journal of global oncology · 2019Article
- Germline Missense Variants inCancers · 2019Review
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Authors and funding
7 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
BRCA1 and BRCA2 are the two main genes responsible for predisposition to breast and ovarian cancers, as a result of protein-inactivating monoallelic mutations. It remains to be established whether many of the variants identified in these two genes, so-called unclassified/unknown variants (UVs), contribute to the disease phenotype or are simply neutral variants (or polymorphisms). Given the clinical importance of establishing their status, a nationwide effort to annotate these UVs was launched by laboratories belonging to the French GGC consortium (Groupe Génétique et Cancer), leading to the creation of the UMD-BRCA1/BRCA2 databases (http://www.umd.be/BRCA1/ and http://www.umd.be/BRCA2/). These databases have been endorsed by the French National Cancer Institute (INCa) and are designed to collect all variants detected in France, whether causal, neutral or UV. They differ from other BRCA databases in that they contain co-occurrence data for all variants. Using these data, the GGC French consortium has been able to classify certain UVs also contained in other databases. In this article, we report some novel UVs not contained in the BIC database and explore their impact in cancer predisposition based on a structural approach.
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