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The BRCA1 gene homepage. All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium. Variants associated with Fanconi anemia A Fanconi anemia mutation database.
The BRCA Exchange aims to advance our understanding of the genetic basis of breast, ovarian, pancreatic and other cancers by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world.
25 mar 2020 · The major databases and platforms that contain information on BRCA1 and BRCA2 variants are as follows: BRCA Exchange , ClinVar , the Human Gene Mutation Database (HGMD) , the Leiden Open Variation Database (LOVD) , the Consortium of Investigators of Modifiers of BRCA (CIMBA) , and the Evidence-based Network for the Interpretation of Germline ...
10 sty 2018 · The spectrum of BRCA1 and BRCA2 mutations in the carrier population at Norway’s largest cancer genetics clinic is diverse, and with a weaker founder effect than previously described.
3 mar 2023 · Evidence-based, expert-reviewed summary about the BRCA1 and BRCA2 genes and hereditary breast and ovarian cancer. This summary also contains information about the cancer risks associated with BRCA1/BRCA2, screening, risk-reduction, treatment, and prognosis.
12 sie 2016 · Mutation. Tumour suppressors. Abstract. BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for the repair of DNA double-strand breaks by homologous recombination...
3 maj 2024 · Overview of BRCA1 variant assessment. Subway chart illustrating the steps in data collection, curation, and harmonization of variant designation (green line). Variants were then separated according to origin as somatic (yellow line) or germline (blue line) and stratified by variant type or clinical significance. BC, breast cancer.
