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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.
View all sequence variants of a certain type. Simple search. Query the database by selecting the most important variables (exon number, type of variant, disease phenotype) Advanced search. Query the database by selecting a combination of variables. Based on patient origin.
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these genes have been identified, some of which have been determined to be harmful, while others have no proven impact.
25 mar 2020 · The main purpose of this review is to summarize the molecular biology associated with the representative cancer predisposition genes, BRCA1 and BRCA2, and to speculate on the missing link between normal and cancer cells.
10 sty 2018 · Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 68% of BRCA1 mutation carriers at the time. After 15 more years of genetic testing, updated knowledge on the mutation spectrum of both BRCA1 and BRCA2 in Norway is needed.
12 wrz 2018 · Abstract. Variants of uncertain significance fundamentally limit the clinical utility of genetic information. The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which...
