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BRCA Exchange. We are pleased to introduce a new feature: persistent URLs for the variants in BRCA Exchange! More information is available here on the BRCA Exchange blog. This is the BRCA Exchange Summary View. Clinical significance for variants, where denoted, is from expert review by the ENIGMA consortium.
28 feb 2018 · Introduzione. L'analisi delle mutazioni dei geni denominati BRCA1 e BRCA2 è eseguita per verificare l'esistenza di una predisposizione genetica allo sviluppo dei tumori al seno e all'ovaio. Il tumore al seno è molto frequente tra le donne e ogni anno in Italia si stima vengano diagnosticati 48.000 nuovi casi ( leggi la Bufala ).
BRCA exchange website providing curated classification and other relevant information – Database. ClinVar public archive of reports of relationships between genetic variation and phenotypes – Database. Search BRCA1 or BRCA2, and fiter Review Status (left-hand site) for Expert panel to see ENIGMA curated classifications.
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. Search for BRCA1 or BRCA2 variants above.
19 dic 2019 · Parsons MT, Tudini E, Li H, et al. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: an ENIGMA resource to support clinical variant classification.
- Hongyan Li, Holly LaDuca, Tina Pesaran, Elizabeth C. Chao, Jill S. Dolinsky, Michael Parsons, Amanda...
- 2020
ENIGMA—Evidence‐based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes - Spurdle - 2012 - Human Mutation - Wiley Online Library.
Targeted NGS Panels –Diagnostic. Resequencing of selected regions of interest (typically 1KB–1MB). Small targeted gene regions are captured (hybridization) or amplified and sequenced. Mutations of genes with clinical significance. Deeper sequencing. Low input DNA, lower cost, short TAT. Limited genomic coverage.
