BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

BRCA1 and BRCA2 (BRCA1/2) germline variants disrupting the DNA protective role of these genes increase the risk of hereditary breast and ovarian cancers. Correct identification of these variants then becomes clinically relevant, because it may increase the survival rates of the carriers. Unfortunate...

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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: Padilla, Natàlia, Moles-Fernández, Alejandro, Riera, Casandra, Montalban, Gemma, Özkan, Selen, Ootes, Lars, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, de la Cruz, Xavier
Format: Artigo
Jezik:Inglês
Izdano: 2019
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744361/
https://ncbi.nlm.nih.gov/pubmed/31112341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23802
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