Pan-Cancer Analysis of Mutation Hotspots in Protein Domains.

Détails

ID Serval
serval:BIB_5AA6AA824635
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Pan-Cancer Analysis of Mutation Hotspots in Protein Domains.
Périodique
Cell systems
Auteur(s)
Miller M.L., Reznik E., Gauthier N.P., Aksoy B.A., Korkut A., Gao J., Ciriello G., Schultz N., Sander C.
ISSN
2405-4712 (Print)
ISSN-L
2405-4712
Statut éditorial
Publié
Date de publication
23/09/2015
Peer-reviewed
Oui
Volume
1
Numéro
3
Pages
197-209
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
In cancer genomics, recurrence of mutations in independent tumor samples is a strong indicator of functional impact. However, rare functional mutations can escape detection by recurrence analysis owing to lack of statistical power. We enhance statistical power by extending the notion of recurrence of mutations from single genes to gene families that share homologous protein domains. Domain mutation analysis also sharpens the functional interpretation of the impact of mutations, as domains more succinctly embody function than entire genes. By mapping mutations in 22 different tumor types to equivalent positions in multiple sequence alignments of domains, we confirm well-known functional mutation hotspots, identify uncharacterized rare variants in one gene that are equivalent to well-characterized mutations in another gene, detect previously unknown mutation hotspots, and provide hypotheses about molecular mechanisms and downstream effects of domain mutations. With the rapid expansion of cancer genomics projects, protein domain hotspot analysis will likely provide many more leads linking mutations in proteins to the cancer phenotype.
Pubmed
Web of science
Open Access
Oui
Création de la notice
06/07/2018 11:02
Dernière modification de la notice
20/08/2019 14:13
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