Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis

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TitreMutational Profile of Metastatic Breast Cancers: A Retrospective Analysis
Type de publicationJournal Article
Year of Publication2016
AuteursLefebvre C, Bachelot T, Filleron T, Pedrero M, Campone M, Soria J-C, Massard C, Levy C, Arnedos M, Lacroix-Triki M, Garrabey J, Boursin Y, Deloger M, Fu Y, Commo F, Scott V, Lacroix L, Dieci MVittoria, Kamal M, Dieras V, Goncalves A, Ferrerro J-M, Romieu G, Vanlemmens L, Reynier M-AMouret, Thery J-C, Le Du F, Guiu S, Dalenc F, Clapisson G, Bonnefoi H, Jimenez M, Le Tourneau C, Andre F
JournalPLOS MEDICINE
Volume13
Paginatione1002201
Date PublishedDEC
Type of ArticleArticle
ISSN1549-1676
Résumé

{Background Major advances have been achieved in the characterization of early breast cancer (eBC) genomic profiles. Metastatic breast cancer (mBC) is associated with poor outcomes, yet limited information is available on the genomic profile of this disease. This study aims to decipher mutational profiles of mBC using next-generation sequencing. Methods and Findings Whole-exome sequencing was performed on 216 tumor-blood pairs from mBC patients who underwent a biopsy in the context of the SAFIR01, SAFIR02, SHIVA, or Molecular Screening for Cancer Treatment Optimization (MOSCATO) prospective trials. Mutational profiles from 772 primary breast tumors from The Cancer Genome Atlas (TCGA) were used as a reference for comparing primary and mBC mutational profiles. Twelve genes (TP53, PIK3CA, GATA3, ESR1, MAP3K1, CDH1, AKT1, MAP2K4, RB1, PTEN, CBFB, and CDKN2A) were identified as significantly mutated in mBC (false discovery rate [FDR] < 0.1). Eight genes (ESR1, FSIP2, FRAS1, OSBPL3, EDC4, PALB2, IGFN1, and AGRN) were more frequently mutated in mBC as compared to eBC (FDR < 0.01). ESR1 was identified both as a driver and as a metastatic gene (n = 22, odds ratio = 29, 95% CI [9-155]
DOI10.1371/journal.pmed.1002201