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BRCA1/2pathogenic variants are not common in Merkel cell carcinoma: Comprehensive molecular study of 30 cases and meta-analysis of the literature

Authors :
Gaubert, Alexandre
Kervarrec, Thibault
Montaudié, Henri
Burel-Vandenbos, Fanny
Cardot-Leccia, Nathalie
Di Mauro, Ilaria
Fabas, Thibault
Tallet, Anne
Kubiniek, Valérie
Pedeutour, Florence
Dadone-Montaudié, Bérengère
Source :
Journal of Investigative Dermatology; 20230101, Issue: Preprints
Publication Year :
2023

Abstract

Merkel cell carcinoma (MCC) is a rare and aggressive cutaneous neuroendocrine cancer. Management of advanced MCC is mainly based on immune-checkpoint inhibitors (ICI). The high failure rate warrants investigation of new therapeutic targets. The recent identification of BRCA1or BRCA2 (BRCA1/2)mutations in some MCC raises the issue of the use of poly-(ADP-Ribose)-polymerase inhibitors (PARPi) in selected advanced cases.

Details

Language :
English
ISSN :
0022202X and 15231747
Issue :
Preprints
Database :
Supplemental Index
Journal :
Journal of Investigative Dermatology
Publication Type :
Periodical
Accession number :
ejs62195297
Full Text :
https://doi.org/10.1016/j.jid.2023.01.014