Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.
Lynch-like syndrome
biallelic somatic alteration
colorectal cancer
early-onset cancer
mismatch repair
whole-exome sequencing
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
12 Mar 2021
12 Mar 2021
Historique:
received:
28
01
2021
revised:
04
03
2021
accepted:
09
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
4
4
2021
Statut:
epublish
Résumé
Lynch-like syndrome (LLS) is an increasingly common clinical challenge with an underlying molecular basis mostly unknown. To shed light onto it, we focused on a very young LLS early-onset colorectal cancer (CRC) cohort (diagnosis ≤ 40 y.o.), performing germline and tumor whole-exome sequencing (WES) of 15 patients, and additionally analyzing their corresponding tumor mutational burden (TMB) and mutational signatures. We identified four cases (27%) with double somatic putative variants in mismatch repair (MMR) core genes, as well as three additional cases (20%) with double
Identifiants
pubmed: 33809179
pii: cancers13061259
doi: 10.3390/cancers13061259
pmc: PMC7999079
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Fondation Nelia et Amadeo Barletta
ID : Antelo-2017
Organisme : Agència de Gestió d'Ajuts Universitaris i de Recerca
ID : 2019FI_B2_00203
Organisme : Fondo de Investigación Sanitaria/FEDER
ID : 17/00878, 20/00113
Organisme : Centres de Recerca de Catalunya
ID : GRPRE 2017SGR21, GRC 2017SGR653
Organisme : European Cooperation in Science and Technology
ID : COST Action CA17118
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