Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.
HBOC
HNPCC
double mutation
incidental findings ATM
panel sequencing
predisposition to cancer
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
19
06
2020
revised:
09
10
2020
accepted:
10
10
2020
pubmed:
14
10
2020
medline:
1
10
2021
entrez:
13
10
2020
Statut:
ppublish
Résumé
High-throughput sequencing analysis represented both a medical diagnosis and technological revolution. Gene panel analysis is now routinely performed in the exploration of hereditary predisposition to cancer, which is becoming increasingly heterogeneous, both clinically and molecularly. We present 1530 patients with suspicion of hereditary predisposition to cancer, for which two types of analyses were performed: a) oriented according to the clinical presentation (n = 417), or b) extended to genes involved in hereditary predisposition to adult cancer (n = 1113). Extended panel analysis had a higher detection rate compared to oriented analysis in hereditary predisposition to breast / ovarian cancer (P < .001) and in digestive cancers (P < .094) (respectively 15% vs 5% and 19.3%, vs 12.5%). This higher detection is explained by the inclusion of moderate penetrance genes, as well as the identification of incident mutations and double mutations. Our study underscores the utility of proposing extended gene panel analysis to patients with suspicion of hereditary predisposition to adult cancer.
Identifiants
pubmed: 33047316
doi: 10.1111/cge.13864
pmc: PMC7821123
doi:
Substances chimiques
Neoplasm Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
166-175Informations de copyright
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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