Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers

Autor: Nancy Uhrhammer, Mathilde Gay-Bellile, Mathis Lepage, Sandrine Viala, Yves-Jean Bignon, Flora Ponelle-Chachuat, Yannick Bidet, Mathias Cavaillé, Maud Privat
Přispěvatelé: Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, COLO, Mouniati
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Adult
Male
0301 basic medicine
Oncology
medicine.medical_specialty
[SDV]Life Sciences [q-bio]
HNPCC
Breast Neoplasms
[SDV.CAN]Life Sciences [q-bio]/Cancer
030105 genetics & heredity
Digestive System Neoplasms
Double mutation
03 medical and health sciences
[SDV.CAN] Life Sciences [q-bio]/Cancer
Gene panel
Internal medicine
Genetics
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Digestive cancer
Germ-Line Mutation
Genetics (clinical)
ComputingMilieux_MISCELLANEOUS
Ovarian Neoplasms
double mutation
panel sequencing
HBOC
business.industry
High-Throughput Nucleotide Sequencing
Cancer
Original Articles
Middle Aged
medicine.disease
Penetrance
Neoplasm Proteins
Pedigree
incidental findings ATM
3. Good health
predisposition to cancer
[SDV] Life Sciences [q-bio]
030104 developmental biology
Female
Original Article
Detection rate
business
Ovarian cancer
Zdroj: Clinical Genetics
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13864⟩
ISSN: 0009-9163
1399-0004
DOI: 10.1111/cge.13864⟩
Popis: 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 1,530 patients with suspicion of hereditary predisposition to cancer, for which 2 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 = 1,113). Extended panel analysis had a higher detection rate compared to oriented analysis in hereditary predisposition to breast / ovarian cancer (p < 0.001) and in digestive cancers (p < 0.094) (respectively 15 % versus 5 % and 19.3 %, versus 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. This article is protected by copyright. All rights reserved.
Databáze: OpenAIRE
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