Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

Lynch syndrome MLH3 gene colorectal cancer genes custom panel in silico analysis microsatellite instability‑high status mismatch repair genes next‑generation sequencing rare variants uncertain variants

Journal

International journal of molecular medicine
ISSN: 1791-244X
Titre abrégé: Int J Mol Med
Pays: Greece
ID NLM: 9810955

Informations de publication

Date de publication:
Jun 2022
Historique:
received: 14 12 2021
accepted: 09 03 2022
entrez: 27 4 2022
pubmed: 28 4 2022
medline: 29 4 2022
Statut: ppublish

Résumé

The molecular characterization of patients with Lynch syndrome (LS) involves germline testing to detect a deleterious mutation in one of the genes of the mismatch repair (

Identifiants

pubmed: 35475445
doi: 10.3892/ijmm.2022.5137
pii: 81
pmc: PMC9083887
doi:
pii:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Raffaella Liccardo (R)

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, I‑80131 Napoli, Italy.

Matilde Lambiase (M)

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, I‑80131 Napoli, Italy.

Antonio Nolano (A)

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, I‑80131 Napoli, Italy.

Marina De Rosa (M)

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, I‑80131 Napoli, Italy.

Paola Izzo (P)

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, I‑80131 Napoli, Italy.

Francesca Duraturo (F)

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, I‑80131 Napoli, Italy.

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