Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength

Daniele Fanale; Lidia Rita Corsini; Chiara Brando; Alessandra Dimino; Clarissa Filorizzo; Luigi Magrin; Roberta Sciacchitano; Alessia Fiorino; Tancredi Didier Bazan Russo; Valentina Calò; Juan Lucio Iovanna; Edoardo Francini; Antonio Russo; Viviana Bazan

doi:10.3389/fonc.2022.827822

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Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength

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Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength

Daniele Fanale, Lidia Rita Corsini, Chiara Brando, Alessandra Dimino, Clarissa Filorizzo, Luigi Magrin, Roberta Sciacchitano, Alessia Fiorino, Tancredi Didier Bazan Russo, Valentina Calò, …

Frontiers in oncology, Vol.12, p.827822

02/09/2022

DOI: 10.3389/fonc.2022.827822

PMID: 35223509

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Abstract

Lynch syndrome (LS) is an inherited genetic condition associated with increased predisposition to colorectal cancer (CRC) and other tumors and is caused by germline mutations in Mismatch Repair (MMR) or EPCAM genes. The identification of LS carriers is currently based on germline testing of subjects with MMR-deficient (dMMR) tumors or fulfilling clinical criteria, but the most efficient strategies to select patients who should be offered genetic testing are yet not well defined. In order to assess the most suitable selection mode to identify LS-related CRC patients, we retrospectively collected and analyzed all clinical and molecular information of 854 CRC patients, recruited from 2013 to 2021 at the University Hospital Policlinico “P. Giaccone” of Palermo (Italy), 100 of which were selected based on revised Bethesda guidelines, Amsterdam criteria II, or tissue MMR deficiency, and genetically tested for germline variants in LS-susceptibility genes. Our study showed that 32 out of 100 CRC patients harbored germline likely pathogenic/pathogenic variants in MMR genes. The analysis of tissue microsatellite instability (MSI) status according to the revised Bethesda guidelines has been to be the best selection approach. However, using different selection approaches as complementary strategies is useful to identify LS carriers, reducing underdiagnosis of this syndrome.

Oncology

Details

Title: Subtitle: Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength
Creators: Daniele Fanale - University of Palermo
Lidia Rita Corsini - University of Palermo
Chiara Brando - University of Palermo
Alessandra Dimino - University of Palermo
Clarissa Filorizzo - University of Palermo
Luigi Magrin - University of Palermo
Roberta Sciacchitano - University of Palermo
Alessia Fiorino - University of Palermo
Tancredi Didier Bazan Russo - , , , , , , , ,
Valentina Calò - University of Palermo
Juan Lucio Iovanna - Centre National de la Recherche Scientifique
Edoardo Francini - University of Florence
Antonio Russo - University of Palermo
Viviana Bazan - University of Palermo
Resource Type: Journal article
Publication Details: Frontiers in oncology, Vol.12, p.827822
DOI: 10.3389/fonc.2022.827822
PMID: 35223509
ISSN: 2234-943X
eISSN: 2234-943X
Publisher: Frontiers Media S.A
Language: English
Date published: 02/09/2022
Academic Unit: Internal Medicine
Record Identifier: 9985221145602771

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