Germline genomic profiling of patients with early-onset colorectal cancer

While most EO-CRC cases are sporadic, approximately one-fifth arises within the context of hereditary cancer predisposition syndromes. As <i>FLCN</i> and <i>SDH</i> are not currently included in the current guidelines for EO-CRC, PVs/LPVs in these genes may be underestimated. To better understand their significance, we recommend including their assessment in all patients with EO-CRC.

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Publication Details

Journal
ESMO Gastrointestinal Oncology
Published
2025-05-27
DOI
https://doi.org/10.1016/j.esmogo.2025.100182
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

Germline genomic profiling of patients with early-onset colorectal cancer

Silvia Ghezzi, Laura Monti, Monica Ronzoni, Gianluca Mauri et al.
ESMO Gastrointestinal Oncology
Genetic factors in colorectal cancer
article

Germline genomic profiling of patients with early-onset colorectal cancer

Silvia Ghezzi, Laura Monti, Monica Ronzoni, Gianluca Mauri, Andrea Sartore‐Bianchi, Salvatore Siena, Roberto Rosati, F. Gaudioso, Valentina Burgio, Alessandro Mannucci, Lorena Mosca, S. Mariano, H. Mittal, Ugo Cavallari, Marta Puzzono, G.M. Cavestro
article en

Abstract

While most EO-CRC cases are sporadic, approximately one-fifth arises within the context of hereditary cancer predisposition syndromes. As <i>FLCN</i> and <i>SDH</i> are not currently included in the current guidelines for EO-CRC, PVs/LPVs in these genes may be underestimated. To better understand their significance, we recommend including their assessment in all patients with EO-CRC.

ESMO Gastrointestinal OncologyVol. 8
Vita-Salute San Raffaele University (IT), University of Milan (IT), Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Amgen, Seagen, Associazione Italiana per la Ricerca sul Cancro, Regione Lombardia
Good health and well-being
Openalex Percentile: Top 83%
Genetic factors in colorectal cancer
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Germline genomic profiling of patients with early-onset colorectal cancer — Silvia Ghezzi, Laura Monti, et al. · ESMO Gastrointestinal Oncology (2025) | TGRS Research Map | TGRS