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Journal of Cancer Research and Clinical Oncology

Erschienen in:

28.08.2023 | Review

Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women

verfasst von: Giovanni Corso, Giovanni Comelli, Paolo Veronesi, Beatrice Bianchi, Salvatore Petitto, Andrea Polizzi, Antonia Girardi, Antonio Cioffi, Carlo La Vecchia, Vincenzo Bagnardi, Francesca Magnoni

Erschienen in: Journal of Cancer Research and Clinical Oncology | Ausgabe 17/2023

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Abstract

Purpose

The objective of this study was to determine the male and female frequency of diffuse gastric cancer (DGC), the age at diagnosis, and the country of origin in a selected population with germline CDH1 variants from families with the hereditary diffuse gastric cancer (HDGC) syndrome.

Methods

Relevant literature dating from 1998 to 2021 was systematically searched for data on CDH1 gene. The Wilcoxon rank sum test and the Chi-square test were used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was significant.

Results

We identified 80 families fulfilling the established clinical criteria for HDGC CDH1 genetic screening. There were more women than men with DGC and germline CDH1 variant (65.5%). Stratifying the age at diagnosis, we identified an association between DGC, positive CDH1 screening and young women (≤ 40 years) (p = 0.015). The mean age at diagnosis was 39.6 ys for women and 42.5 ys for men. There was an association between CDH1 carrier status and DGC (p = 0.021).

Conclusions

Young women carrying germline CDH1 variants with DGC are comparatively frequent in the HDGC syndrome, and potentially at higher risk to develop DGC particularly in low-incidence areas for GC.

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Titel: Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women
verfasst von: Giovanni Corso
Giovanni Comelli
Paolo Veronesi
Beatrice Bianchi
Salvatore Petitto
Andrea Polizzi
Antonia Girardi
Antonio Cioffi
Carlo La Vecchia
Vincenzo Bagnardi
Francesca Magnoni
Publikationsdatum: 28.08.2023
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Cancer Research and Clinical Oncology / Ausgabe 17/2023
Print ISSN: 0171-5216
Elektronische ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-023-05318-5

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Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women