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Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience
- Source :
- Genes, Vol 14, Iss 5, p 1077 (2023)
- Publication Year :
- 2023
- Publisher :
- MDPI AG, 2023.
-
Abstract
- Gastric cancer (GC) has long been a ‘Cinderella’ among hereditary cancers. Until recently, single-gene testing (SGT) was the only approach to identify high-risk individuals. With the spread of multigene panel testing (MGPT), a debate arose on the involvement of other genes, particularly those pertaining to homologous recombination (HR) repair. We report our mono-institutional experience in genetic counseling and SGT for 54 GC patients, with the detection of nine pathogenic variants (PVs) (9/54:16.7%). Seven out of fifty (14%) patients who underwent SGT for unknown mutations were carriers of a PV in CDH1 (n = 3), BRCA2 (n = 2), BRCA1 (n = 1), and MSH2 (n = 1), while one patient (2%) carried two variants of unknown significance (VUSs). CDH1 and MSH2 emerged as genes involved in early-onset diffuse and later-onset intestinal GCs, respectively. We additionally conducted MGPT on 37 patients, identifying five PVs (13.5%), including three (3/5:60%) in an HR gene (BRCA2, ATM, RAD51D) and at least one VUS in 13 patients (35.1%). Comparing PV carriers and non-carriers, we observed a statistically significant difference in PVs between patients with and without family history of GC (p-value: 0.045) or Lynch-related tumors (p-value: 0.036). Genetic counseling remains central to GC risk assessment. MGPT appeared advantageous in patients with unspecific phenotypes, although it led to challenging results.
- Subjects :
- gastric cancer
multigene panel testing
BRCA1
BRCA2
CDH1
MSH2
Genetics
QH426-470
Subjects
Details
- Language :
- English
- ISSN :
- 20734425
- Volume :
- 14
- Issue :
- 5
- Database :
- Directory of Open Access Journals
- Journal :
- Genes
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.965b5f8bb1e34316bb7486aee4323bc3
- Document Type :
- article
- Full Text :
- https://doi.org/10.3390/genes14051077