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Calvello, Mariarosaria; Marabelli, Monica; Gandini, Sara; Marino, Elena; Bernard, Loris; Dal Molin, Matteo; Di Cola, Giulia; Zanzottera, Cristina; Corso, Giovanni; Fazio, Nicola; Gervaso, Lorenzo; Fumagalli Romario, Uberto; Barberis, Massimo; Guerrieri-Gonzaga, Aliana; Bertario, Lucio; Serrano, Davide; Bonanni, Bernardo

Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience

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  • Medientyp: E-Artikel
  • Titel: Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience
  • Beteiligte: Calvello, Mariarosaria; Marabelli, Monica; Gandini, Sara; Marino, Elena; Bernard, Loris; Dal Molin, Matteo; Di Cola, Giulia; Zanzottera, Cristina; Corso, Giovanni; Fazio, Nicola; Gervaso, Lorenzo; Fumagalli Romario, Uberto; Barberis, Massimo; Guerrieri-Gonzaga, Aliana; Bertario, Lucio; Serrano, Davide; Bonanni, Bernardo
  • Erschienen: MDPI AG, 2023
  • Erschienen in: Genes
  • Sprache: Englisch
  • DOI: 10.3390/genes14051077
  • ISSN: 2073-4425
  • Schlagwörter: Genetics (clinical) ; Genetics
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:p>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.</jats:p>
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