Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.
BRCA1
BRCA2
CDH1
MSH2
gastric cancer
hereditary diffuse gastric cancer syndrome
homologous recombination DNA repair genes
multigene panel testing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
13 05 2023
13 05 2023
Historique:
received:
14
04
2023
revised:
05
05
2023
accepted:
11
05
2023
medline:
29
5
2023
pubmed:
27
5
2023
entrez:
27
5
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 37239438
pii: genes14051077
doi: 10.3390/genes14051077
pmc: PMC10218517
pii:
doi:
Substances chimiques
MutS Homolog 2 Protein
EC 3.6.1.3
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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