A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
received:
12
10
2020
accepted:
26
02
2021
revised:
16
02
2021
pubmed:
3
6
2021
medline:
24
3
2022
entrez:
2
6
2021
Statut:
ppublish
Résumé
Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing genes. Under the collaborative environment of the SOLVE-RD consortium, re-analysis of whole-exome sequencing data from unresolved gastric cancer cases (n = 83) identified a mosaic missense variant in PIK3CA in a 25-year-old female with diffuse gastric cancer (DGC) without familial history for cancer. The variant, c.3140A>G p.(His1047Arg), a known cancer-related somatic hotspot, was present at a low variant allele frequency (18%) in leukocyte-derived DNA. Somatic variants in PIK3CA are usually associated with overgrowth, a phenotype that was not observed in this patient. This report highlights mosaicism as a potential, and understudied, mechanism in the etiology of DGC.
Identifiants
pubmed: 34075207
doi: 10.1038/s41431-021-00853-6
pii: 10.1038/s41431-021-00853-6
pmc: PMC8440670
doi:
Substances chimiques
Class I Phosphatidylinositol 3-Kinases
EC 2.7.1.137
PIK3CA protein, human
EC 2.7.1.137
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1354-1358Investigateurs
Laura Valle
(L)
Gabriel Capella
(G)
Stefan Aretz
(S)
Elke Holinski-Feder
(E)
Verena Steinke-Lange
(V)
Andreas Laner
(A)
Evelin Schröck
(E)
Andreas Rump
(A)
Marjolijn Ligtenberg
(M)
Alexander Hoischen
(A)
Nicoline Geverink
(N)
D Gareth Evans
(DG)
Marc Tischkowitz
(M)
Steven Laurie
(S)
Informations de copyright
© 2021. The Author(s).
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