A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report

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 SOL...

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Detalles Bibliográficos
Autores principales: te Paske, Iris B. A. W., Garcia-Pelaez, José, Sommer, Anna K., Matalonga, Leslie, Starzynska, Teresa, Jakubowska, Anna, van der Post, Rachel S., Lubinski, Jan, Oliveira, Carla, Hoogerbrugge, Nicoline, de Voer, Richarda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440670/
https://www.ncbi.nlm.nih.gov/pubmed/34075207
http://dx.doi.org/10.1038/s41431-021-00853-6
Descripción
Sumario: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.

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