A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
te Paske, Iris B. A. W.
van der Post, Rachel S.
Evans, D. Gareth
European Journal of Human Genetics
Springer International Publishing
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te Paske, I. B. A. W., Garcia-Pelaez, J., Sommer, A. K., Matalonga, L., Starzynska, T., Jakubowska, A., van der Post, R. S., et al. (2021). A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. European Journal of Human Genetics, 29 (9), 1354-1358. https://doi.org/10.1038/s41431-021-00853-6
Funder: Data was reanalysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies.
Funder: the European Regional Development Fund (ERDF) through COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020, and by Portuguese funds through FCT/ Ministério da Ciência, Tecnologia e Inovação in the framework of the project "Institute for Research and Innovation in Health Sciences" (POCI-01-0145-FEDER-007274) and Project Ref. POCI-01-0145-FEDER-030164
Abstract: 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.
Brief Communication, /631/208/69, /631/67/1504/1829, brief-communication
EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) (779257, 779257)
External DOI: https://doi.org/10.1038/s41431-021-00853-6
This record's URL: https://www.repository.cam.ac.uk/handle/1810/328084