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

Autor: te Paske, I.B.A.W., Garcia-Pelaez, J., Sommer, A.K., Matalonga, L., Starzynska, T., Jakubowska, A., Valle, L., Capella, G., Aretz, S., Holinski-Feder, E., Steinke-Lange, V., Laner, A., Schröck, E., Rump, A., Ligtenberg, M., Hoischen, A., Geverink, N., Evans, D.G., Tischkowitz, M., Laurie, S., van der Post, R.S., Lubinski, J., Oliveira, C., Hoogerbrugge, N., de Voer, R.M.
Přispěvatelé: Sommer, Anna K [0000-0001-6850-9290], Starzynska, Teresa [0000-0001-5573-2397], Jakubowska, Anna [0000-0002-5650-0501], Hoogerbrugge, Nicoline [0000-0003-2393-8141], de Voer, Richarda M [0000-0002-8222-0343], Apollo - University of Cambridge Repository
Rok vydání: 2021
Předmět:
Zdroj: European Journal of Human Genetics, 29, 1354-1358
te Paske, I B A W, Garcia-Pelaez, J, Sommer, A K, Matalonga, L, Starzynska, T, Jakubowska, A, Valle, L, Capella, G, Aretz, S, Holinski-Feder, E, Steinke-Lange, V, Laner, A, Schröck, E, Rump, A, Ligtenberg, M, Hoischen, A, Geverink, N, Evans, D G, Tischkowitz, M, Laurie, S, van der Post, R S, Lubinski, J, Oliveira, C, Hoogerbrugge, N & de Voer, R M 2021, ' A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1354-1358 . https://doi.org/10.1038/s41431-021-00853-6
European Journal of Human Genetics
European Journal of Human Genetics, 29, 9, pp. 1354-1358
ISSN: 1354-1358
1018-4813
Popis: 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. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257. The research work at i3S/Ipatimup is supported by 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. 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.
Databáze: OpenAIRE
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