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

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dc.contributor.author Te Paske, Iris B.A.W.
dc.contributor.author Garcia-Pelaez, José
dc.contributor.author Sommer, Anna K.
dc.contributor.author Matalonga, Leslie
dc.contributor.author Starzynska, Teresa
dc.contributor.author Jakubowska, Anna
dc.contributor.author Solve-RD-GENTURIS group
dc.contributor.author van der Post, Rachel S.
dc.contributor.author Lubinski, Jan
dc.contributor.author Oliveira, Carla
dc.contributor.author Hoogerbrugge, Nicoline
dc.contributor.author de Voer, Richarda M.
dc.date.accessioned 2021-11-19T07:04:48Z
dc.date.available 2021-11-19T07:04:48Z
dc.date.issued 2021
dc.identifier.citation Te Paske IBAW, Garcia-Pelaez J, Sommer AK, Matalonga L, Starzynska T, Jakubowska A; Solve-RD-GENTURIS group,, van der Post RS, Lubinski J, Oliveira C, Hoogerbrugge N, de Voer RM. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. Eur J Hum Genet. 2021;29(9):1354-8. DOI: 10.1038/s41431-021-00853-6
dc.identifier.issn 1018-4813
dc.identifier.uri http://hdl.handle.net/10230/49020
dc.description.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.
dc.description.sponsorship 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.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartof Eur J Hum Genet. 2021;29(9):1354-8
dc.rights © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41431-021-00853-6
dc.subject.keyword Cancer genomics
dc.subject.keyword Gastric cancer
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/825575
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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