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Frequency of CDH1, CTNNA1 and CTNND1 germline variants in families with diffuse and mixed gastric cancer

2023-08-29Journal article Open access
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dc.contributor.authorGuerra, Joana
dc.contributor.authorPinto, Carla
dc.contributor.authorPinto, Pedro
dc.contributor.authorPinheiro, Manuela
dc.contributor.authorSantos, Catarina
dc.contributor.authorPeixoto, Ana
dc.contributor.authorEscudeiro, Carla
dc.contributor.authorBarbosa, Ana
dc.contributor.authorPorto, Miguel
dc.contributor.authorFrancisco, Inês
dc.contributor.authorLopes, Paula
dc.contributor.authorIsidoro, Ana Raquel
dc.contributor.authorCunha, Ana Luísa
dc.contributor.authorAlbuquerque, Cristina
dc.contributor.authorClaro, Isabel
dc.contributor.authorOliveira, Carla
dc.contributor.authorSilva, João
dc.contributor.authorTeixeira, Manuel R.
dc.date.accessioned2024-03-18T09:37:36Z
dc.date.available2024-03-18T09:37:36Z
dc.date.issued2023-08-29
dc.description.abstractHereditary diffuse gastric cancer (HDGC) is caused by germline pathogenic variants in the CDH1 and CTNNA1 genes and is characterized by a high prevalence of diffuse gastric cancer and lobular breast cancer. We aimed to evaluate the contribution of CTNNA1 and CTNND1 germline variants to HDGC, as well as to compare the frequencies of CDH1 and CTNNA1 (and eventually CTNND1) germline variants between patients with diffuse and mixed gastric carcinomas. In this study, we report a deleterious CTNNA1 germline variant and four CDH1 pathogenic variants in patients with criteria for genetic testing. None of the cases with mixed gastric cancer carried pathogenic variants in either the CDH1 or the CTNNA1 genes, so there is no evidence to use this tumor type in testing criteria.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGuerra, J., Pinto, C., Pinto, P., Pinheiro, M., Santos, C., Peixoto, A., Escudeiro, C., Barbosa, A., Porto, M., Francisco, I., Lopes, P., Isidoro, A. R., Cunha, A. L., Albuquerque, C., Claro, I., Oliveira, C., Silva, J., & Teixeira, M. R. (2023). Frequency of CDH1, CTNNA1 and CTNND1 germline variants in families with diffuse and mixed gastric cancer. Cancers, 15(17), Artigo 17. https://doi.org/10.3390/cancers15174313pt_PT
dc.identifier.doi10.3390/cancers15174313pt_PT
dc.identifier.eissn2072-6694
dc.identifier.urihttp://hdl.handle.net/10400.22/25179
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationJoana Guerra is a research fellow of the Fundação para a Ciência e Tecnologia (SFRH/BD/138670/2018). Manuela Pinheiro and Miguel Porto are funded by the project “P.CCC: Centro Compreensivo de Cancro do Porto”–NORTE-01-0145-FEDER-072678, supported by the Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF).pt_PT
dc.relation.publisherversionhttps://doi.org/10.3390/cancers15174313pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectHereditary diffuse gastric cancerpt_PT
dc.subjectMixed gastric cancerpt_PT
dc.subjectCDH1 genept_PT
dc.subjectCTNNA1 genept_PT
dc.subjectCTNND1 genept_PT
dc.titleFrequency of CDH1, CTNNA1 and CTNND1 germline variants in families with diffuse and mixed gastric cancerpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage10pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleCancerspt_PT
oaire.citation.volume15(17)pt_PT
person.familyNamePinto
person.givenNameCarla
person.identifier.ciencia-id271F-E46E-86E8
person.identifier.orcid0000-0001-8689-3388
person.identifier.scopus-author-id14523165700
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication37633e9b-e29c-4b27-b67f-b593aecd7b77
relation.isAuthorOfPublication.latestForDiscovery37633e9b-e29c-4b27-b67f-b593aecd7b77

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