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Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome

2023-08-31Journal article Open access
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dc.contributor.authorPinto, Carla
dc.contributor.authorGuerra, Joana
dc.contributor.authorPinheiro, Manuela
dc.contributor.authorEscudeiro, Carla
dc.contributor.authorSantos, Catarina
dc.contributor.authorPinto, Pedro
dc.contributor.authorPorto, Miguel
dc.contributor.authorBartosch, Carla
dc.contributor.authorSilva, João
dc.contributor.authorPeixoto, Ana
dc.contributor.authorTeixeira, Manuel R.
dc.date.accessioned2024-07-08T08:46:27Z
dc.date.available2024-07-08T08:46:27Z
dc.date.issued2023-08-31
dc.description.abstractNTHL1 tumor syndrome is an autosomal recessive rare disease caused by biallelic inactivating variants in the NTHL1 gene and which presents a broad tumor spectrum. To contribute to the characterization of the phenotype of this syndrome, we studied 467 index patients by KASP assay or next-generation sequencing, including 228 patients with colorectal polyposis and 239 patients with familial/personal history of multiple tumors (excluding multiple breast/ovarian/polyposis). Three NTHL1 tumor syndrome families were identified in the group of patients with polyposis and none in patients with familial/personal history of multiple tumors. Altogether, we identified nine affected patients with polyposis (two of them diagnosed after initiating colorectal cancer surveillance) with biallelic pathogenic or likely pathogenic NTHL1 variants, as well as two index patients with one pathogenic or likely pathogenic NTHL1 variant in concomitance with a missense variant of uncertain significance. Here we identified a novel inframe deletion classified as likely pathogenic using the ACMG criteria, supported also by tumor mutational signature analysis. Our findings indicate that the NTHL1 tumor syndrome is a multi-tumor syndrome strongly associated with polyposis and not with multiple tumors without polyposis.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPinto, C., Guerra, J., Pinheiro, M., Escudeiro, C., Santos, C., Pinto, P., Porto, M., Bartosch, C., Silva, J., Peixoto, A., & Teixeira, M. R. (2023). Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome. Frontiers in Genetics, 14. https://doi.org/10.3389/fgene.2023.1254908pt_PT
dc.identifier.doi10.3389/fgene.2023.1254908pt_PT
dc.identifier.eissn1664-8021
dc.identifier.urihttp://hdl.handle.net/10400.22/25740
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontierspt_PT
dc.relationJG is a research fellow of the Fundação para a Ciência e Tecnologia (SFRH/BD/138670/2018). MaP and MiP are funded by the project “P.CCC: Centro Compreensivo de Cancro do Porto”—NORTE-01-0145-FEDER-072678, supported by 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://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1254908/fullpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectNTHL1pt_PT
dc.subjectPolyposispt_PT
dc.subjectColorectal cancerpt_PT
dc.subjectMulti-tumor syndromept_PT
dc.subjectRecessive disorderpt_PT
dc.titleCombined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndromept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage8pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleFrontiers in Geneticspt_PT
oaire.citation.volume14pt_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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