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Universidade de Brasília
Use este identificador para citar ou linkar para este item: http://repositorio2.unb.br/jspui/handle/10482/45004
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dc.contributor.authorLaforest, Anais-
dc.contributor.authorAparicio, Thomas-
dc.contributor.authorZaanan, Aziz-
dc.contributor.authorPittella-Silva, Fabio-
dc.contributor.authorDidelot, Audrey-
dc.contributor.authorDesbeaux, Aurélien-
dc.contributor.authorLe Corre, Delphine-
dc.contributor.authorBenhaim, Leonor-
dc.contributor.authorPallier, Karine-
dc.contributor.authorAust, Daniela-
dc.contributor.authorPistorius, Steffen-
dc.contributor.authorBlons, Hélène-
dc.contributor.authorSvrcek, Magali-
dc.contributor.authorLaurent-Puig, Pierre-
dc.date.accessioned2022-10-06T14:03:54Z-
dc.date.available2022-10-06T14:03:54Z-
dc.date.issued2014-07-
dc.identifier.citationLAFLOREST, Anais et al. ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma. European Journal of Cancer, v. 50, n. 10, p. 1740-1746, jul. 2014. DOI: https://doi.org/10.1016/j.ejca.2014.04.007.pt_BR
dc.identifier.urihttps://repositorio.unb.br/handle/10482/45004-
dc.language.isoInglêspt_BR
dc.publisherElsevierpt_BR
dc.rightsAcesso Restritopt_BR
dc.titleERBB2 gene as a potential therapeutic target in small bowel adenocarcinomapt_BR
dc.typeArtigopt_BR
dc.subject.keywordGenespt_BR
dc.subject.keywordMutaçõespt_BR
dc.subject.keywordIntestino delgado - câncerpt_BR
dc.subject.keywordSequenciamento genômicopt_BR
dc.identifier.doihttps://doi.org/10.1016/j.ejca.2014.04.007pt_BR
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S0959804914005929?via%3Dihub#!pt_BR
dc.description.abstract1Aim of the study Small bowel adenocarcinoma (SBA) is a rare and aggressive tumour with poor outcomes. Because of its low incidence, the number prospective studies remains insufficient leading to poor knowledge and absence of standard of care. Aiming to better understand small bowel carcinogenesis we investigated the frequency of somatic mutations in a large data set of patients in more than 740 mutational hotspots among 46 genes. Methods In total, 83 SBA cases were selected from two European databases. The sequencing was performed using the Ion 316 Chip. Additionally we looked into ERBB2 expression and microsatellite instability (MSI) status. Results The tumours most frequently were duodenal (47%) and stage ⩾3 (63%). Eight genes were mutated with a frequency >5%: KRAS, TP53, APC, SMAD4, PIK3CA, ERBB2, BRAF and FBXW7. ERBB2 alterations are present in 10 patients (12%) through mutations (7 cases) or amplifications (3 cases). ERBB2 mutations were significantly associated with duodenal tumour location (P = 0.04). In this group, there was a positive association with dMMR status (P = 0.006) and APC mutation (P = 0.02) but negative association with p53 mutations (P = 0.038). Conclusions This study describes the first large screening of somatic mutations in SBA using next generation sequencing. The ERBB2 mutation was revealed to be one of the most frequent alterations in SBA with a distribution dependent on tumour location. In most cases ERBB2 mutation was identical (p.L755S). In clinical practice, this may suggest that more than 10% of the patients with SBA could be treated using an anti-ERBB2-targeted agent.pt_BR
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