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dc.contributor.authorVieira, Igor Araújopt_BR
dc.contributor.authorViola, Guilherme Danielskipt_BR
dc.contributor.authorPezzi, Eduarda Heidrichpt_BR
dc.contributor.authorKowalski, Thayne Woycinckpt_BR
dc.contributor.authorFernandes, Bruna Vieirapt_BR
dc.contributor.authorAndreis, Tiago Fingerpt_BR
dc.contributor.authorBom, Nataschapt_BR
dc.contributor.authorSonnenstrahl, Giuliannapt_BR
dc.contributor.authorRocha, Yasminne Marinho de Araújopt_BR
dc.contributor.authorCorrêa, Bruno da Silveirapt_BR
dc.contributor.authorDonatti, Luiza Mezzomopt_BR
dc.contributor.authorSant'Anna, Gabriela dos Santospt_BR
dc.contributor.authorCorleta, Helena von Eyept_BR
dc.contributor.authorBrum, Ilma Simonipt_BR
dc.contributor.authorRosset, Cléviapt_BR
dc.contributor.authorVianna, Fernanda Sales Luizpt_BR
dc.contributor.authorMacedo, Gabriel S.pt_BR
dc.contributor.authorPalmero, Edenir Inêzpt_BR
dc.contributor.authorProlla, Patrícia Ashtonpt_BR
dc.date.accessioned2024-03-21T05:05:02Zpt_BR
dc.date.issued2023pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/273952pt_BR
dc.description.abstractThe TP53 3’UTR variant rs78378222 A>C has been detected in different tumor types as a somatic alteration that reduces p53 expression through modification of polyadenylation and miRNA regulation. Its prevalence is not yet known in all tumors. Herein, we examine tumor tissue prevalence of rs7837822 in Brazilian cohorts of patients from south and southeast regions diagnosed with lung adenocarcinoma (LUAD, n=586), sarcoma (SARC, n=188) and uterine leiomyoma (ULM, n=41). The minor allele (C) was identified in heterozygosity in 6/586 LUAD tumors (prevalence = 1.02 %) and none of the SARC and ULM samples. Additionally, next generation sequencing analysis revealed that all variant-positive tumors (n=4) with sample availability had additional pathogenic or likely pathogenic somatic variants in the TP53 coding regions. Among them, 3/4 (75 %) had the same pathogenic or likely pathogenic sequence variant (allele frequency <0.05 in tumor DNA) namely c.751A>C (p.Ile251Leu). Our results indicate a low somatic prevalence of rs78378222 in LUAD, ULM and SARC tumors from Brazilian patients, which suggests that no further analysis of this variant in the specific studied regions of Brazil is warranted. However, these findings should not exclude tumor molecular testing of this TP53 3’UTR functional variant for different populations.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto, SP. Vol. 46, no. 3, suppl. 1 (2023), e20230133, 9 p.pt_BR
dc.rightsOpen Accessen
dc.subjectNeoplasiaspt_BR
dc.subjectrs78378222en
dc.subjectNon-coding varianten
dc.subjectNeoplasias uterinaspt_BR
dc.subject3’ untranslated regionen
dc.subjectAdenocarcinoma de pulmãopt_BR
dc.subjectLeiomiomapt_BR
dc.subjectTP53 geneen
dc.subjectSarcomapt_BR
dc.subjectSomatic analysesen
dc.subjectGenes p53pt_BR
dc.subjectRegiões 3' não traduzidaspt_BR
dc.titleExploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomaspt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001196081pt_BR
dc.type.originNacionalpt_BR


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