Mutation profiling in the PIK3CA, TP53, and CDKN2A genes in circulating free DNA and impalpable breast lesions

dc.creatorDelmonico, Lucas
dc.creatorCosta, Maurício Augusto Silva Magalhães
dc.creatorFournier, Marcia Vasconcellos
dc.creatorRomano, Sérgio de Oliveira
dc.creatorNascimento, Cristina Moreira do
dc.creatorBarbosa, Andréia Soares
dc.creatorMoreira, Aline dos Santos
dc.creatorScherrer, Luciano Rios
dc.creatorOrnellas, Maria Helena Faria
dc.creatorAlves, Gilda
dc.date2019-09-17T10:48:44Z
dc.date2019-09-17T10:48:44Z
dc.date2019
dc.date.accessioned2023-09-26T23:23:36Z
dc.date.available2023-09-26T23:23:36Z
dc.identifierDELMONICO, Lucas et al. Mutation profiling in the PIK3CA, TP53, and CDKN2A genes in circulating free DNA and impalpable breast lesions. Annals of Diagnostic Pathology, v. 39, p. 30-35, 2019.
dc.identifier1092-9134
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/35619
dc.identifier10.1016/j.anndiagpath.2018.12.008
dc.identifier1532-8198
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8890085
dc.descriptionBreast impalpable lesions have become a clinical dilemma because they are small, presenting a heterogeneous cellular phenotype. The aim of this study was to evaluate the mutational profile of the PIK3CA, TP53, and CDKN2A genes, comparing the mammary tissue with the respective circulating free DNA (cfDNA). The PIK3CA, TP53, and CDKN2A genes were sequenced (PCR-Sanger) in 58 women with impalpable lesions (49 malignant and 9 benign) with the respective cfDNA. The chi-square or Fisher's exact test was used to evaluate statistical significance between the clinical variables and mutational profile. A total of 51 out of 58 samples generated successful mutation profiles in both breast lesion and cfDNA. Of the 37 mutations detected, 10 (27%) and 16 (43%) mutations were detected in benign and malignant breast lesions, respectively, while 2 (5%) and 9 (24%) were found in cfDNA of women with benign and malignant lesions, respectively. The lymph node involvement with mutations in the PIK3CA in malignant lesions (P = 0.001), and the relationship between mutations in PIK3CA, comparing ductal tumors with benign lesions (P = 0.05), were statistically significant. This study detected different mutations in PIK3CA, TP53, and CDKN2A genes, which represent, in part, the heterogeneity of impalpable lesions. The results confirm that more studies should be conducted on the functional role of cfDNA in the impalpable lesions.
dc.description2025-01-01
dc.formatapplication/pdf
dc.languageeng
dc.publisherElsevier 12 Months
dc.rightsrestricted access
dc.subjectLesões mamárias impalpáveis
dc.subjectcfDNA
dc.subjectPIK3CA
dc.subjectTP53
dc.subjectCDKN2A
dc.subjectImpalpable breast lesions
dc.subjectcfDNA
dc.subjectPIK3CA
dc.subjectTP53
dc.subjectCDKN2A
dc.titleMutation profiling in the PIK3CA, TP53, and CDKN2A genes in circulating free DNA and impalpable breast lesions
dc.typeArticle


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