Details

Autor(en) / Beteiligte

• Delmonico, Lucas
• Costa, Maurício Augusto Silva Magalhães
• Fournier, Marcia Vasconcellos
• Romano, Sérgio de Oliveira
• Nascimento, Cristina Moreira do
• Barbosa, Andréia Soares
• Moreira, Aline dos Santos
• Scherrer, Luciano Rios
• Ornellas, Maria Helena Faria
• Alves, Gilda

Titel

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

Ist Teil von

• Annals of diagnostic pathology, 2019-04, Vol.39, p.30-35

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2019

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Breast 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. •This is the first Brazilian study analyzing circulating free DNA (cfDNA) and tumor.•The cfDNA offers a valuable opportunity for early tumor detection.•Mutations found in tumor may be coincident with those found in cfDNA.•The cfDNA may represent the phenotype and risk of tumor metastasis.