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Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Mutation profiling in the PIK3CA, TP53, and CDKN2A genes in circulating free DNA and impalpable breast lesions

Lucas Delmonico1, Maurício Augusto Silva Magalhães Costa2, Marcia Vasconcellos Fournier3

  • 1Circulating Biomarkers Laboratory, Faculty of Medical Sciences, Rio de Janeiro State University, Rio de Janeiro 20550-170, Brazil; Graduate Program in Medical Sciences, Rio de Janeiro State University, Rio de Janeiro 20550-170, Brazil.

Annals of Diagnostic Pathology
|January 12, 2019
PubMed

Insights

This study analyzed mutations in PIK3CA, TP53, and CDKN2A genes in impalpable breast lesions and circulating free DNA (cfDNA). Results show distinct mutation profiles, highlighting cfDNA

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Impalpable breast lesions present diagnostic challenges due to their small size and cellular heterogeneity.
  • Understanding the genetic landscape of these lesions is crucial for accurate diagnosis and treatment.

Purpose of the Study:

  • To evaluate the mutational profile of PIK3CA, TP53, and CDKN2A genes in impalpable breast lesions.
  • To compare the mutational status between tumor tissue and circulating free DNA (cfDNA).

Main Methods:

  • Sequencing of PIK3CA, TP53, and CDKN2A genes using PCR-Sanger in 58 women with impalpable lesions.
  • Analysis of both breast tissue and corresponding cfDNA samples.
  • Statistical analysis using chi-square or Fisher's exact test.

Main Results:

  • 51 out of 58 samples yielded successful mutation profiles in both lesion and cfDNA.
  • Mutations were detected in 27% of benign and 43% of malignant breast lesions.
  • Mutations were found in 5% of cfDNA from benign and 24% from malignant lesion cases.
  • Significant associations were found between PIK3CA mutations, lymph node involvement, and ductal tumors versus benign lesions.

Conclusions:

  • The study identified distinct mutations in PIK3CA, TP53, and CDKN2A genes, reflecting the heterogeneity of impalpable breast lesions.
  • Findings suggest a potential role for cfDNA analysis in understanding these lesions.
  • Further research is warranted to explore the functional significance of cfDNA in impalpable breast lesions.
Keywords:
CDKN2AImpalpable breast lesionsPIK3CATP53cfDNA

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