Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis

Journal of Clinical Medicine
Begona Jimenez RodriguezEmilio Alba

Abstract

Circulating tumor DNA (ctDNA) has emerged as a non-invasive "liquid biopsy" for early breast cancer diagnosis. We evaluated the suitability of ctDNA analysis in the diagnosis of early breast cancer after mammography findings, comparing PIK3CA and TP53 mutations between tumor biopsies and pre-biopsy circulating DNA. Matched plasma and frozen fresh tissue biopsies from patients with Breast Imaging-Reporting and Data System (BIRADS) 4c/5 mammography findings and subsequent diagnosis of primary breast cancer were analyzed using NGS TruSeq Custom Amplicon Low Input Panel (Illumina) and plasma SafeSEQ (Sysmex Inostics). The same plasma and tumor mutations were observed in eight of 29 patients (27.6%) with four in TP53 and five in PIK3CA mutations. Sequencing analysis also revealed four additional ctDNA mutations (three in TP53 and one in PIK3CA) previously not identified in three patients tissue biopsy. One of these patients had mutations in both genes. Age, tumor grade and size, immunohistochemical (IHC) subtype, BIRADS category, and lymph node positivity were significantly associated with the detectability of these blood tumor-derived mutations. In conclusion, ctDNA analysis could be used in early breast cancer diagnosis, providing...Continue Reading

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Citations

Nov 2, 2019·Critical Reviews in Clinical Laboratory Sciences·Eleni Tzanikou, Evi Lianidou
Sep 3, 2020·Current Treatment Options in Oncology·Emily Miller, Lee Schwartzberg
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Mar 12, 2021·Neuroscience Letters·Philippe-Pierre RobichaudPier Jr Morin
May 18, 2021·Clinical Genetics·Yuanli Wang, Dawu Zheng

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Methods Mentioned

BETA
biopsy
biopsies
PCR
Illumina sequencing

Software Mentioned

BaseCall
SafeSEQ
HercepTest
CASAVA
SPSS
GLOBOCAN
Illumina

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