RT Journal Article
T1 Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis.
A1 Jimenez-Rodriguez, Begona
A1 Diaz-Cordoba, Gema
A1 Garrido-Aranda, Alicia
A1 Alvarez, Martina
A1 Vicioso, Luis
A1 Llacer-Perez, Casilda
A1 Hernando, Cristina
A1 Bermejo, Begoña
A1 Julve-Parreño, Ana
A1 Lluch, Ana
A1 Ryder, Matthew B
A1 Jones, Frederick S
A1 Fredebohm, Johannes
A1 Holtrup, Frank
A1 Queipo-Ortuño, Maria Isabel
A1 Alba, Emilio
K1 Breast cancer
K1 Circulating tumor DNA (ctDNA)
K1 Early-stage cancer
K1 Liquid biopsy
K1 Molecular profiling
AB 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 critical clinical information to improve patient diagnosis.
PB MDPI
SN 2077-0383
YR 2019
FD 2019-08-07
LK http://hdl.handle.net/10668/14381
UL http://hdl.handle.net/10668/14381
LA en
NO Rodriguez BJ, Córdoba GD, Aranda AG, Álvarez M, Vicioso L, Pérez CL, et al.  Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis. J Clin Med. 2019 Aug 7;8(8):1183
DS RISalud
RD Apr 6, 2025