학술논문
TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study
Document Type
article
Author
Mark A. Catherwood; Dorte Wren; Laura Chiecchio; Doriane Cavalieri; David Donaldson; Sarah Lawless; Ezzat ElHassadi; Amjad Hayat; Mary R. Cahill; Derville O’Shea; Jeremy Sargent; Peter Stewart; Manisha Maurya; John Quinn; Philip Murphy; David Gonzalez de Castro; Ken Mills; Nicholas C. P. Cross; Francesco Forconi; Sunil Iyengar; Anna Schuh; Patrick Thornton
Source
Frontiers in Oncology, Vol 12 (2022)
Subject
Language
English
ISSN
2234-943X
Abstract
Limited data exists to show the correlation of (tumour protein 53) TP53 mutation detected by Next generation sequencing (NGS) and the presence/absence of deletions of 17p13 detected by FISH. The study which is the largest series to date includes 2332 CLL patients referred for analysis of del(17p) by FISH and TP53 mutations by NGS before treatment. Using a 10% variant allele frequency (VAF) threshold, cases were segregated into high burden mutations (≥10%) and low burden mutations (