Real‐world genomic landscape of colon and rectal cancer

MAPK signaling activation is an important driver event in colorectal cancer (CRC) tumorigenesis that informs therapy selection, but detection by liquid biopsy can be challenging. We analyze real‐world comprehensive genomic profiling (CGP) data to explore the landscape of alterations in BRAF or RAS i...

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Main Authors: Markus Schulze, XiaoZhe Wang, Jawad Hamad, Julia C. F. Quintanilha, Lincoln W. Pasquina, Julia F. Hopkins, Juergen Scheuenpflug, Zheng Feng
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:FEBS Open Bio
Subjects:
Online Access:https://doi.org/10.1002/2211-5463.13957
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author Markus Schulze
XiaoZhe Wang
Jawad Hamad
Julia C. F. Quintanilha
Lincoln W. Pasquina
Julia F. Hopkins
Juergen Scheuenpflug
Zheng Feng
author_facet Markus Schulze
XiaoZhe Wang
Jawad Hamad
Julia C. F. Quintanilha
Lincoln W. Pasquina
Julia F. Hopkins
Juergen Scheuenpflug
Zheng Feng
author_sort Markus Schulze
collection DOAJ
description MAPK signaling activation is an important driver event in colorectal cancer (CRC) tumorigenesis that informs therapy selection, but detection by liquid biopsy can be challenging. We analyze real‐world comprehensive genomic profiling (CGP) data to explore the landscape of alterations in BRAF or RAS in CRC patients (N = 51 982) and co‐occurrence with other biomarkers. A pathogenic RAS or BRAF alteration was found in 63.2% and 57.9% of colon and rectal cancer samples, respectively. In a subset of 140 patients with both tissue‐ and liquid‐based CGP, the sensitivity of liquid for results found by tissue was 100% when ctDNA tumor fraction was at least 1%, illustrating the utility of tissue and liquid biopsy in detecting driver alterations in CRC.
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spelling doaj-art-4bea160551ad42239df7edc6ce0f69ca2025-08-20T02:54:39ZengWileyFEBS Open Bio2211-54632025-04-0115467468510.1002/2211-5463.13957Real‐world genomic landscape of colon and rectal cancerMarkus Schulze0XiaoZhe Wang1Jawad Hamad2Julia C. F. Quintanilha3Lincoln W. Pasquina4Julia F. Hopkins5Juergen Scheuenpflug6Zheng Feng7Clinical Measurement Sciences, Global Research & Development Merck KGaA Darmstadt GermanyClinical Measurement Sciences, Global Research & Development EMD Serono Billerica MA USAMedical Unit Oncology Merck Healthcare KGaA Darmstadt GermanyFoundation Medicine Inc Cambridge MA USAFoundation Medicine Inc Cambridge MA USAFoundation Medicine Inc Cambridge MA USAClinical Measurement Sciences, Global Research & Development Merck KGaA Darmstadt GermanyClinical Measurement Sciences, Global Research & Development EMD Serono Billerica MA USAMAPK signaling activation is an important driver event in colorectal cancer (CRC) tumorigenesis that informs therapy selection, but detection by liquid biopsy can be challenging. We analyze real‐world comprehensive genomic profiling (CGP) data to explore the landscape of alterations in BRAF or RAS in CRC patients (N = 51 982) and co‐occurrence with other biomarkers. A pathogenic RAS or BRAF alteration was found in 63.2% and 57.9% of colon and rectal cancer samples, respectively. In a subset of 140 patients with both tissue‐ and liquid‐based CGP, the sensitivity of liquid for results found by tissue was 100% when ctDNA tumor fraction was at least 1%, illustrating the utility of tissue and liquid biopsy in detecting driver alterations in CRC.https://doi.org/10.1002/2211-5463.13957BRAFcolorectal cancerRASreal‐world data
spellingShingle Markus Schulze
XiaoZhe Wang
Jawad Hamad
Julia C. F. Quintanilha
Lincoln W. Pasquina
Julia F. Hopkins
Juergen Scheuenpflug
Zheng Feng
Real‐world genomic landscape of colon and rectal cancer
FEBS Open Bio
BRAF
colorectal cancer
RAS
real‐world data
title Real‐world genomic landscape of colon and rectal cancer
title_full Real‐world genomic landscape of colon and rectal cancer
title_fullStr Real‐world genomic landscape of colon and rectal cancer
title_full_unstemmed Real‐world genomic landscape of colon and rectal cancer
title_short Real‐world genomic landscape of colon and rectal cancer
title_sort real world genomic landscape of colon and rectal cancer
topic BRAF
colorectal cancer
RAS
real‐world data
url https://doi.org/10.1002/2211-5463.13957
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AT xiaozhewang realworldgenomiclandscapeofcolonandrectalcancer
AT jawadhamad realworldgenomiclandscapeofcolonandrectalcancer
AT juliacfquintanilha realworldgenomiclandscapeofcolonandrectalcancer
AT lincolnwpasquina realworldgenomiclandscapeofcolonandrectalcancer
AT juliafhopkins realworldgenomiclandscapeofcolonandrectalcancer
AT juergenscheuenpflug realworldgenomiclandscapeofcolonandrectalcancer
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