Real-world genomic landscape of colon and rectal cancer

被引：0

作者：

Schulze, Markus ^{[1
]}

Wang, Xiaozhe ^{[2
]}

Hamad, Jawad ^{[3
]}

Quintanilha, Julia C. F. ^{[4
]}

Pasquina, Lincoln W. ^{[4
]}

Hopkins, Julia F. ^{[4
]}

Scheuenpflug, Juergen ^{[1
]}

Feng, Zheng ^{[2
]}

机构：

[1] Merck KgaA, Global Res & Dev, Clin Measurement Sci, Darmstadt, Germany

[2] EMD Serono, Global Res & Dev, Clin Measurement Sci, Billerica, MA USA

[3] Merck Healthcare KGaA, Med Unit Oncol, Darmstadt, Germany

[4] Fdn Med Inc, Cambridge, MA USA

来源：

FEBS OPEN BIO | 2025年

关键词：

<italic>BRAF</italic>; colorectal cancer; <italic>RAS</italic>; real-world data; MUTATIONS;

D O I：

10.1002/2211-5463.13957

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：674 / 685

页数：12

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