In:
Pathobiology, S. Karger AG, Vol. 90, No. 3 ( 2023), p. 166-175
Abstract:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Colorectal carcinoma (CRC) is among the most common carcinomas in women and men. In the advanced stage, patients are treated based on the 〈 i 〉 RAS 〈 /i 〉 status. Recent studies indicate that in the future, in addition to 〈 i 〉 KRAS 〈 /i 〉 and 〈 i 〉 NRAS 〈 /i 〉 , alterations in other genes, such as 〈 i 〉 PIK3CA 〈 /i 〉 or 〈 i 〉 TP53 〈 /i 〉 , will be considered for therapy. Therefore, it is important to know the mutational landscape of routinely diagnosed CRC. 〈 b 〉 〈 i 〉 Method: 〈 /i 〉 〈 /b 〉 We report the molecular profile of 512 Swiss CRC patients analyzed by targeted next-generation sequencing as part of routine diagnostics at our institute. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Pathogenic and likely pathogenic variants were found in 462 (90%) CRC patients. Variants were detected in 〈 i 〉 TP53 〈 /i 〉 (54.3%), 〈 i 〉 KRAS 〈 /i 〉 (48.2%), 〈 i 〉 PIK3CA 〈 /i 〉 (15.6%), 〈 i 〉 BRAF 〈 /i 〉 (13.5%), 〈 i 〉 SMAD4 〈 /i 〉 (10.5%), 〈 i 〉 FBXW7 〈 /i 〉 (7.8%), 〈 i 〉 NRAS 〈 /i 〉 (3.5%), 〈 i 〉 PTEN 〈 /i 〉 (2.7%), 〈 i 〉 ERBB2 〈 /i 〉 (1.6%), 〈 i 〉 AKT1 〈 /i 〉 (1.5%), and 〈 i 〉 CTNNB1 〈 /i 〉 (0.9%). The remaining pathogenic alterations were found in the genes 〈 i 〉 ATM 〈 /i 〉 ( 〈 i 〉 n 〈 /i 〉 = 1), 〈 i 〉 MAP2K1 〈 /i 〉 ( 〈 i 〉 n 〈 /i 〉 = 1), and 〈 i 〉 IDH2 〈 /i 〉 ( 〈 i 〉 n 〈 /i 〉 = 1). 〈 b 〉 〈 i 〉 Discussion/Conclusions: 〈 /i 〉 〈 /b 〉 Our analysis revealed the prevalence of potential predictive markers in a large cohort of CRC patients obtained during routine diagnostic analysis. Furthermore, our study is the first of this size to uncover the molecular landscape of CRC in Switzerland.
Type of Medium:
Online Resource
ISSN:
1015-2008
,
1423-0291
Language:
English
Publisher:
S. Karger AG
Publication Date:
2023
detail.hit.zdb_id:
1483541-1
SSG:
12
