Your browser doesn't support javascript.
loading
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger, Simon; Marston, Katharina; Alborelli, Ilaria; Stauffer, Edouard-Jean; Gugger, Mathias; Jermann, Philip M; Hoeller, Sylvia; Tornillo, Luigi; Terracciano, Luigi M; Bihl, Michel; Matter, Matthias S.
Afiliação
  • Haefliger S; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland, s.haefliger@hotmail.com.
  • Marston K; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Alborelli I; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Stauffer EJ; Institute of Pathology, Promed Laboratoire Médical SA, Fribourg, Switzerland.
  • Gugger M; Institute of Pathology, Promed Laboratoire Médical SA, Fribourg, Switzerland.
  • Jermann PM; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Hoeller S; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Tornillo L; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Terracciano LM; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Bihl M; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Matter MS; Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
Pathobiology ; 90(3): 166-175, 2023.
Article em En | MEDLINE | ID: mdl-36202073
ABSTRACT

INTRODUCTION:

Colorectal carcinoma (CRC) is among the most common carcinomas in women and men. In the advanced stage, patients are treated based on the RAS status. Recent studies indicate that in the future, in addition to KRAS and NRAS, alterations in other genes, such as PIK3CA or TP53, will be considered for therapy. Therefore, it is important to know the mutational landscape of routinely diagnosed CRC.

METHOD:

We report the molecular profile of 512 Swiss CRC patients analyzed by targeted next-generation sequencing as part of routine diagnostics at our institute.

RESULTS:

Pathogenic and likely pathogenic variants were found in 462 (90%) CRC patients. Variants were detected in TP53 (54.3%), KRAS (48.2%), PIK3CA (15.6%), BRAF (13.5%), SMAD4 (10.5%), FBXW7 (7.8%), NRAS (3.5%), PTEN (2.7%), ERBB2 (1.6%), AKT1 (1.5%), and CTNNB1 (0.9%). The remaining pathogenic alterations were found in the genes ATM(n= 1), MAP2K1(n= 1), and IDH2(n= 1). DISCUSSION/

CONCLUSIONS:

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.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais / Proteínas Proto-Oncogênicas p21(ras) Tipo de estudo: Diagnostic_studies / Prevalence_studies / Risk_factors_studies Limite: Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais / Proteínas Proto-Oncogênicas p21(ras) Tipo de estudo: Diagnostic_studies / Prevalence_studies / Risk_factors_studies Limite: Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article