Original Title: Biomarqueurs tumoraux liés à la prise en charge des personnes atteintes d’un cancer colorectal

Authors' objectives: Next-generation sequencing (NGS) is a more recent method that provides gene panelbased analysis of different combinations of target sequences in a variety of genes associated with several pathological conditions, including cancer. As such, NGS has the potential to replace a number of laboratory analyses, which are currently performed independently. The added value of introducing a given sequencing gene panel partly relies on the proportion of target sequences included in the gene panel that are useful for the management of individuals with a particular disease. With the aim of promoting the judicious use of this type of analysis and to standardize patient care, INESSS has been mandated by the Programme québécois de cancérologie (PQC) to compile a list of useful biomarkers to guide the management of people with various types of solid tumors, including colorectal cancer.

Authors' results and conclusions: RESULTS: A total of 35 publications were selected. Biomarkers recommended by expert panels/professional organizations are all predictive and include various types of alterations in KRAS, NRAS, BRAF, NTRK, HER2 and RET genes, high microsatellite instability (MSI-H), mismatch repair defects (dMMR) and high tumor mutational burden (TMB-H). In addition to their ability to predict response to treatment, some of the biomarkers identified also have prognostic (BRAFV600E and MSI-H/dMMR) and diagnostic (MSI-H/dMMR) value. CONCLUSION: There are several tumor biomarkers associated with the management of individuals with colorectal cancer. Some are useful in Québec practice, while others are associated with drugs approved for other indications, or which have been refused listing for the indication under consideration. According to the experts consulted, information provided by biomarker testing would be useful for the management of people with colorectal cancer, as it contributes to a better characterization of the disease and enables a certain number of patients to benefit from various drug access programs or to be directed towards the appropriate clinical studies.

Authors' methods: An exhaustive literature review (practice guidelines and expert consensus) was conducted to identify tumor biomarkers recommended for the management of colorectal cancer or solid tumors targeted by an agnostic therapeutic approach (indirectly including colorectal cancer). Evidence supporting recommendations from cited organizations was extracted from published primary studies to document the magnitude of benefit derived from the decision to personalize management according to the biomarker detected. Information pertaining to approval and listing status of drugs associated with predictive biomarkers was collected to determine the value of testing for these biomarkers in the current context of Quebec practice.

Project Status: Completed

URL for project: https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/biomarqueurs-tumoraux-lies-a-la-prise-en-charge-des-personnes-atteintes-dune-tumeur-solide.html

Year Published: 2024

URL for published report: https://www.inesss.qc.ca/fileadmin/doc/INESSS/Rapports/Oncologie/INESSS_Cancer_colorectal_biomarqueurs_EC_VF.pdf

English language abstract: An English language summary is available

Publication Type: Other

Country: Canada

Province: Quebec

Organisation Name: Institut national d'excellence en sante et en services sociaux

Contact Address: L'Institut national d'excellence en sante et en services sociaux (INESSS) , 2021, avenue Union, bureau 10.083, Montreal, Quebec, Canada, H3A 2S9;Tel: 1+514-873-2563, Fax: 1+514-873-1369

Contact Name: demande@inesss.qc.ca

Contact Email: demande@inesss.qc.ca

Copyright: L'Institut national d'excellence en sante et en services sociaux (INESSS)