Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.
Bottom Line: After removing eight patients with CHEK2 mutations and 11 MUTYH heterozygotes, the percentage of patients with 'actionable' mutations that would clearly alter cancer screening recommendations per national guidelines decreased to 7.2%.Of 42 patients with an 'actionable' result, 30 (71%) clearly met established syndrome-based testing guidelines.Results are discussed in the context of benefits and concerns that have been raised about panel-based testing implementation.
Affiliation: H. Lee Moffitt Cancer Center, Tampa, FL, USA.Show MeSH
Related in: MedlinePlus
Mentions: Results of ColoNext™ testing are summarized in Fig. 1. Of 586 patients, 61 (10.4%) were positive for a mutation in at least one of the genes analyzed. Only one person had two pathogenic mutations (MLH1 and CHEK2). After removing the 8 other patients with CHEK2 mutations and all 11 patients in whom only 1 MUTYH mutation was identified, the number of patients with actionable mutations decreased to 42 (7.2%), with over half of these occurring in Lynch syndrome genes.