Analysis of polyposis and hereditary colorectal cancer related genes by targeted next generation sequencing

Ercoşkun P., Yüce Kahraman Ç., Tatar A., Cinkara N., Yakar Ö., Adanur Sağlam K.

14. ULUSAL TIBBİ GENETİK KONGRESİ “Uluslararası Katılımlı”, Ankara, Turkey, 20 - 22 November 2020, pp.25

  • Publication Type: Conference Paper / Summary Text
  • City: Ankara
  • Country: Turkey
  • Page Numbers: pp.25
  • Karadeniz Technical University Affiliated: No


Colorectal cancer is the fourth most common deadly cancer in the world. Approximately 5-7% patients with colorectal cancer have a well defined hereditary colorectal cancer syndrome. Analysis of multigene panels with next generation sequencing system (NGS) facilitated the diagnosis of the hereditary colorectal cancer syndroms. In this study, we aimed to analyze the results of the patients with colorectal cancer or polyposis. Germline hereditary cancer panel was performed by Illumına MiSeq NGS system in 74 patients. Variants within the reportable range was classified by the guidelines of ACMG. Approximately 40% of all patients had a pathogenic/likely pathogenic mutation. Almost all of patients with polyposis had a pathogenic mutation in MUTHY or APC genes. 27 heterozygous variants were assessed as variants of uncertain clinical significance. We detected 13 novel variations including 7 pathogenic/likely pathogenic and 6 variants of uncertain significance. Half of pathogenic/likely pathogenic mutations were in MUTHY gene. The other half of mutations were in the MSH2, APC, MLH1, PTEN and CHEK2 genes. Individuals at risk of cancer in family was screened for the same mutation. As a result, targeted next generation sequencing system has an effective role in detecting the hereditary cancer syndrome in young patients.Keywords: Colorectal cancer, Next generation sequencin