Akademik Veri Yönetim Sistemi
14. ULUSAL TIBBİ GENETİK KONGRESİ “Uluslararası Katılımlı”, Ankara, Türkiye, 20 - 22 Kasım 2020, ss.25
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