Publication: Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations
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Date
2022-02-01
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Abstract
Background: Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancerprone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant
transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the
condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated
polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH
variations.
Methods: We included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands
carrying pathogenic variations were screened via Sanger sequencing.
Results: Among 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene,
3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH
gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state.
Conclusion: In this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations
seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients
showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations.
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Keywords
Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Gastroenteroloji-(Hepatoloji), Medicine, Health Sciences, Internal Medicine Sciences, Internal Diseases, Gastroenterology and Hepatology, GASTROENTEROLOJİ VE HEPATOLOJİ, Klinik Tıp, Klinik Tıp (MED), GASTROENTEROLOGY & HEPATOLOGY, CLINICAL MEDICINE, Clinical Medicine (MED), Gastroenterology, Hepatology, Adenomatous polyposis coli, APC, MUTYH, GERMLINE MUTATIONS, FREQUENCY, GENE, PENETRANCE, VARIANTS, Adenomatous polyposis coli, APC, MUTYH
Citation
Ates E. A., ALAVANDA C., Demir S., KEKLİKKIRAN Ç., Attaallah W., ÖZDOĞAN O. C., GÜNEY A. İ., "Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations", TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.33, sa.2, ss.81-87, 2022