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Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

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dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorKEKLİKKIRAN, ÇAĞLAYAN
dc.contributor.authorÖZDOĞAN, OSMAN CAVİT
dc.contributor.authorGÜNEY, AHMET İLTER
dc.contributor.authorsAtes E. A., ALAVANDA C., Demir S., KEKLİKKIRAN Ç., Attaallah W., ÖZDOĞAN O. C., GÜNEY A. İ.
dc.date.accessioned2023-03-27T09:56:50Z
dc.date.available2023-03-27T09:56:50Z
dc.date.issued2022-02-01
dc.description.abstractBackground: 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.
dc.identifier.citationAtes 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
dc.identifier.doi10.5152/tjg.2021.201068
dc.identifier.endpage87
dc.identifier.issn2148-5607
dc.identifier.issue2
dc.identifier.startpage81
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128140/pdf/tjg-33-2-81.pdf
dc.identifier.urihttps://hdl.handle.net/11424/287858
dc.identifier.volume33
dc.language.isoeng
dc.relation.ispartofTURKISH JOURNAL OF GASTROENTEROLOGY
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectGastroenteroloji-(Hepatoloji)
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectInternal Medicine Sciences
dc.subjectInternal Diseases
dc.subjectGastroenterology and Hepatology
dc.subjectGASTROENTEROLOJİ VE HEPATOLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectGASTROENTEROLOGY & HEPATOLOGY
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectGastroenterology
dc.subjectHepatology
dc.subjectAdenomatous polyposis coli
dc.subjectAPC
dc.subjectMUTYH
dc.subjectGERMLINE MUTATIONS
dc.subjectFREQUENCY
dc.subjectGENE
dc.subjectPENETRANCE
dc.subjectVARIANTS
dc.subjectAdenomatous polyposis coli
dc.subjectAPC
dc.subjectMUTYH
dc.titleMutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations
dc.typearticle
dspace.entity.typePublication
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local.indexed.atSCOPUS
local.indexed.atTRDIZIN
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