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

Arslan Ates, Esra; Güney, Ahmet İlter; DEMİR, SENOL; Attaallah, Wafi; Özdoğan, Osman; Alavanda, Ceren; Keklikkiran, Caglayan

doi:10.5152/tjg.2021.201068

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

Esra ARSLAN ATEŞ, (Marmara Üniversitesi Pendik Eğitim ve Araştırma Hastanesi, Genetik Hastalıklar Tanı Merkezi, İstanbul, Türkiye)

Ceren ALAVANDA, (Marmara Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, İstanbul, Türkiye)

Şenol DEMİR, (Marmara Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, İstanbul, Türkiye)

Caglayan KEKLİKKİRAN, (Marmara Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Gastroenteroloji, İstanbul, Türkiye)

Wafi ATTAALLAH, (Marmara Üniversitesi Tıp Fakültesi Genel Cerrahi Anabilim Dalı, İstanbul, Türkiye)

Osman Cavit ÖZDOĞAN, (Marmara Üniversitesi Tıp Fakültesi, Gastroenteroloji, İç Hastalıkları Anabilim Dalı, İstanbul, Türkiye)

Ahmet İlter GÜNEY (Marmara Üniversitesi Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, İstanbul, Türkiye)

Turkish Journal of Gastroenterology

7 1

Yıl: 2022 Cilt: 33 Sayı: 2 Sayfa Aralığı: 81 - 87 Metin Dili: İngilizce DOI: 10.5152/tjg.2021.201068 İndeks Tarihi: 24-06-2022

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

Öz:

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.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	Arslan Ates E, Alavanda C, DEMİR S, Keklikkiran C, Attaallah W, Özdoğan O, Güney A (2022). Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. , 81 - 87. 10.5152/tjg.2021.201068
Chicago	Arslan Ates Esra,Alavanda Ceren,DEMİR SENOL,Keklikkiran Caglayan,Attaallah Wafi,Özdoğan Osman,Güney Ahmet İlter Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. (2022): 81 - 87. 10.5152/tjg.2021.201068
MLA	Arslan Ates Esra,Alavanda Ceren,DEMİR SENOL,Keklikkiran Caglayan,Attaallah Wafi,Özdoğan Osman,Güney Ahmet İlter Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. , 2022, ss.81 - 87. 10.5152/tjg.2021.201068
AMA	Arslan Ates E,Alavanda C,DEMİR S,Keklikkiran C,Attaallah W,Özdoğan O,Güney A Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. . 2022; 81 - 87. 10.5152/tjg.2021.201068
Vancouver	Arslan Ates E,Alavanda C,DEMİR S,Keklikkiran C,Attaallah W,Özdoğan O,Güney A Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. . 2022; 81 - 87. 10.5152/tjg.2021.201068
IEEE	Arslan Ates E,Alavanda C,DEMİR S,Keklikkiran C,Attaallah W,Özdoğan O,Güney A "Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations." , ss.81 - 87, 2022. 10.5152/tjg.2021.201068
ISNAD	Arslan Ates, Esra vd. "Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations". (2022), 81-87. https://doi.org/10.5152/tjg.2021.201068

APA	Arslan Ates E, Alavanda C, DEMİR S, Keklikkiran C, Attaallah W, Özdoğan O, Güney A (2022). Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. Turkish Journal of Gastroenterology, 33(2), 81 - 87. 10.5152/tjg.2021.201068
Chicago	Arslan Ates Esra,Alavanda Ceren,DEMİR SENOL,Keklikkiran Caglayan,Attaallah Wafi,Özdoğan Osman,Güney Ahmet İlter Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. Turkish Journal of Gastroenterology 33, no.2 (2022): 81 - 87. 10.5152/tjg.2021.201068
MLA	Arslan Ates Esra,Alavanda Ceren,DEMİR SENOL,Keklikkiran Caglayan,Attaallah Wafi,Özdoğan Osman,Güney Ahmet İlter Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. Turkish Journal of Gastroenterology, vol.33, no.2, 2022, ss.81 - 87. 10.5152/tjg.2021.201068
AMA	Arslan Ates E,Alavanda C,DEMİR S,Keklikkiran C,Attaallah W,Özdoğan O,Güney A Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. Turkish Journal of Gastroenterology. 2022; 33(2): 81 - 87. 10.5152/tjg.2021.201068
Vancouver	Arslan Ates E,Alavanda C,DEMİR S,Keklikkiran C,Attaallah W,Özdoğan O,Güney A Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations. Turkish Journal of Gastroenterology. 2022; 33(2): 81 - 87. 10.5152/tjg.2021.201068
IEEE	Arslan Ates E,Alavanda C,DEMİR S,Keklikkiran C,Attaallah W,Özdoğan O,Güney A "Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations." Turkish Journal of Gastroenterology, 33, ss.81 - 87, 2022. 10.5152/tjg.2021.201068
ISNAD	Arslan Ates, Esra vd. "Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations". Turkish Journal of Gastroenterology 33/2 (2022), 81-87. https://doi.org/10.5152/tjg.2021.201068