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APC gene analysis in familial adenomatosis polyposis: 3 new mutations in Turkish population
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Original Article
VOLUME: 53 ISSUE: 3
P: 373-377
2020

APC gene analysis in familial adenomatosis polyposis: 3 new mutations in Turkish population

Acta Haematol Oncol Turc 2020;53(3):373-377
DOI: 10.5505/aot.2020.08931
Ahmet Cevdet Ceylan 1
Gülay Ceylan 2
1. Ankara Yildirim Beyazit University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey
2. Ankara City Hospital, Medical Genetics Department, Ankara, Turkey
3.
No information available.
No information available
Received Date: 2020-06-06T20:08:18
Accepted Date: 2020-12-30T17:28:32
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Abstract

INTRODUCTION

Colorectal cancer (CRC) is among the three most common types of cancer worldwide. Less than 10% of CRC patients are associated with germline mutations that form hereditary CRC syndromes. APC gene mutations in the familial adenomatous polyposis (FAP) leading to the adenomatous polyp are at the top of these diseases. In our study, we aimed to determine the type and structure of APC mutations observed in Turkish society.

METHODS

24 patients applied to our clinic for FAP. Peripheral blood sample was collected from these patients and DNA isolated. Sequencing was performed with the new generation sequencing method in the Illumina MiSeq system. Data analyzes were performed on QIAGEN Clinical Insight (QCITM).

RESULTS

Pathogenic mutation was detected in 6 (25%) of 24 patients, while two different pathogenic mutations (c.3183_3187delACAAA and c.163C> T) were detected in one patient. The c.2309C> G (p.S770*) mutation was detected in two siblings. In addition, c.4393_4394delCC (p.S1465fs*3), c.4405_4406dupCA (p.Q1469fs*5), c.4312delA (p.T1438fs*35), c.3927_3931delAAAGA (p.E1309fs*4) mutations were detected.

DISCUSSION AND CONCLUSION

As the main causes of FAP, mutations in the APC gene have been reported most frequently. There are more than 2000 mutations in the literature. In our study, 25% pathogenic mutations were detected in accordance with the literature. Of these mutations, c.163C> T (p.Q55*) in exon 1 and c.4312delA (p.T1438fs*35) in exon 16, are reported for the first time. With the reporting of new mutations, it is seen that especially the 1st and 14th exons besides the 16th exon can take place and the structure of the gene can be better understood with new mutations.