Özet:

Colorectal cancer is one of the three most common types of cancer in the world. Less than 10% of CNS patients are associated with germline mutations that form hereditary CNS syndrome. At the beginning of these diseases, family adenomatosis poliposis (FAP) APC gene mutations come with adenomatosis polipes. In our study, we aimed at determining the type and structure of APC mutations observed in the Turkish society. Method and Requirements: 24 patients have been applied to our clinic due to FAP. Peripheral blood samples were taken and DNA isolation was performed. The sequencing process was carried out with the new generation sequencing method in the Illumina MiSeq system. Data analysis was carried out on QIAGEN Clinical Insight (QCITM). FUNCTIONS: In 6 of 24 patients (25%) pathogenic mutations were detected, while in one patient two different pathogenic mutations (c.3183_3187delACAAA and c.163C>T) were detected. c.2309C>G(p.S770*) mutation was detected in two brothers. Except for these, the mutations of c.4393_4394delCC(p.S1465fs*3), c.4405_4406dupCA(p.Q1469fs*5), c.4312delA(p.T1438fs*35), c.3927_3931delAAAGA(p.E1309fs*4) were detected. MUTATIONS AND RESULTATES: The most frequent mutations in the APC gene have been as causes of FAP. There are more than 2000 mutations in literature. In our study, 25% pathogenic mutations were identified in accordance with literature. These mutations are c.163C>T (p.Q55*) and 16 in the 1st exodus. The c.4312delA (p.T1438fs*35), c.4405_4406dupCA (p.Q1469fs*5), is first in our study. With the reporting of new mutations, the 1st and 14th exoons of the gene can take an important place, especially in exoons 16, and with the new mutations the structure of the gene can be better understood.

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