Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi

Yıl: 2021 Cilt: 59 Sayı: 1 Sayfa Aralığı: 17 - 24 Metin Dili: Türkçe DOI: 10.4274/haseki.galenos.2020.6258 İndeks Tarihi: 19-06-2021

Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi

Öz:
Amaç: Kolorektal kanser (KRK) dünyada en sık görülen üçüncü kanserdir. Tüm KRK’lerin yaklaşık %5-6’sı germline mutasyonlar sonucunda ortaya çıkmaktadır. Ailesel KRK’lerin daha etkin yönetilebilmesi için gen panelleri ile mutasyon taraması yapılmaktadır. Bu çalışmada herediter polipozis koli tanılı hastalarda APC ve herediter non-polipozis koli tanılı hastaların MLH1/MSH2 genlerinde mutasyon taraması yapılmış, tespit edilen mutasyon dağılımları ve özellikleri incelenmiştir.Yöntemler: Çalışmaya Türkiye genelinden 152 polipozis koli, 123 non-polipozis koli hastası dahil edilmiş olup, APC, MLH1 ve MSH2 gen analizleri değerlendirilmiştir.Bulgular: Ailesel polipozis koli tanılı hastaların 39’unda (%25) APC geninde, herediter non-polipozis koli tanılı hastaların 24’ünde (%18,8) MLH1 ya da MSH2 genin de mutasyon tespit edilmiştir. Tespit edilen mutasyonlardan APC genindeki 5, MLH1 geninde 2, MSH2 genindeki 2 varyant patojenik/olası patojenik değerlendirilmiş olup literatürde daha önce bildirilmemiş varyantlardır.Sonuç: Bu çalışma ülkemizde ailesel KRK’lerin moleküler genetik etiyolojilerinin ortaya konulduğu en kapsamlı çalışmadır. Ailesel KRK etiyolojisinin ortaya konulması ile mutasyon tespit edilen ailelerde kapsamlı genetik danışma alabilmesine ve hasta/asemptomatik bireylerin ailesel kanser yönetim rehberlerine uygun takip edilebilmesine imkân sağlayacaktır.
Anahtar Kelime:

Investigation of APC, MLH1 and MSH2 Mutations in Patients with Hereditary Colorectal Carcinoma: A Single Center Experience

Öz:
Aim: Colorectal cancer (CRC) is the third most common cancer in the world. About 5-6% of all CRCs have a hereditary inheritance related with germline mutations. Mutation screening is carried out with gene panels for CRCs to manage family against to CRCs more effectively. In this study, mutation screening was performed by sequencing of APC in patients with hereditary polyposis coli and of MLH1/MSH2 in patients with hereditary non-polyposis coli and the detected mutation distributions and their properties were investigated. Methods: One hundred-fifty two patients with hereditary polyposis coli and 123 patients with hereditary non-polyposis coli were included to the study from Turkey and APC, MLH1 and MSH2 analysis were performed. Results: Thirty nine (25%) patients with hereditary polyposis coli and 24 (18.8%) patients with hereditary non-polyposis coli had mutation in APC and MLH/MSH2, respectively. Among the evaluated as pathogenic/likely pathogenic variants, 5 of them in APC, 2 of them in MLH1 and 2 of them in MSH2 have not been previously reported in the literature. Conclusion: This study is the most comprehensive study demonstrated that molecular genetic etiology of familial CRC in Turkey. With the explanation of familial CRC etiology, it will enable comprehensive genetic counseling and follow-up of patients/asymptomatic individuals in accordance with familial cancer management guidelines.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA Duz M (2021). Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. , 17 - 24. 10.4274/haseki.galenos.2020.6258
Chicago Duz Mehmet Bugrahan Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. (2021): 17 - 24. 10.4274/haseki.galenos.2020.6258
MLA Duz Mehmet Bugrahan Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. , 2021, ss.17 - 24. 10.4274/haseki.galenos.2020.6258
AMA Duz M Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. . 2021; 17 - 24. 10.4274/haseki.galenos.2020.6258
Vancouver Duz M Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. . 2021; 17 - 24. 10.4274/haseki.galenos.2020.6258
IEEE Duz M "Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi." , ss.17 - 24, 2021. 10.4274/haseki.galenos.2020.6258
ISNAD Duz, Mehmet Bugrahan. "Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi". (2021), 17-24. https://doi.org/10.4274/haseki.galenos.2020.6258
APA Duz M (2021). Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. Haseki Tıp Bülteni, 59(1), 17 - 24. 10.4274/haseki.galenos.2020.6258
Chicago Duz Mehmet Bugrahan Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. Haseki Tıp Bülteni 59, no.1 (2021): 17 - 24. 10.4274/haseki.galenos.2020.6258
MLA Duz Mehmet Bugrahan Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. Haseki Tıp Bülteni, vol.59, no.1, 2021, ss.17 - 24. 10.4274/haseki.galenos.2020.6258
AMA Duz M Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. Haseki Tıp Bülteni. 2021; 59(1): 17 - 24. 10.4274/haseki.galenos.2020.6258
Vancouver Duz M Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi. Haseki Tıp Bülteni. 2021; 59(1): 17 - 24. 10.4274/haseki.galenos.2020.6258
IEEE Duz M "Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi." Haseki Tıp Bülteni, 59, ss.17 - 24, 2021. 10.4274/haseki.galenos.2020.6258
ISNAD Duz, Mehmet Bugrahan. "Kalıtsal Kolorektal Kanser Tanılı Hastaların APC, MLH1 ve MSH2 Mutasyonlarının Araştırılması: Tek Merkez Deneyimi". Haseki Tıp Bülteni 59/1 (2021), 17-24. https://doi.org/10.4274/haseki.galenos.2020.6258