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Amacımız, yaş ve aile hikayesinden bağımsız olarak merkezimizde over (OC) ve endometriyum kanseri (EC) tanısı ile cerrahisi ve ardından genetik mutasyon analizi uygulanan hastalarımızın mutasyon sıklığını ve sekanslarını araştırmaktır. Son yıllarda önleyici stratejilerin gelişimi dışında tedavi seçeneklerindeki fırsatlar ve genetik çalışmaların artışı herediter kanserlere ilgiyi arttırmıştır. En sık görülen herediter jinekolojik kanserler herediter meme over kanseri (HBOC) ve Lynch Sendromu (LS) dur. Hastalığın düşük prevalansı, test pahalılığı ve etik sebepler popülasyon bazlı taramayı kullanışsız hale getirmektedir. Birimimizde 01.04.2018-01.10.2019 tarihleri arasında genetik araştırması yapılan 37 EC ve 15 OC tanısı almış hastamız çalışmaya dahil edilmiştir. BRCA1/2 ve LS genlerini de içeren (MLH1, MSH2, MSH6, PMS 2) 25 genden oluşan geniş ailevi panel testi uygulanmıştır. Ailevi gen paneli testi yapılan 27 EC hastamızda, 1 MLH1 ve 1 ATM geninde patolojik mutasyon saptandı (%3.7 LS,%3.7 non LS). 11 hastada önemi belirsiz varyant mutasyon (VUS) görüldü (%40.7). BRCA mutasyon araştırması yapılan 20 EC’li hastamızda patolojik mutasyon saptanmadı. BRCA mutasyonu araştırılan 14 OC’lu hastamızda 3 patolojik varyant identifiye edildi ve hepsi BRCA1 genindeydi (HBOC %21,4). Ailevi kanser paneli değerlendirilen 4 OC’lu hastada 1 MSH6 ve 1 ATM geninde patolojik mutasyonlar izlendi. Over ve endometriyum kanserlerinde ailevi geniş mutasyon verilerinin çoğalması ve literatürde paylaşımı VUS oranlarını azaltacak, BRCA ve LS dışındaki genlerin jinekolojik kanserlerdeki rolünü ortaya çıkartacak ve yeni tarama algoritmalarını oluşturacaktır.
Our goal is to investigate the frequency and sequences of mutations of our patients in our center, regardless of age and family history, with over (OC) and endometrium cancer (EC) diagnosis and surgery and then genetic mutation analysis. In recent years, in addition to the development of preventive strategies, opportunities in treatment options and increased genetic studies have increased interest in hereditary cancer. The most common hereditary gynecological cancers are hereditary breast over cancer (HBOC) and Lynch syndrome (LS). The low prevalence of the disease, the cost of testing and the ethical reasons make population-based scan useless. Our patient diagnosed with 37 EC and 15 OC in genetic research between 01.04.2018-01.10.2019 was included in the study. A large family panel test consisting of 25 genes (MLH1, MSH2, MSH6, PMS 2) which also contain BRCA1/2 and LS genes was applied. In our 27 EC patients, 1 MLH1 and 1 ATM genes were diagnosed with pathological mutations (3.7% LS, 3.7% non LS). In 11 patients the importance of uncertain variable mutation (VUS) was observed (40.7%). In our 20 EC patients with a BRCA mutation study, pathological mutations were not detected. In our 14 OC patients with BRCA mutation, 3 pathological variants were identified and all were in the BRCA1 gene (21.4% HBOC). Patological mutations were observed in 1 MSH6 and 1 ATM genes in 4 OC patients assessed by the family cancer panel. The multiplication of family wide mutation data in over and endometrium cancers and the sharing in literature will reduce VUS rates, reveal the role of genes outside BRCA and LS in gynecological cancers and create new scan algorithms.
Our objective is to investigate the mutation frequency and sequences of our patients, who underwent surgery with a diagnosis of ovarian (OC) and endometrial cancer (EC) and subsequently underwent genetic mutation analysis, regardless of age and family history. In recent years, apart from the development of preventive strategies, opportunities in treatment options and increase in genetic studies have increased the interest in hereditary cancers. The most common hereditary gynecological cancers are hereditary breast ovarian cancer (HBOC) and Lynch Syndrome (LS). The low prevalence of the disease, cost of testing, and ethical reasons make population-based screening impractical. 37 patients diagnosed with endometrial cancer and 15 patients diagnosed with ovarian cancer were included in the study, and their genetic research was conducted in our department between 01.04.2018 and 01.10.2019. A large familial panel test consisting of 25 genes including BRCA1/2 and LS genes (MLH1, MSH2, MSH6, PMS 2) was performed. Pathological mutation was found in 1 MLH1 and 1 ATM genes in 27 patients with endometrial cancer who underwent familial gene panel test (3.7% LS, 3.7% non LS). Eleven patients had a variant mutation of uncertain significance (VUS) (40.7%). No pathological mutation was found in our 20 patients with endometrial cancer who were investigated for BRCA mutation. In our 14 patients with ovarian cancer whose BRCA mutation was investigated, 3 pathological variants were identified, and all of them were in BRCA1 gene (HBOC 21.4%). Pathological mutations in 1 MSH6 and 1 ATM genes were observed in 4 patients with ovarian cancer whose familial cancer panel was evaluated. The proliferation of comprehensive familial mutation data in ovarian and endometrial cancers and their sharing in the literature will reduce VUS rates, reveal the role of genes other than BRCA and LS in gynecological cancers, and create new screening algorithms.
Field : Sağlık Bilimleri
Journal Type : Ulusal
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