aot2022v55i2

More documents

Recommendations

Info

Quality of Life Assessment with EORTC QLQ in Patients with Hodgkin Lymphoma:Multicenter StudyHodgkin Lenfoma Hastalarında EORTC QLQ ile Yaşam Kalitesi Değerlendirmesi: ÇokMerkezli ÇalışmaAliihsan Gemici, Istemi Serin, Vedat Buğra Erol, Mehmet Hilmi Doğu, İdris İnce,Rafet Eren, Atakan Tekinalp, Volkan Karakuş, Ömur Gökmen SevindikThe Views of Patients with Hematological Malignancies About Complementary andAlternative MedicineHematolojik Maligniteli Hastaların Tamamlayıcı ve Alternatif Tıp HakkındakiGörüşleriDerya Şahin, Semih Başcı, Samet Yaman, Tahir Darçın, Bahar Uncu Ulu, Nuran AhuBaysal, Dicle İskender, Tuğçe Nur Yiğenoğlu, Tuba Hacıbekiroğlu, Merih Kızıl Çakar,Mehmet Sinan Dal, Fevzi AltuntaşPrognostic Significance of Fibrinogen-to-Albumin Ratioin Small Cell Lung CancerKüçük Hücreli Akciğer Kanserinde Fibrinojen-Albümin OranınınPrognostik ÖnemiHatice Yılmaz, Ali Aytaç, Büşra Niğdelioğlu, Özlem Yersal, Sabri BarutcaEvaluation of Patients with Chronic Immune Thrombocytopenic Purpura Treatedwith Eltrombopag: A Single Center ExperienceEltrombopag Tedavisi Alan Kronik İmmün Trombositopenik Purpura Tanılı HastalarınDeğerlendirilmesi: Tek Merkez DeneyimiSedanur Oğuzman, Hava Üsküdar Teke, Neslihan Andıç, Eren GündüzComparison of Clavien-Dindo and Common Terminology Criteria for Adverse EventsClassifications in Postoperative Early-Stage Complicationsof Patients with Colorectal CancerKolorektal Kanserli Hastaların Postoperatif Erken Dönem KomplikasyonlarındaClavien-Dindo ve Common Terminology Criteria for Adverse EventsSınıflamalarının KarşılaştırılmasıVeysel Cem Özcan, Suat Kutun, Kubilay Kenan Özlük, Eda Güner,Bülent Aksel, Lütfi Doğan, Cihangir ÖzaslanEvaluation of Factors Associated with Retinal Hemorrhage in Patients with AcuteLeukemiaAkut Lösemili Hastalarda Retina Kanaması ile İlişkili Faktörlerin DeğerlendirilmesiSibel Özdoğan, Ayşenur Çelik, Semih BaşcıInflammatory Myofibroblastic Tumor of the Breast in 64 – Year – Old Women64 Yaş Kadın Hastada Memede İnflamatuar Miyofibroblastik TümörEda Güner, Fatma Markoç, Cihangir Özaslan128-138139-146147-158159-164165-173174-179180-185
Acta Oncologica Turcica 2022; 55: 77-8477Original ArticleBRCA and non-BRCA Variants Detected by Next Generation Sequencing inPatients with Hereditary Breast and/or Ovarian Cancer SyndromeKalıtsal Meme ve/veya Over Kanseri Sendromlu Olgularda Yeni Nesil Dizilemeile Saptanan BRCA ve non-BRCA VaryantlarHamide Betül Gerik Çelebi 1 , Hilmi Bolat 21Department of Medical Genetics, Balıkesir Atatürk City Hospital, Balıkesir, Turkey2Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, TurkeyABSTRACTIntroduction: Breast cancer is the most frequently diagnosed female cancer according to the 2020 dataof the World Health Organization. It is mostly sporadic, 10-15% of which occur on the basis of geneticpredisposition. In this study, we aimed to detect mutations in BRCA and non-BRCA genes in patientsadmitted with the diagnosis of breast cancer and/or ovarian cancer, and to identify mutations withincreased frequency and variants specific to the Turkish population.Materials and methods: Between January 2019 and August 2021, 120 patients who applied to ourclinic with hereditary Breast and/or Ovarian Cancer meeting the genetic test study criteria were includedin the study. First, BRCA1/2 genes next-generation sequencing were performed on these patients,respectively. BRCA1 and BRCA2 gene deletion duplication analysis and/or multiple gene panelassociated with cancer susceptibility were studied from patients with no mutations.Results: In this molecular genetic susceptibility study associated with Hereditary Breast and/or OvarianCancer, 33.3 % positive variants were found in BRCA and non-BRCA genes. BRCA1/2 mutations weredetected in 20 patients. In addition, non-BRCA mutations (ATM, CHEK2, RAD50, RAD51D, STK11,SDHA, RB1, POLD1, SMAD4, CDH1 and CDKN22 genes) were detected in 20 patients. We identifieda total of 7 new variants in the BRCA2, ATM, RAD50, RAD51D, STK11 and POLD1 genes.Discussion: Clarification of risks specific to non-BRCA genes is necessary for a better understandingof the Hereditary Breast and/or Ovarian Cancer Syndrome (HBOC) genetic susceptibility spectrum.Therefore, multi-gene panel testing is needed after routine BRCA genes. In our study, most of the novelmutations were detected in non-BRCA genes. In addition, two novel BRCA variants have been reported.It also contributed to the identification of mutations specific to the Turkish population.Keywords: BRCA1/2, non-BRCA, HBOC, Turkish population, Multi-gene panel testÖZETGiriş ve Amaç: Meme kanseri Dünya Sağlık Örgütü’nün 2020 yılı verilerine göre en sık tanı alan kadınkanseridir. Çoğunlukla sporadik olmakla birlikte %10-15 oranında genetik yatkınlık zemininde ortayaçıkar. Meme kanseri ve/veya over kanseri tanısıyla başvuran hastalardaki genetik yatkınlığıaraştırdığımız bu çalışmamızda amacımız BRCA ve non-BRCA genlerinde saptadığımız varyantlarısunmak ve Türk popülasyonuna özgü mutasyonları belirmektir.Yöntem ve Gereçler: Ocak 2019-Agustos 2021 tarihleri arasinda klinigimize kalitsal Meme ve/veyaYumurtalik Kanseri ile basvuran, genetik test calisma kriterlerini karsilayan 120 hasta calismaya dahiledildi. Öncelikle sırasıyla BRCA1 ve BRCA2 geni dizi analizi çalışıldı. BRCA1/2 tüm gen dizi analiziyöntemiyle mutasyon tespit edilmeyen hastalardan BRCA1 ve BRCA2 geni delesyon dublikasyon analizive/ veya kansere yatkınlıkla ilişkilendirilen çoklu gen paneli çalışıldı.Bulgular: Herediter Meme ve/veya Over Kanseri ile ilişkili genetik etyolojiyi araştırdığımız buçalışmada BRCA ve non-BRCA genlerde %33.3 pozitif varyant saptandı. 20 hastada BRCA1 ve BRCA2genlerinde, 20 hastada ise non-BRCA genlerinde (ATM, CHEK2, RAD50, RAD51D, STK11, MSH6,First Received: 06.12.2021, Accepted: 04.01.2022doi: 10.5505/aot.2022.82246
Page 2 and 3: Acta Oncologica Turcica 2022EDITORI
Page 4 and 5: Acta Oncologica Turcica 20222should
Page 6 and 7: Acta Oncologica Turcica 20224KEYWOR
Page 8 and 9: Acta Oncologica Turcica 20226found
Page 12 and 13: Acta Oncologica Turcica 2022; 55: 7
Page 17: Acta Oncologica Turcica 2022; 55: 7
Page 60 and 61:
Acta Oncologica Turcica 2022; 55: 1
Page 62 and 63:
Page 64 and 65:
Page 66 and 67:
Page 68 and 69:
Page 70 and 71:
Page 72 and 73:
Page 74 and 75:
Page 76 and 77:
Page 78 and 79:
Page 80 and 81:
Page 82 and 83:
Page 84 and 85:
Page 86 and 87:
Page 88:
Page 91 and 92:
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
Page 101 and 102:
Page 103 and 104:
Page 105 and 106:
Page 107 and 108:
Page 109 and 110:
Page 111 and 112:
Page 113 and 114:
Page 115 and 116:
Page 117 and 118:
Page 119 and 120:
Page 121 and 122:
show all

aot2022v55i2

Create successful ePaper yourself

Delete template?

Save as template?