Jinekolojik Kanserlerde Yeni Nesil DNA Dizi Analizi ile Saptanan Mutasyon Profilleri: Tek Merkez Vaka Serisi Sonuçlarımız Article Swipe
Hacı Öztürk Şahin
,
Kübra Özkan
,
Burcu Albuz
,
Fatma Sılan
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.32708/uutfd.731913
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.32708/uutfd.731913
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.
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Jinekolojik Kanserlerde Yeni Nesil DNA Dizi Analizi ile Saptanan Mutasyon Profilleri: Tek Merkez Vaka Serisi SonuçlarımızWork title
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articleOpenAlex work type
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2020Year of publication
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2020-11-11Full publication date if available
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Hacı Öztürk Şahin, Kübra Özkan, Burcu Albuz, Fatma SılanList of authors in order
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https://doi.org/10.32708/uutfd.731913Publisher landing page
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Medicine, GynecologyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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| abstract_inverted_index.dahil | 92 |
| abstract_inverted_index.hepsi | 165 |
| abstract_inverted_index.panel | 110 |
| abstract_inverted_index.testi | 111, 116 |
| abstract_inverted_index.(HBOC) | 56 |
| abstract_inverted_index.(MLH1, | 100 |
| abstract_inverted_index.Ailevi | 113, 170 |
| abstract_inverted_index.ailevi | 109, 190 |
| abstract_inverted_index.bazlı | 71 |
| abstract_inverted_index.edildi | 163 |
| abstract_inverted_index.genden | 106 |
| abstract_inverted_index.geniş | 108, 191 |
| abstract_inverted_index.ilgiyi | 44 |
| abstract_inverted_index.kanser | 171 |
| abstract_inverted_index.olarak | 6 |
| abstract_inverted_index.ortaya | 209 |
| abstract_inverted_index.paneli | 115, 172 |
| abstract_inverted_index.tarama | 213 |
| abstract_inverted_index.tedavi | 35 |
| abstract_inverted_index.önemi | 136 |
| abstract_inverted_index.%21,4). | 169 |
| abstract_inverted_index.BRCA1/2 | 94 |
| abstract_inverted_index.EC’li | 148 |
| abstract_inverted_index.LS,%3.7 | 131 |
| abstract_inverted_index.OC’lu | 157, 175 |
| abstract_inverted_index.almış | 89 |
| abstract_inverted_index.analizi | 21 |
| abstract_inverted_index.genetik | 19, 39, 80 |
| abstract_inverted_index.geninde | 126, 182 |
| abstract_inverted_index.hastada | 135, 176 |
| abstract_inverted_index.içeren | 99 |
| abstract_inverted_index.kanseri | 12, 55 |
| abstract_inverted_index.oluşan | 107 |
| abstract_inverted_index.varyant | 138, 161 |
| abstract_inverted_index.(%40.7). | 142 |
| abstract_inverted_index.Sendromu | 59 |
| abstract_inverted_index.belirsiz | 137 |
| abstract_inverted_index.düşük | 63 |
| abstract_inverted_index.genlerin | 205 |
| abstract_inverted_index.izlendi. | 185 |
| abstract_inverted_index.mutasyon | 20, 24, 128, 139, 144, 151, 192 |
| abstract_inverted_index.rolünü | 208 |
| abstract_inverted_index.sebepler | 69 |
| abstract_inverted_index.tanısı | 14, 88 |
| abstract_inverted_index.yapılan | 82, 117, 146 |
| abstract_inverted_index.arasında | 79 |
| abstract_inverted_index.ardından | 18 |
| abstract_inverted_index.artışı | 41 |
| abstract_inverted_index.cerrahisi | 16 |
| abstract_inverted_index.gelişimi | 33 |
| abstract_inverted_index.genlerini | 97 |
| abstract_inverted_index.görülen | 48 |
| abstract_inverted_index.hastamız | 90 |
| abstract_inverted_index.herediter | 42, 49, 52 |
| abstract_inverted_index.mutasyonu | 154 |
| abstract_inverted_index.patolojik | 127, 150, 160, 183 |
| abstract_inverted_index.saptandı | 129 |
| abstract_inverted_index.taramayı | 72 |
| abstract_inverted_index.tarihleri | 78 |
| abstract_inverted_index.uygulanan | 22 |
| abstract_inverted_index.yıllarda | 30 |
| abstract_inverted_index.önleyici | 31 |
| abstract_inverted_index.azaltacak, | 200 |
| abstract_inverted_index.dışında | 34 |
| abstract_inverted_index.fırsatlar | 37 |
| abstract_inverted_index.genindeydi | 167 |
| abstract_inverted_index.görüldü | 141 |
| abstract_inverted_index.identifiye | 162 |
| abstract_inverted_index.kanserler; | 51 |
| abstract_inverted_index.kanserlere | 43 |
| abstract_inverted_index.Amacımız, | 0 |
| abstract_inverted_index.Birimimizde | 76 |
| abstract_inverted_index.bağımsız | 5 |
| abstract_inverted_index.hastamızda | 149, 158 |
| abstract_inverted_index.jinekolojik | 50, 206 |
| abstract_inverted_index.mutasyonlar | 184 |
| abstract_inverted_index.popülasyon | 70 |
| abstract_inverted_index.verilerinin | 193 |
| abstract_inverted_index.dışındaki | 204 |
| abstract_inverted_index.edilmiştir. | 93 |
| abstract_inverted_index.endometriyum | 11, 188 |
| abstract_inverted_index.hastamızda, | 120 |
| abstract_inverted_index.hikayesinden | 4 |
| abstract_inverted_index.literatürde | 196 |
| abstract_inverted_index.merkezimizde | 7 |
| abstract_inverted_index.oranlarını | 199 |
| abstract_inverted_index.paylaşımı | 197 |
| abstract_inverted_index.prevalansı, | 64 |
| abstract_inverted_index.saptanmadı. | 152 |
| abstract_inverted_index.çalışmaya | 91 |
| abstract_inverted_index.çoğalması | 194 |
| abstract_inverted_index.çıkartacak | 210 |
| abstract_inverted_index.Hastalığın | 62 |
| abstract_inverted_index.kanserlerdeki | 207 |
| abstract_inverted_index.kanserlerinde | 189 |
| abstract_inverted_index.stratejilerin | 32 |
| abstract_inverted_index.araştırması | 81, 145 |
| abstract_inverted_index.araştırılan | 155 |
| abstract_inverted_index.getirmektedir. | 75 |
| abstract_inverted_index.kullanışsız | 73 |
| abstract_inverted_index.pahalılığı | 66 |
| abstract_inverted_index.sekanslarını | 27 |
| abstract_inverted_index.sıklığını | 25 |
| abstract_inverted_index.değerlendirilen | 173 |
| abstract_inverted_index.çalışmaların | 40 |
| abstract_inverted_index.algoritmalarını | 214 |
| abstract_inverted_index.araştırmaktır. | 28 |
| abstract_inverted_index.arttırmıştır. | 45 |
| abstract_inverted_index.hastalarımızın | 23 |
| abstract_inverted_index.oluşturacaktır. | 215 |
| abstract_inverted_index.seçeneklerindeki | 36 |
| abstract_inverted_index.uygulanmıştır. | 112 |
| abstract_inverted_index.01.04.2018-01.10.2019 | 77 |
| cited_by_percentile_year | |
| countries_distinct_count | 1 |
| institutions_distinct_count | 4 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7599999904632568 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.18798988 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |