Identification of candidate genes in a family with cancer overload by whole-exome sequencing

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dc.authoridhttps://orcid.org/0000-0002-2271-8481en_US
dc.authoridhttps://orcid.org/0000-0003-4344-8174en_US
dc.authoridhttps://orcid.org/0000-0001-8976-4450en_US
dc.authoridhttps://orcid.org/0000-0001-7923-275Xen_US
dc.authoridhttps://orcid.org/0000-0001-8023-3223en_US
dc.authoridhttps://orcid.org/0000-0003-4417-4005en_US
dc.authoridhttps://orcid.org/0000-0002-0893-1251en_US
dc.authoridhttps://orcid.org/0000-0002-2539-4662en_US
dc.authoridhttps://orcid.org/0000-0002-8919-0482en_US
dc.contributor.authorAkdeniz Ödemiş, Demet
dc.contributor.authorKebudi, Rejin
dc.contributor.authorHassani, Masoumeh
dc.contributor.authorÇelik, Betül
dc.contributor.authorTuncer, Şeref Buğra
dc.contributor.authorKılıç Erciyas, Seda
dc.contributor.authorŞükrüoğlu Erdoğan, Özge
dc.contributor.authorBüyükkapu Bay, Sema
dc.contributor.authorYazıcı, Hülya
dc.date.accessioned2023-10-24T10:19:30Z
dc.date.available2023-10-24T10:19:30Z
dc.date.issued2022en_US
dc.departmentSağlık Hizmetleri Meslek Yüksekokuluen_US
dc.description.abstractBackground. Approximately 120 out of every 1 million children in the world develop cancer each year. In Turkey, 2500-3000 children are diagnosed with new cancer each year. The causes of childhood cancer have been studied for many years. It is known that many cancers in children, as in adults, cause uncontrolled cell growth, and develop as a result of mutations in genes that cause cancer. Methods. The investigation of family history within this context in the study, a total of 13 individuals consisting of all children and adults in the family were examined using the whole-exome sequencing (WES) with the individuals who were diagnosed with cancer in the family, who were detected to have different cancer profiles, and defined as high risk and to determine the gene or genes through which the disease has developed. Results. At the end of the study, a total of 30 variants with a pathogenic record in the family were identified. A total of 10 pathogenic variants belonging to 8 different genes from these variants have been associated with various cancer risks. Conclusions. A significant scientific contribution has been made to the mechanism of disease formation by studying a family with a high cancer burden and by finding the genes associated with the disease. In addition, by the results obtained, family members with cancer predisposition were selected after a risk analysis conducted in this family, and the necessary examinations and scans were recommended to provide an early diagnostic advantage.en_US
dc.identifier.doi10.24953/turkjped.2021.4872en_US
dc.identifier.endpage465en_US
dc.identifier.issn0041-4301
dc.identifier.issue3en_US
dc.identifier.pmid35899558en_US
dc.identifier.scopus2-s2.0-85134784056en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage451en_US
dc.identifier.trdizinid1138931en_US
dc.identifier.urihttps://hdl.handle.net/11363/6038
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1138931
dc.identifier.urihttps://doi.org/
dc.identifier.volume64en_US
dc.identifier.wosWOS:000830892400004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorHassani, Masoumeh
dc.language.isoenen_US
dc.publisherTURKISH J PEDIATRICS, P K 66 SAMANPAZARI, 06240 ANKARA, TURKEYen_US
dc.relation.ispartofThe Turkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subjectcanceren_US
dc.subjectgene mutationen_US
dc.subjectcandidate genesen_US
dc.subjectwhole exome sequencingen_US
dc.titleIdentification of candidate genes in a family with cancer overload by whole-exome sequencingen_US
dc.typeArticleen_US

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