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Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry.
Fostira, Florentia; Mollaki, Vasiliki; Lypas, George; Alexandrakis, George; Christianakis, Efstratios; Tzouvala, Maria; Zacharopoulou, Eirini; Kalfakakou, Despoina; Konstantopoulou, Irene; Yannoukakos, Drakoulis.
Afiliação
  • Fostira F; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece. Electronic address: florentia@rrp.demokritos.gr.
  • Mollaki V; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece.
  • Lypas G; 1st Oncology Clinic, Hygeia Hospital, Athens, Greece.
  • Alexandrakis G; Department of Gastroenterology, NIMTS Hospital, Athens, Greece.
  • Christianakis E; Department of Paediatric Surgery, General Children's Hospital of Penteli, Athens, Greece.
  • Tzouvala M; Department of Gastroenterology, General Hospital Nikaias, Piraeus, Greece.
  • Zacharopoulou E; Department of Gastroenterology, General Hospital Nikaias, Piraeus, Greece.
  • Kalfakakou D; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece.
  • Konstantopoulou I; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece.
  • Yannoukakos D; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece.
Cancer Genet ; 220: 19-23, 2018 01.
Article em En | MEDLINE | ID: mdl-29310834
ABSTRACT
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. PJS patients face a cumulative cancer risk as high as 93% for all sites combined. The present study reports the spectrum of STK11 mutations in eight families with clinical diagnosis of PJS, summarizes the clinical characteristics of sixteen mutation carriers and launches a National Registry for PJS in Greece. STK11 loss-of-function (LoF) mutations were detected in 87.5% of index patients. Carriers presented with their first manifestation at a median age of 24.9 years, while early-onset breast cancer was the most frequent malignancy observed, highlighting the need for breast surveillance. Out of the deleterious STK11 mutations identified, two were novel c.375_376delGT and c.676_679dupAACG, with 57.2% of these potentially occurring de novo. Using all available clinical and genetic data, the National Registry for Greek PJS was established in an attempt to better characterize the syndrome and raise awareness among patients and clinicians (available at https//www.peutzjeghersgreece.org). This is the first comprehensive genetic analysis and clinical characterization of Greek PJS patients, where a high incidence of breast cancer was observed and the first attempt to centralize all data in a National Registry.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Peutz-Jeghers / Testes Genéticos Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Cancer Genet Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Peutz-Jeghers / Testes Genéticos Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Cancer Genet Ano de publicação: 2018 Tipo de documento: Article