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New EPCAM founder deletion in Polish population.
Dymerska, D; Golebiewska, K; Kuswik, M; Rudnicka, H; Scott, R J; Billings, R; Plawski, A; Borun, P; Siolek, M; Kozak-Klonowska, B; Szwiec, M; Kilar, E; Huzarski, T; Byrski, T; Lubinski, J; Kurzawski, G.
Afiliação
  • Dymerska D; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  • Golebiewska K; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  • Kuswik M; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  • Rudnicka H; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  • Scott RJ; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  • Billings R; Discipline of Medical Genetics, University of Newcastle, Newcastle, Australia.
  • Plawski A; Division of Genetics, John Hunter Hospital, Newcastle, Australia.
  • Borun P; Division of Genetics, John Hunter Hospital, Newcastle, Australia.
  • Siolek M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
  • Kozak-Klonowska B; Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznan, Poland.
  • Szwiec M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
  • Kilar E; Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznan, Poland.
  • Huzarski T; Holy Cross Cancer Center, Counselling Unit, Kielce, Poland.
  • Byrski T; Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznan, Poland.
  • Lubinski J; Holy Cross Cancer Center, Counselling Unit, Kielce, Poland.
  • Kurzawski G; Holy Cross Cancer Center, Counselling Unit, Kielce, Poland.
Clin Genet ; 92(6): 649-653, 2017 Dec.
Article em En | MEDLINE | ID: mdl-28369810
ABSTRACT
It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. Family members suffered almost exclusively from colorectal cancer; however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Pancreáticas / Neoplasias Gástricas / Sequência de Bases / Neoplasias Colorretais Hereditárias sem Polipose / Deleção de Sequência / Proteína 2 Homóloga a MutS / Molécula de Adesão da Célula Epitelial Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Polônia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Pancreáticas / Neoplasias Gástricas / Sequência de Bases / Neoplasias Colorretais Hereditárias sem Polipose / Deleção de Sequência / Proteína 2 Homóloga a MutS / Molécula de Adesão da Célula Epitelial Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Polônia