title: New EPCAM founder deletion in Polish population.
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.
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Dymerska
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: K
authors.initials: K
authors.lastname: Gołębiewska
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Kuświk
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: H
authors.initials: H
authors.lastname: Rudnicka
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.|Discipline of Medical Genetics, University of Newcastle, Newcastle, Australia.|Division of Genetics, John Hunter Hospital, Newcastle, Australia.
authors.forename: R J
authors.initials: RJ
authors.lastname: Scott
authors.affiliation: Division of Genetics, John Hunter Hospital, Newcastle, Australia.
authors.forename: R
authors.initials: R
authors.lastname: Billings
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.|Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznań, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Pławski
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
authors.forename: P
authors.initials: P
authors.lastname: Boruń
authors.affiliation: Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznań, Poland.|Holy Cross Cancer Center, Counselling Unit, Kielce, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Siołek
authors.affiliation: Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznań, Poland.|Holy Cross Cancer Center, Counselling Unit, Kielce, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Kozak-Klonowska
authors.affiliation: Holy Cross Cancer Center, Counselling Unit, Kielce, Poland.|Regional Oncology Center, Counselling Unit, Opole, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Szwiec
authors.affiliation: Regional Oncology Center, Counselling Unit, Opole, Poland.|Regional Oncology Center, Counselling Unit, Świdnica, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Kilar
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Huzarski
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Byrski
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Lubiński
authors.affiliation: Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: G
authors.initials: G
authors.lastname: Kurzawski
mesh_terms: D000328:Adult; D001483:Base Sequence; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000071858:Epithelial Cell Adhesion Molecule / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D015870:Gene Expression; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D011044:Poland; D017384:Sequence Deletion; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: C499379:EPCAM protein, human; D000071858:Epithelial Cell Adhesion Molecule; C501486:MLH1 protein, human; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
keywords: 
  EPCAM; Lynch syndrome; colorectal cancer; founder mutation