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New EPCAM founder deletion in Polish population |
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| Authors: | D Dymerska K Gołębiewska M Kuświk H Rudnicka RJ Scott R Billings A Pławski P Boruń M Siołek B Kozak‐Klonowska M Szwiec E Kilar T Huzarski T Byrski J Lubiński G Kurzawski |
| Institution: | 1. Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland;2. Discipline of Medical Genetics, University of Newcastle, Newcastle, Australia;3. Division of Genetics, John Hunter Hospital, Newcastle, Australia;4. Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland;5. Department of General, Endocrinological Surgery and Gastroenterological Oncology, Poznan University of Medical Sciences, Poznań, Poland;6. Holy Cross Cancer Center, Counselling Unit, Kielce, Poland;7. Regional Oncology Center, Counselling Unit, Opole, Poland;8. Regional Oncology Center, Counselling Unit, ?widnica, Poland |
| 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. |
| Keywords: | colorectal cancer EPCAM founder mutation Lynch syndrome |