1. New EPCAM founder deletion in Polish population.
- Author
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Dymerska, D., Gołębiewska, K., Kuświk, M., Rudnicka, H., Scott, R.J., Billings, R., Pławski, A., Boruń, P., Siołek, M., Kozak-Klonowska, B., Szwiec, M., Kilar, E., Huzarski, T., Byrski, T., Lubiński, J., and Kurzawski, G.
- Subjects
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CANCER risk factors , *MOLECULAR biology , *COLON cancer , *PANCREATIC cancer , *GASTRIC juice - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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