New EPCAM founder deletion in Polish population. Issue 6 (3rd August 2017)

• Record Type: Journal Article
• Authors: 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.; Kurzawski, G.
• Is Part Of: Clinical genetics. Volume 92:Issue 6(2017)
• Page Start: 649
• Page End: 653
• Publication Date: 2017-08-03
• Subjects: colorectal cancer -- EPCAM -- founder mutation -- Lynch syndrome; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13026
• Languages: English
• ISSNs: 0009-9163

Abstract

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 :