- Title
- New EPCAM founder deletion in Polish population
- Creator
- Dymerska, D.; Gołębiewska, K.; Szwiec, M.; Kilar, E.; Huzarski, T.; Byrski, T.; Lubiński, J.; Kurzawski, G.; Kuświk, M.; Rudnicka, H.; Scott, R. J.; Billings, R.; Pławski, A.; Boruń, P.; Siołek, M.; Kozak-Klonowska, B.
- Relation
- Clinical Genetics Vol. 92, Issue 6, p. 649-653
- Publisher Link
- http://dx.doi.org/10.1111/cge.13026
- Publisher
- Wiley-Blackwell
- Resource Type
- journal article
- Date
- 2017
- Description
- 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 8.7kb (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.
- Subject
- colorectal cancer; EPCAM; founder mutation; Lynch syndrome
- Identifier
- http://hdl.handle.net/1959.13/1399734
- Identifier
- uon:34658
- Identifier
- ISSN:0009-9163
- Language
- eng
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