Article
Mutation spectrum in HNPCC in the Israeli population.
Familial cancer - 1 Jan 2008
Goldberg Yael, Porat Rinnat M, Kedar Inbal, Shochat Chen, Sagi Michal, Eilat Avital, Mendelson Suzan, Hamburger Tamar, Nissan Aviram, Hubert Ayala, Kadouri Luna, Pikarski Eli, Lerer Israela, Abeliovich Dvorah, Bercovich Dani, Peretz Tamar
Abstract excerpt
Hereditary non-polyposis colon cancer is caused by mutations in DNA mismatch repair genes. The mutation spectrum in the Israeli population is poorly documented except for the c.1906G>C Ashkenazi founder mutation in the hMSH2 gene. To report our experience in HNPCC screening, the mutations detected and the clinical features among a cohort of Israeli patients. Diagnostic work-up was done in a multi-step process...
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