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ICARE Newsletter Winter 2021

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

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An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that “… it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.”2 Another subsequent report in 2008 based on additional information concluded that “… it is no longer reasonable to consider CHEK2 mutations to be a cause of Li-Fraumeni Syndrome.”3 Based on this information, CHEK2 is absolutely not considered a gene that causes Li-Fraumeni Syndrome.

1Bell, et al. Science. 1999 Dec. PMID: 10617473. 2Sodha, et al. Hum Mutat. 2002 Dec. PMID: 12442270. 3Evans, et al. J Med Genet. 2008 Jan. PMID: 18178638.

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