Article
CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors.
Gynecologic oncology - 1 Sept 2006
Szymanska-Pasternak J, Szymanska A, Medrek K, Imyanitov E N, Cybulski C, Gorski B, Magnowski P, Dziuba I, Gugala K, Debniak B, Gozdz S, Sokolenko A P, Krylova N Y, Lobeiko O S, Narod S A, Lubinski J
Abstract excerpt
OBJECTIVE: Three founder alleles of the CHEK2 gene have been associated with predisposition to a range of cancer types in Poland. Two founder alleles (1100delC and IVS2 + 1G >A) result in a truncated CHEK2 protein and the other is a missense substitution, leading to the replacement of a threonine with an isoleucine (I157T). METHODS: To establish if these variants play a role in the etiology of ovarian tumors, we...
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