Article
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
American journal of human genetics - 1 May 2003
Meijers-Heijboer Hanne, Wijnen Juul, Vasen Hans, Wasielewski Marijke, Wagner Anja, Hollestelle Antoinette, Elstrodt Fons, van den Bos Renate, de Snoo Anja, Fat Grace Tjon A, Brekelmans Cecile, Jagmohan Shantie, Franken Patrick, Verkuijlen Paul, van den Ouweland Ans, Chapman Pamela, Tops Carli, Möslein Gabriela, Burn John, Lynch Henry, Klijn Jan, Fodde Riccardo, Schutte Mieke
Abstract excerpt
Because of genetic heterogeneity, the identification of breast cancer-susceptibility genes has proven to be exceedingly difficult. Here, we define a new subset of families with breast cancer characterized by the presence of colorectal cancer cases. The 1100delC variant of the cell cycle checkpoint kinase CHEK2 gene was present in 18% of 55 families with hereditary breast and colorectal cancer (HBCC) as compared...
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