| Literature DB >> 12690581 |
Hanne Meijers-Heijboer1, Juul Wijnen, Hans Vasen, Marijke Wasielewski, Anja Wagner, Antoinette Hollestelle, Fons Elstrodt, Renate van den Bos, Anja de Snoo, Grace Tjon A Fat, Cecile Brekelmans, Shantie Jagmohan, Patrick Franken, Paul Verkuijlen, Ans van den Ouweland, Pamela Chapman, Carli Tops, Gabriela Möslein, John Burn, Henry Lynch, Jan Klijn, Riccardo Fodde, Mieke Schutte.
Abstract
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 with 4% of 380 families with non-HBCC (P<.001), thus providing genetic evidence for the HBCC phenotype. The CHEK2 1100delC mutation was, however, not the major predisposing factor for the HBCC phenotype but appeared to act in synergy with another, as-yet-unknown susceptibility gene(s). The unequivocal definition of the HBCC phenotype opens new avenues to search for this putative HBCC-susceptibility gene.Entities:
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Year: 2003 PMID： 12690581 PMCID： PMC1180284 DOI： 10.1086/375121
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025