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The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

Lookup NU author(s): Professor Sir John Burn

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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.


Publication metadata

Author(s): Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, Van Den Bos R, De Snoo A, Fat GTA, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, Van Den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2003

Volume: 72

Issue: 5

Pages: 1308-1314

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1086/375121

DOI: 10.1086/375121

PubMed id: 12690581


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