This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Cleary, S. P. Articles by Gryfe, R. Search for Related Content PubMed PubMed Citation Articles by Cleary, S. P. Articles by Gryfe, R.

Heterozygosity for the BLM^Ash Mutation and Cancer Risk¹

Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital [S. P. C., N. D., A. S., R. H., S. G., R. G.], Department of Surgery [S. P. C., M. A., R. H., S. G., R. G.], Centre for Research in Women’s Health, Sunnybrook and Women’s College Health Sciences Centre [W. Z., J. A., S. A. N.], University of Toronto, Toronto, Ontario, M5G 1X5, Canada, and Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts [M. R.]

Bloom syndrome is an autosomal recessive disorder whose characteristics include an increased risk for many types of cancers. In contrast to the homozygous mutations of Bloom syndrome, heterozygous carriers of BLM mutations may be at increased risk for developing colorectal cancer. We have screened 2,333 Jewish individuals, including 497 individuals with colorectal cancer, 125 with adenomatous polyps, 767 with noncolorectal cancers and 944 controls for the truncating BLM^Ash founder mutation. The BLM^Ash mutation was carried by 0.80% of individuals with colorectal neoplasia, 0.87% of those with any type of cancer and 0.85% of controls. In addition to case-control data, we found no evidence to support a significant relationship between increased cancer risk and heterozygous BLM^Ash mutations with respect to age of cancer diagnosis, tumor multiplicity or family cancer history.

This article has been cited by other articles:

				Z. Kemp, C. Thirlwell, O. Sieber, A. Silver, and I. Tomlinson An update on the genetics of colorectal cancer Hum. Mol. Genet., October 1, 2004; 13(suppl_2): R177 - R185. [Abstract] [Full Text] [PDF]