Abstract:
: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.
journal_name
Cancer Resjournal_title
Cancer researchauthors
Cleary SP,Zhang W,Di Nicola N,Aronson M,Aube J,Steinman A,Haddad R,Redston M,Gallinger S,Narod SA,Gryfe Rsubject
Has Abstractpub_date
2003-04-15 00:00:00pages
1769-71issue
8eissn
0008-5472issn
1538-7445journal_volume
63pub_type
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