Heterozygosity for the BLM(Ash) mutation and cancer risk.

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 Res

journal_title

Cancer research

authors

Cleary SP,Zhang W,Di Nicola N,Aronson M,Aube J,Steinman A,Haddad R,Redston M,Gallinger S,Narod SA,Gryfe R

subject

Has Abstract

pub_date

2003-04-15 00:00:00

pages

1769-71

issue

8

eissn

0008-5472

issn

1538-7445

journal_volume

63

pub_type

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