title: 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.
authors.affiliation: Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: Sean P
authors.initials: SP
authors.lastname: Cleary
authors.forename: William
authors.initials: W
authors.lastname: Zhang
authors.forename: Nando
authors.initials: N
authors.lastname: Di Nicola
authors.forename: Melyssa
authors.initials: M
authors.lastname: Aronson
authors.forename: Jennifer
authors.initials: J
authors.lastname: Aube
authors.forename: Amanda
authors.initials: A
authors.lastname: Steinman
authors.forename: Riad
authors.initials: R
authors.lastname: Haddad
authors.forename: Mark
authors.initials: M
authors.lastname: Redston
authors.forename: Steven
authors.initials: S
authors.lastname: Gallinger
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
authors.forename: Robert
authors.initials: R
authors.lastname: Gryfe
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001816:Bloom Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation