title: The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features.
abstract: Colorectal cancer is common in Ashkenazi Jews. The I1307K APC mutation occurs in 6-7% of Ashkenazi Jews and increases the risk of colorectal cancer. This study aimed to describe the clinical, pathologic and epidemiologic features of colorectal cancer in I1307K carriers to determine whether there were any features which might warrant individual screening for the mutation. In all, 215 Ashkenazi Jews with a personal history of colorectal cancer were enrolled. Clinical and family history, pathology reports, and slides were obtained and blood drawn for I1307K determination. The presence of the mutation was determined by PCR from white blood cell DNA. Colorectal cancer pathology slides were read in a blinded fashion. Of the 215 enrolled patients, 26 (12.1%) tested positive for I1307K. There was no difference in the pathologic features between colorectal cancers in Ashkenazi carriers compared to noncarriers. There was no difference in the age at diagnosis or history of second or other primaries. Carriers had an increased likelihood of having a first-degree relative with colorectal cancer (50%) compared to noncarriers (28%, P < 0.04). We could find no distinguishing feature other than family history that characterizes I1307K positive colorectal cancers. We could find no group of Ashkenazi Jews with colorectal cancer for whom screening for I1307K would be clinically useful.
authors.affiliation: Evanston Northwestern Healthcare, Feinberg School of Medicine, Northwestern University, 2650 Ridge Ave, Evanston, IL 60201, USA. gylocker@northwestern.edu
authors.forename: Gershon Y
authors.initials: GY
authors.lastname: Locker
authors.forename: Karen
authors.initials: K
authors.lastname: Kaul
authors.forename: David S
authors.initials: DS
authors.lastname: Weinberg
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gatalica
authors.forename: Gordon
authors.initials: G
authors.lastname: Gong
authors.forename: Amy
authors.initials: A
authors.lastname: Peterman
authors.forename: Jane
authors.initials: J
authors.lastname: Lynch
authors.forename: Lucy
authors.initials: L
authors.lastname: Klatzco
authors.forename: Olufunmilayo I
authors.initials: OI
authors.lastname: Olopade
authors.forename: Charles A
authors.initials: CA
authors.lastname: Bomzer
authors.forename: Anna
authors.initials: A
authors.lastname: Newlin
authors.forename: Eileen
authors.initials: E
authors.lastname: Keenan
authors.forename: Mohammed
authors.initials: M
authors.lastname: Tajuddin
authors.forename: Joseph
authors.initials: J
authors.lastname: Knezetic
authors.forename: Stephanie
authors.initials: S
authors.lastname: Coronel
authors.forename: Henry T
authors.initials: HT
authors.lastname: Lynch
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D017491:Genes, APC; D006580:Genetic Carrier Screening; D006801:Humans; D007585:Jews / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic