L. Petrukhin et al., THE I1307K APC MUTATION DOES NOT PREDISPOSE TO COLORECTAL-CANCER IN JEWISH ASHKENAZI BREAST AND BREAST-OVARIAN CANCER KINDREDS, Cancer research, 57(24), 1997, pp. 5480-5484
An increased incidence of colorectal canter has been observed in breas
t and breast-ovarian cancer syndrome families, including those of Ashk
enazi origin, Recently, a germ-line missense mutation in the APC gene,
11307K, was identified that may indirectly cause colorectal cancer in
Ashkenazi Jews, To determine whether the excess of colon cancer in so
me breast-ovarian cancer families is related to the I1307K mutation, w
e evaluated 264 Ashkenazi Jews from 158 families, Most of these indivi
duals had either a personal or a family history of breast and/or ovari
an cancer, and 19.3% (51 of 264) carried one of the recurrent BRCA1 (1
85delAG or 5382 insC) or BRCA2 (6173delT) mutations, We detected the A
PC I1307K mutation in 7% (11 of 158) of the Ashkenazi Jewish Families
and in 4.5% (12 of 264) of the individuals participating in these stud
ies, OF the families studied, 26.6% (42 of 158) had at least one case
of colorectal cancer in a first-, second-, or third-degree relative of
the proband, Significantly, of the 12 individuals who possessed the I
1307K mutation, none was diagnosed with colorectal cancer and none had
a known first-, second-, or third-degree relative diagnosed with colo
n cancer, The results suggest that factors other than the I1307K mutat
ion contribute to the increased incidence of colon cancer in Ashkenazi
breast-ovarian cancer families, Our results emphasize that only a sub
set of Ashkenazi Jewish individuals with a family history of colorecta
l cancer should be viewed as candidates for genetic susceptibility tes
ting for the I1307K APC mutation.