The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer.
Recently, a T-to-A transversion creating an 8-base mononucleotide tract in the APC gene, resulting in substitution of lysine for isoleucine at codon 1307 (I1307K), was found in a subset of Ashkenazi Jews. This sequence variant was most frequent in colorectal cancer patients with a positive family history of colorectal cancer. To determine whether the I1307K variant plays a role in colorectal or breast cancer predisposition in the Norwegian population, we have analyzed blood samples from 210 colorectal cancer patients and 183 breast cancer patients by PCR and direct sequencing. Thirty-seven of the colorectal cancer patients had a positive family history of cancer. Among the breast cancer patients, 24 had a family history of colorectal cancer and 75 a family history of breast and/or ovarian cancer. Only one colorectal cancer patient who belonged to a Jewish family was found to carry the A variant. Our data show that the I1307K variant is rare in the Norwegian population and should not be viewed as a candidate for susceptibility testing for colorectal cancer.
Lothe
R A
RA
Department of Genetics, The Norwegian Radium Hospital, Oslo. rlothe@radium.uio.no
Hektoen
M
M
Johnsen
H
H
Meling
G I
GI
Andersen
T I
TI
Rognum
T O
TO
Lindblom
A
A
Børresen-Dale
A L
AL
D000483:Alleles; D001943:Breast Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D017491:Genes, APC / Q000235:genetics*; D006801:Humans; D008297:Male; D009664:Norway / Q000453:epidemiology