Regular Article

British Journal of Cancer (2001) 85, 1368–1371. doi:10.1054/bjoc.2001.2093 www.bjcancer.com
Published online 30 October 2001

Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases

A Figer1, R Shtoyerman-Chen2, A Tamir5, R Geva1, L Irmin1,4, D Flex1, L Theodor2, A Sulkes1, S Sadetzki3, S Bar-Meir2 and E Friedman4

  1. 1Institute of Oncology Rabin Medical Center, Beilinson Campus, Petach-Tikvah
  2. 2Department of Gastroenterology, Tel-Hashomer, 52621 and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
  3. Cancer Epidemiology Unit, Gertner Institute of Public Health, Tel-Hashomer, 52621 and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
  4. 4Susanne-Levy Gertner Oncogenetics Unit, Danek Gertner Institute of Genetics, Sheba Medical Center, Tel-Hashomer, 52621 and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
  5. 5Department of Epidemiology, Carmel Medical Center, Haifa, Israel

Received 15 May 2001; Revised 1 August 2001; Accepted 7 August 2001.

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Abstract

The I1307K APC germline mutation is associated with an increased risk to colo-rectal cancer (CRC). Whether and to what extent the phenotype of CRC in mutation carriers differs from sporadic cases, remains unknown. To gain insight into this issue, we analysed 307 unselected Israeli patients with CRC, who were treated in a single medical centre, for harbouring the I1307K mutation. Twenty-eight mutation carriers (9.1%) were detected. Two of 28 mutation carriers (7.1%) and 93/277 (33.6%) of non-carriers, were of non-Ashkenazi origin (P< 0.01). In 74/278 (26.6%) of the sporadic cases, and only 1/28 (3.6%) of mutation carriers (3.6%) the tumour was located in the right colon (P< 0.01). Mutation carriers had a more advanced disease stage (14/28 – 50% Dukes C), as compared with 60 (19.5%) of non-carriers (P= 0.02). The mean age at diagnosis was similar: 65 (+/– 9.7) years and 66.3 (+/– 11.6) years, for mutation carriers and non-carriers, respectively. No statistical differences were noted between the two groups in sex distribution, tumour grade, and family history of cancer. We conclude that early age at diagnosis and family history of cancer cannot be used to predict who is likely to harbour the I1307K APC germline mutation carriers. However, the tumours in patients with this mutation appear different than those without, are less likely to be proximal and more likely to be advanced than tumours in non-carriers. © 2001 Cancer Research Campaign http://www.bjcancer.com

Keywords:

inherited predisposition to cancer, I1307K APC mutation, phenotype

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