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Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
Br J Cancer. 2001 Nov 02; 85(9):1368-71.BJ

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.

Authors+Show Affiliations

Institute of Oncology Rabin Medical Center, Beilinson Campus, Petach-Tikvah, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11720476

Citation

Figer, A, et al. "Phenotypic Characteristics of Colo-rectal Cancer in I1307K APC Germline Mutation Carriers Compared With Sporadic Cases." British Journal of Cancer, vol. 85, no. 9, 2001, pp. 1368-71.
Figer A, Shtoyerman-Chen R, Tamir A, et al. Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. Br J Cancer. 2001;85(9):1368-71.
Figer, A., Shtoyerman-Chen, R., Tamir, A., Geva, R., Irmin, L., Flex, D., Theodor, L., Sulkes, A., Sadetzki, S., Bar-Meir, S., & Friedman, E. (2001). Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. British Journal of Cancer, 85(9), 1368-71.
Figer A, et al. Phenotypic Characteristics of Colo-rectal Cancer in I1307K APC Germline Mutation Carriers Compared With Sporadic Cases. Br J Cancer. 2001 Nov 2;85(9):1368-71. PubMed PMID: 11720476.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases. AU - Figer,A, AU - Shtoyerman-Chen,R, AU - Tamir,A, AU - Geva,R, AU - Irmin,L, AU - Flex,D, AU - Theodor,L, AU - Sulkes,A, AU - Sadetzki,S, AU - Bar-Meir,S, AU - Friedman,E, PY - 2001/11/27/pubmed PY - 2002/1/5/medline PY - 2001/11/27/entrez SP - 1368 EP - 71 JF - British journal of cancer JO - Br. J. Cancer VL - 85 IS - 9 N2 - 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. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/11720476/Phenotypic_characteristics_of_colo_rectal_cancer_in_I1307K_APC_germline_mutation_carriers_compared_with_sporadic_cases_ L2 - http://dx.doi.org/10.1054/bjoc.2001.2093 DB - PRIME DP - Unbound Medicine ER -