Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Cancer
Published in: BMC Cancer 1/2006

Open Access 01-12-2006 | Research article

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan

Authors: Shee-Ping Chen, Shih-Tzu Tsai, Shu-Wen Jao, Yen-Lun Huang, Yu-Chen Chao, Yi-Lin Chen, Chang-Chieh Wu, Shinn-Zong Lin, Horng-Jyh Harn

Published in: BMC Cancer | Issue 1/2006

Login to get access

Abstract

Background

Colorectal cancer (CRC), which has become especially prevalent in developed countries, is currently the third highest cause of cancer mortality in Taiwan. Mutation of the adenomatous polyposis coli (APC) gene, a tumour suppressor, is thought to be an early event in colorectal tumourigenesis. To date, however, no large-scale screening for APC gene variants in Chinese subjects has been performed. The present study was undertaken to identify APC gene variants that are significantly associated with the occurrence of CRC in Taiwanese subjects.

Methods

In order to compare the genotype distribution of variant sites, the full-length APC genes of 74 healthy individuals and 80 CRC patients were sequenced.

Results

Among the 154 Taiwanese subjects examined in this study, three new mutations, but no previously reported mutations, were found. One deletion at codon 460 leading to a frameshift and two missense mutations resulting in p.V1125A and p.S1126R substitutions were identified. Additionally, three high risk genotypes associated with three single nucleotide polymorphisms and one low risk genotype at codon 1822 were identified.

Conclusion

The findings of this case-control study are consistent with the proposal that Taiwanese subjects differ from other subjects with respect to phenotypic presentation of APC and CRC risk.
Appendix
Available only for authorised users
Literature
1.
Jemal A, Murray T, Ward E, Samuels A, Tiwari RC, Ghafoor A, Feuer EJ, Thun MJ: Cancer statistics. CA Cancer J Clin. 2005, 55: 10-30.CrossRefPubMed
2.
Weitz J, Koch M, Debus J, Hohler T, Galle PR, Buchler MW: Colorectal cancer. Lancet. 2005, 365: 153-165. 10.1016/S0140-6736(05)17706-X.CrossRefPubMed
3.
Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M: Identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 1991, 66: 601-613. 10.1016/0092-8674(81)90022-2.CrossRefPubMed
4.
Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D: Identification of FAP locus genes from chromosome 5q21. Science. 1991, 253: 661-665.CrossRefPubMed
5.
6.
Lamlum H, Papadopoulou A, Ilyas M, Rowan A, Gillet C, Hanby A, Talbot I, Bodmer W, Tomlinson I: APC mutations are sufficient for the growth of early colorectal adenomas. Proc Natl Acad Sci U S A. 2000, 97: 2225-2228. 10.1073/pnas.040564697.CrossRefPubMedPubMedCentral
7.
Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J: Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat. 1994, 3: 121-125. 10.1002/humu.1380030206.CrossRefPubMed
8.
Fearnhead NS, Britton MP, Bodmer WF: The ABC of APC. Hum Mol Genet. 2001, 10: 721-733. 10.1093/hmg/10.7.721.CrossRefPubMed
9.
Laurent-Puig P, Beroud C, Soussi T: APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res. 1998, 26: 269-270. 10.1093/nar/26.1.269.CrossRefPubMedPubMedCentral
10.
Frayling IM, Beck NE, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell JA, Williams CB, Hodgson SV, Thomas HJ, Talbot IC, Bodmer WF, Tomlinson IP: The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci U S A. 1998, 95: 10722-10727. 10.1073/pnas.95.18.10722.CrossRefPubMedPubMedCentral
11.
Lamlum H, Al Tassan N, Jaeger E, Frayling I, Sieber O, Reza FB, Eckert M, Rowan A, Barclay E, Atkin W, Williams C, Gilbert J, Cheadle J, Bell J, Houlston R, Bodmer W, Sampson J, Tomlinson I: Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Hum Mol Genet. 2000, 9: 2215-2221.CrossRefPubMed
12.
Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I: Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol. 2002, 160: 2055-2061.CrossRefPubMedPubMedCentral
13.
Kinzler KW, Vogelstein B: Lessons from hereditary colorectal cancer. Cell. 1996, 87: 159-170. 10.1016/S0092-8674(00)81333-1.CrossRefPubMed
14.
Miyoshi Y, Nagase H, Ando H, Horii A, Ichii S, Nakatsuru S, Aoki T, Miki Y, Mori T, Nakamura Y: Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet. 1992, 1: 229-233.CrossRefPubMed
15.
Wei SC, Su YN, Tsai-Wu JJ, Wu CH, Huang YL, Sheu JC, Wang CY, Wong JM: Genetic analysis of the APC gene in Taiwanese familial adenomatous polyposis. J Biomed Sci. 2004, 11: 260-265.CrossRefPubMed
16.
Hall T: Ibis Therapeutics Carlsbad CA. 9200
17.
Wallis YL, Morton DG, McKeown CM, Macdonald F: Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet. 1999, 36: 14-20.PubMedPubMedCentral
18.
Ruiz-Ponte C, Vega A, Conde R, Barros F, Carracedo A: The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications. J Med Genet. 2001, 38: E33-10.1136/jmg.38.10.e33.CrossRefPubMedPubMedCentral
19.
Tranah GJ, Giovannucci E, Ma J, Fuchs C, Hunter DJ: APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. Cancer Epidemiol Biomarkers Prev. 2005, 14: 863-870. 10.1158/1055-9965.EPI-04-0687.CrossRefPubMed
20.
Guo J, Lim R, Soo R, Leong A, Lee SC: APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients. Genet Med. 2004, 6: 237-238.CrossRefPubMed
21.
Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991, 253: 665-669.CrossRefPubMed
22.
Slattery ML, Samowitz W, Ballard L, Schaffer D, Leppert M, Potter JD: A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer. Cancer Res. 2001, 61: 1000-1004.PubMed
Metadata
Title
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan
Authors
Shee-Ping Chen
Shih-Tzu Tsai
Shu-Wen Jao
Yen-Lun Huang
Yu-Chen Chao
Yi-Lin Chen
Chang-Chieh Wu
Shinn-Zong Lin
Horng-Jyh Harn
Publication date
01-12-2006
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2006
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/1471-2407-6-83

Other articles of this Issue 1/2006

BMC Cancer 1/2006 Go to the issue

Research article

Increased tartrate-resistant acid phosphatase (TRAP) expression in malignant breast, ovarian and melanoma tissue: an investigational study

Research article

Early prediction of therapy response in patients with acute myeloid leukemia by nucleosomal DNA fragments

Case report

Gastro-intestinal symptoms as clinical manifestation of peritoneal and retroperitoneal spread of an invasive lobular breast cancer: report of a case and review of the literature

Research article

Fusion of the BCL9 HD2 domain to E1A increases the cytopathic effect of an oncolytic adenovirus that targets colon cancer cells

Research article

Phase II trial of sequential gefitinib after minor response or partial response to chemotherapy in Chinese patients with advanced non-small-cell lung cancer

Research article

AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits