Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
April-2017 Volume 13 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
April-2017 Volume 13 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis

  • Authors:
    • Haishan Li
    • Lingling Zhang
    • Quan Jiang
    • Zhenwang Shi
    • Hanxing Tong
  • View Affiliations / Copyright

    Affiliations: Department of Emergency, The Second People's Hospital of Hefei, Hefei, Anhui 230601, P.R. China, Department of Oncology, Binzhou People's Hospital, Binzhou, Shandong 256600, P.R. China, Department of General Surgery, Zhongshan Hospital, Fu Dan University, Shanghai 200032, P.R. China, Department of Gastroenterology, The Second People's Hospital of Hefei, Hefei, Anhui 230601, P.R. China
  • Pages: 1495-1499
    |
    Published online on: February 14, 2017
       https://doi.org/10.3892/etm.2017.4122
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Familial adenomatous polyposis (FAP; Mendelian of Inherintance in Man ID, 175100) is a rare autosomal dominant disorder characterized by the development of numerous adenomatous polyps throughout the colon and rectum associated with an increased risk of colorectal cancer. FAP is at time accompanied with certain extraintestinal manifestations such as congenital hypertrophy of the retinal pigment epithelium, dental disorders and desmoid tumors. It is caused by mutations in the adenomatous polyposis coli (APC) gene. The present study reported on a Chinese family with FAP. Polymerase chain reaction and direct sequencing of the full coding sequence of the APC gene were performed to identify the mutation in this family. A nonsense mutation of the APC gene was identified in this pedigree. It is a heterozygous G>T substitution at position 2,971 in exon 15 of the APC gene, which formed a premature stop codon at amino acid residue 991 (p.Glu991*). The resulting truncated protein lacked 1,853 amino acids. The present study expanded the database on APC gene mutations in FAP and enriched the spectrum of known germline mutations of the APC gene. Prophylactic proctocolectomy may be considered as a possible treatment for carriers of the mutation.
View Figures

Figure 1

Figure 2

Figure 3

View References

1 

Rhodes M and Bradburn DM: Overview of screening and management of familial adenomatous polyposis. Gut. 33:125–131. 1992. View Article : Google Scholar : PubMed/NCBI

2 

Martellucci J, Civitelli S, Dhamo A and Tanzini G: Familial colorectal cancer: A concept revisited. Colorectal Dis. 11:133–137. 2009. View Article : Google Scholar : PubMed/NCBI

3 

Li FP, Thurber WA, Seddon J and Holmes GE: Hepatoblastoma in families with polyposis coli. JAMA. 257:2475–2477. 1987. View Article : Google Scholar : PubMed/NCBI

4 

Gibbons DC, Sinha A, Phillips RK and Clark SK: Colorectal cancer: No longer the issue in familial adenomatous polyposis? Fam Cancer. 10:11–20. 2011. View Article : Google Scholar : PubMed/NCBI

5 

Aretz S: The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes. Dtsch Arztebl Int. 107:163–173. 2010.PubMed/NCBI

6 

Snow AK, Tuohy TM, Sargent NR, Smith LJ, Burt RW and Neklason DW: APC promoter 1B deletion in seven American families with familial adenomatous polyposis. Clin Genet. 88:360–365. 2015. View Article : Google Scholar : PubMed/NCBI

7 

Inra JA, Steyerberg EW, Grover S, McFarland A, Syngal S and Kastrinos F: Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. Genet Med. 17:815–821. 2015. View Article : Google Scholar : PubMed/NCBI

8 

Li M, Yang L, Li C, Jin C, Lai M, Zhang G, Hu Y, Ji J and Yao Z: Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria. Arch Dermatol Res. 302:469–476. 2010. View Article : Google Scholar : PubMed/NCBI

9 

Plawski A, Banasiewicz T, Borun P, Kubaszewski L, Krokowicz P, Skrzypczak-Zielinska M and Lubinski J: Familial adenomatous polyposis of the colon. Hered Cancer Clin Pract. 11:152013. View Article : Google Scholar : PubMed/NCBI

10 

Liao DX, Li B, Du XM, Yu JH, Chang H, Wu ZQ, Hao HJ, Wang YX, Han WD, Cheng SJ and Luo CH: Two Chinese pedigrees for adenomatous polyposis coli: New mutations at codon 1309 and predisposition to phenotypic variations. Fam Cancer. 13:361–368. 2014. View Article : Google Scholar : PubMed/NCBI

11 

Half E, Bercovich D and Rozen P: Familial adenomatous polyposis. Orphanet J Rare Dis. 4:222009. View Article : Google Scholar : PubMed/NCBI

12 

Tang C, Guo J, Chen H, Yao CJ, Zhuang DX, Wang Y, Tang WJ, Ren G, Yao Y, Wu JS, et al: Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by 1H-magnetic resonance spectroscopy. Int J Clin Exp Pathol. 8:5327–5335. 2015.PubMed/NCBI

13 

Chen QW, Zhang XM, Zhou JN, Zhou X, Ma GJ, Zhu M, Zhang YY, Yu J, Feng JF and Chen SQ: Analysis of small fragment deletions of the APC gene in Chinese patients with familial adenomatous polyposis, a precancerous condition. Asian Pac J Cancer Prev. 16:4915–4920. 2015. View Article : Google Scholar : PubMed/NCBI

14 

Qiu T, Guo H, Zhao H, Wang L and Zhang Z: Next-generation sequencing for molecular diagnosis of lung adenocarcinoma specimens obtained by fine needle aspiration cytology. Sci Rep. 5:113172015. View Article : Google Scholar : PubMed/NCBI

15 

Chen K, Xia G, Zhang C and Sun Y: Correlation between smoking history and molecular pathways in sporadic colorectal cancer: A meta-analysis. Int J Clin Exp Med. 8:3241–3257. 2015.PubMed/NCBI

16 

Zhang Y, Lu G, Hu Q, Wang X, Li C, Mao Y and Cui M: A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing. Biochem Biophys Res Commun. 447:503–507. 2014. View Article : Google Scholar : PubMed/NCBI

17 

Song G, Yuan Y, Zheng F and Yang N: Novel insertion mutation p. Asp610GlyfsX23 in APC gene causes familial adenomatous polyposis in Chinese families. Gene. 516:204–208. 2013. View Article : Google Scholar : PubMed/NCBI

18 

De Queiroz Rossanese LB, De Lima Marson FA, Ribeiro JD, Coy CS and Bertuzzo CS: APC germline mutations in families with familial adenomatous polyposis. Oncol Rep. 30:2081–2088. 2013.PubMed/NCBI

19 

Järvinen HJ and Peltomäki P: The complex genotype-phenotype relationship in familial adenomatous polyposis. Eur J Gastroenterol Hepatol. 16:5–8. 2004. View Article : Google Scholar : PubMed/NCBI

20 

Giardiello FM, Krush AJ, Petersen GM, Booker SV, Kerr M, Tong LL and Hamilton SR: Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation. Gastroenterology. 106:1542–1547. 1994. View Article : Google Scholar : PubMed/NCBI

21 

Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T and Nakamura Y: Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res. 52:4055–4057. 1992.PubMed/NCBI

22 

Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T, Augustin A, Kadmon M, Möslein G, Thomas G, et al: Familial adenomatous polyposis: Desmoids tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet. 4:337–340. 1995. View Article : Google Scholar : PubMed/NCBI

23 

Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z and Bapat B: Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet. 62:1290–1301. 1998. View Article : Google Scholar : PubMed/NCBI

24 

Touriño R, Conde-Freire R, Cabezas-Agrícola JM, Rodríguez-Aves T, López-Valladares MJ, Otero-Cepeda JL and Capeans C: Value of the congenital hypertrophy of the retinal pigment epithelium in the diagnosis of familial adenomatous polyposis. Int Ophthalmol. 25:101–112. 2004. View Article : Google Scholar : PubMed/NCBI

25 

Zeichner SB, Raj N, Cusnir M, Francavilla M and Hirzel A: A de novo germline APC mutation (3927del5) in a patient with familial adenomatous polyposis: Case report and literature review. Clin Med Insights Oncol. 6:315–323. 2012. View Article : Google Scholar : PubMed/NCBI

26 

Grady WM and Markowitz SD: Hereditary colon cancer genes. Methods Mol Biol. 222:59–83. 2003.PubMed/NCBI

27 

Näthke I: APC at a glance. J Cell Sci. 117:4873–4875. 2004. View Article : Google Scholar : PubMed/NCBI

28 

Russell AM, Zhang J, Luz J, Hutter P, Chappuis PO, Berthod CR, Maillet P, Mueller H and Heinimann K: Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer. 118:1937–1940. 2006. View Article : Google Scholar : PubMed/NCBI

29 

Aziz O, Athanasiou T, Fazio VW, Nicholls RJ, Darzi AW, Church J, Phillips RK and Tekkis PP: Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg. 93:407–417. 2006. View Article : Google Scholar : PubMed/NCBI

30 

Mai V, Colbert LH, Berrigan D, Perkins SN, Pfeiffer R, Lavigne JA, Lanza E, Haines DC, Schatzkin A and Hursting SD: Calorie restriction and diet composition modulate spontaneous intestinal tumorigenesis in Apc (Min) mice through different mechanisms. Cancer Res. 63:1752–1755. 2003.PubMed/NCBI

31 

Steinbach G, Lynch PM, Phillips RK, Wallace MH, Hawk E, Gordon GB, Wakabayashi N, Saunders B, Shen Y, Fujimura T, et al: The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med. 342:1946–1952. 2000. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Li H, Zhang L, Jiang Q, Shi Z and Tong H: Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis. Exp Ther Med 13: 1495-1499, 2017.
APA
Li, H., Zhang, L., Jiang, Q., Shi, Z., & Tong, H. (2017). Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis. Experimental and Therapeutic Medicine, 13, 1495-1499. https://doi.org/10.3892/etm.2017.4122
MLA
Li, H., Zhang, L., Jiang, Q., Shi, Z., Tong, H."Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis". Experimental and Therapeutic Medicine 13.4 (2017): 1495-1499.
Chicago
Li, H., Zhang, L., Jiang, Q., Shi, Z., Tong, H."Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis". Experimental and Therapeutic Medicine 13, no. 4 (2017): 1495-1499. https://doi.org/10.3892/etm.2017.4122
Copy and paste a formatted citation
x
Spandidos Publications style
Li H, Zhang L, Jiang Q, Shi Z and Tong H: Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis. Exp Ther Med 13: 1495-1499, 2017.
APA
Li, H., Zhang, L., Jiang, Q., Shi, Z., & Tong, H. (2017). Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis. Experimental and Therapeutic Medicine, 13, 1495-1499. https://doi.org/10.3892/etm.2017.4122
MLA
Li, H., Zhang, L., Jiang, Q., Shi, Z., Tong, H."Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis". Experimental and Therapeutic Medicine 13.4 (2017): 1495-1499.
Chicago
Li, H., Zhang, L., Jiang, Q., Shi, Z., Tong, H."Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis". Experimental and Therapeutic Medicine 13, no. 4 (2017): 1495-1499. https://doi.org/10.3892/etm.2017.4122
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team