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

Li,Haishan; Zhang,Lingling; Jiang,Quan; Shi,Zhenwang; Tong,Hanxing

doi:10.3892/etm.2017.4122

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

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
Published online on: February 14, 2017 https://doi.org/10.3892/etm.2017.4122
Pages: 1495-1499

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

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

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