A large deletion of chromosome 5q22.1-22.2 associated with sparse type of familial adenomatous polyposis: Report of a case

Japanese Journal of Clinical Oncology

Volumn 44, Issue 12, 2014, Pages 1243-1247

  Yamaguchi, Tatsuro ^a   Koizumi, Koichi ^a   Arai, Masami ^b   Tamura, Kazuo ^c   Iijima, Takeru ^a   Horiguchi, Shin Ichiro ^a   Miyaki, Michiko ^a  

^a TOKYO METROPOLITAN KOMAGOME HOSPITAL   (Japan)

^b CANCER INSTITUTE HOSPITAL   (Japan)

^c KINKI UNIVERSITY   (Japan)

Author keywords

APC gene; Chromosome 5q22; Familial adenomatous polyposis; Large genomic deletion

Indexed keywords

GENOMIC DNA;

ADULT; AMPLICON; APC GENE; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CAMK4 GENE; CASE REPORT; CHROMOSOME DELETION 5; CHROMOSOME DELETION 5Q22; COLON ADENOCARCINOMA; COLON CANCER; COLONOSCOPY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DISORDER; CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM; DESMOID TUMOR; DISEASE ASSOCIATION; DISTANT METASTASIS; DUODENAL POLYP; DUODENOSCOPY; EPB41L4A GENE; EXON; EYE EXAMINATION; FAMILIAL COLON POLYPOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GASTRODUODENOSCOPY; GENE; GENE CLUSTER; GENE LOCUS; GENE MUTATION; GERMLINE MUTATION; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPH NODE METASTASIS; MALE; MOLECULAR CLONING; MULTIPLE FUNDIC GLAND; PROCTOCOLECTOMY; RETINAL PIGMENT EPITHELIUM; SIGMOID; SIGMOID COLON CANCER; SOMATIC MUTATION; CHROMOSOME 5; CHROMOSOME DELETION; COLON POLYPOSIS; GENETICS; PEDIGREE;

ADENOMATOUS POLYPOSIS COLI; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE;

EID: 84928756796     PISSN: 03682811     EISSN: 14653621     Source Type: Journal    
DOI: 10.1093/jjco/hyu150     Document Type: Article

References (35)

1. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
2. Joslyn G, Carlson M, Thliveris A, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991;66:601-13.
3. Kinzler KW, Nilbert MC, Su L-K, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661-5.
4. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-9.
5. Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2003;2:43-55.
6. Spirio L, Olschwang S, Groden J, et al. Alleles of APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
7. Michils G, Tejpar S, Thoelen R, et al. Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat 2005;25:125-34.
8. Aretz S, Stienen D, Uhlhaas S, et al. Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet 2005;42:185-92.
9. De Rosa M, Scarano MI, Panariello L, et al. Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis. Eur J Hum Genet 1999;7:695-703.
10. Sieber OM, Lamlum H, Crabtree MD, et al. Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or 'multiple' colorectal adenomas. Proc Natl Acad Sci USA 2002;99:2954-8.
11. Bunyan DJ, Eccles DM, Sillibourne J, et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004;91:1155-9.
12. Nielsen M, Bik E, Hes FJ, et al. Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review. Eur J Hum Genet 2007;15:1034-42.
13. Albuquerque C, Breukel C, van der Luijt R, et al. The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the b-catenin signaling cascade. Hum Mol Genet 2002;11:1549-60.
14. Crabtree M, Sieber OM, Lipton L, et al. Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene 2003;22:4257-65.
15. Goss KH, Groden J. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 2000;18:1967-79.
16. Hanson CA, Miller JF. Non-traditional role for adenomatous polyposis coli (APC) tumor suppressor protein. Gene 2005;361:1-12.
17. Rubinfeld B, Albert I, Porfiri E, et al. Loss of b-catenin regulation by the APC tumor suppressor protein correlates with loss of structure due to common somatic mutations of the gene. Cancer Res 1997;57:4624-30.
18. Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992;89:4452-6.
19. Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993;2:425-34.
20. Olschwang S, Tiret A, Laurent-Puig P, et al. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 1993;75:959-68.
21. Caspari R, Olschwang S, Friedl W, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995;4:337-40.
22. Cao Y, Pieretti M, Marshall J, et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol 2002;97:1822-7.
23. Flintoff KJ, Sheridan E, Turner G, et al. Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning. J Med Genet 2001;38:129-32.
24. Gismondi V, Bafico A, Biticchi R, et al. 310 basepair APC deletion with duplication of breakpoint (439ins15del310) in an Italian polyposis patient. Hum Mutat Suppl 1998;1:S220-2.
25. Meuller J, Kanter-Smoler G, Nygren AO, et al. Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. Genet Test 2004;8:248-56.
26. Mihalatos M, Apessos A, Dauwerse H, et al. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. BMC Cancer 2005;5:40.
27. Renkonen ET, Nieminen P, Abdel-Rahman WM, et al. Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous. J Clin Oncol 2005;23:5651-9.
28. Su LK, Steinbach G, Sawyer JC, et al. Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Hum Genet 2000;106:101-7.
29. Su LK, Kohlmann W, Ward PA, Lynch PM. Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15. Hum Genet 2002;111:88-95.
30. Takahashi M, Kikuchi M, Ohkura N, et al. Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis. Int J Oncol 2006;29:413-21.
31. Venesio T, Balsamo A, Rondo-Spaudo M, et al. APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations. Lab Invest 2003;83:1859-66.
32. Miyaki M, Yamaguchi T, Iijima T, et al. Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype. Int J Cancer 2008;122:2491-7.
33. Wu JY, Ribar TJ, Cummings DE, et al. Spermiogenesis and exchange of basic nuclear proteins are impaired in male germ cells lacking Camk4. Nat Genet 2000;25:448-52.
34. Soccio RE, Adams RM, Romanowski MJ, et al. The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. Proc Nat Acad Sci USA 2002;99:6943-8.
35. Ishiguro H, Furukawa Y, Daigo Y, et al. Isolation and characterization of human NBL4, a gene involved in the beta-catenin/Tcf signaling pathway. Jpn J Cancer Res 2000;91:597-603.