Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium

Cancer Research

Volumn 60, Issue 9, 2000, Pages 2477-2482

  Woodford Richens, Kelly ^a   Williamson, Jill ^a   Bevan, Stephen ^b   Young, Joanne ^c   Leggett, Barbara ^c   Frayling, Ian ^d   Thway, Yi ^e   Hodgson, Shirley ^f   Jin Cheon, Kim ^g   Iwama, Takeo ^h   Novelli, Marco ⁱ   Sheer, Denise ^a   Poulsom, Richard ^a   Wright, Nicholas ^a   Houlston, Richard ^b   Tomlinson, Ian ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e HAVERING AND REDBRIDGE UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^f GUY S HOSPITAL   (United Kingdom)

^g University of Ulsan College of Medicine   (South Korea)

^h Ctr Polyposis and Intestinal Dis   (Japan)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; CLONE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE INACTIVATION; GENE LOSS; GENE MUTATION; HUMAN; JUVENILE POLYP; POLYPOSIS; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; CHROMOSOMES, HUMAN, PAIR 18; DNA-BINDING PROTEINS; EPITHELIUM; GASTROINTESTINAL DISEASES; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LOSS OF HETEROZYGOSITY; MICROSATELLITE REPEATS; POLYPS; SMAD4 PROTEIN; SYNDROME; TRANS-ACTIVATORS;

EID: 0034194138     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Veale, A., McColl, I., Bussey, H., and Morson, B. Juvenile polyposis coli. J. Med. Genet., 3: 5-16, 1966.
2. Hemminki, A., Tomlinson, I., Markie, D., Jarvinen, H., Sistonen, P., Bjorkqvist, A. M., Knuutila, S., Salovaara, R., Bodmer, W., Shibata, D., de la Chapelle, A., and Aaltonen, L. A. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat. Genet., 15: 87-90, 1997.
3. Gruber, S., Entius, M., Petersen, G., Laken, S., Longo, P., Boyer, R., Levin, A., Mujumdar, U., Trent, J., Kinzler, K., Vogelstein, B., Hamilton, S., Polymeropoulos, M., Offerhaus, G., and Giardiello, F. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res., 58: 5267-5670, 1998.
4. Wang, Z., Ellis, I., Zauber, P., Iwama, T., Marchese, C., Talbot, I., Xue, W., Yan, Z., and Tomlinson, I. Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence. J. Pathol., 188: 9-13, 1999.
5. Marsh, D., Dahia, P., Coulon, V., Zheng, Z., Dorion-Bonnet, F., Call, K., Little, R., Lin, A., Eeles, R., Goldstein, A., Hodgson, S., Richardson, A., Robinson, B., Weber, H., Longy, M., and Eng, C. Allelic imbalance, including deletion of PTEN/MMAC1, at the Cowden disease locus on 10q22-23 in hamartomas from patients with Cowden syndrome and germline PTEN mutation. Genes Chromosomes Cancer, 21: 61-69, 1998.
6. Leong, P., Kauffman, C., Moresi, J., Wu, L., Jeronimo, C., Sidransky, D., and Miller, S. Basal cell carcinoma-like epidermal changes overlying dermatofibromas often reveal loss of heterozygosity in the PTCH gene. J. Investig. Dermatol., 113: 279-280, 1999.
7. Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Jarvinen, H., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., and Aaltonen, L. A. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (Washington DC), 280: 1086-1088, 1998.
8. Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., Eng, C., Markie, D., Woodford-Richens, K., Rodriguez-Bigas, M., Leggett, B., Neale, K., Phillips, R., Sheridan, E., Hodgson, S., Iwama, T., Eccles, D., Bodmer, W., and Tomlinson, I. Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Hum. Mol. Genet., 7: 1907-1912, 1998.
9. Moskaluk, C. A., Hruban, R. H., Schutte, M., Lietman, A. S., Smyrk, T., Fusaro, L., Lynch, J., Yeo, C. J., Jackson, C. E., Lynch, H. T., and Kern, S. E. Genomic sequencing of DPC4 in the analysis of familial pancreatic carcinoma. Diagn. Mol. Pathol., 6: 85-90, 1997.
10. Tagaki, Y., Konmura, H., Futamura, M., Kida, H., Tanemura, H., Shimokawa, K., and Saji, S. Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. Gastroenterology, 111: 1369-1372, 1996.
11. MacGrogan, D., Pegram, M., Slamon, D., and Bookstein, R. Comparative mutational analysis of DPC4 (SMAD4) in prostatic and colorectal carcinomas. Oncogene, 15: 1111-1114, 1997.
12. Kinzler, K. W., and Vogelstein, B. Landscaping the cancer terrain. Science (Washington DC), 280: 1036-1037, 1998.
13. Kinzler, K., and Vogelstein, B. Lessons from hereditary colorectal cancer. Cell, 87: 159-170, 1997.
14. Woodford-Richens, K., Bevan, S., Churchman, M., Dowling, B., Norbury, G., Hodgson, S., Desai, D., Neale, K., Phillips, K. S., Young, J., Leggett, B., Dunlop, M., Rozen, P., Eng, C., Markie, D., Rodriguez Bigas, M. A., Sheridan, E., Iwama, T., Eccles, D., Kim, J. C., Kim, K. M., Bodmer, W. F., Tomlinson, I. P. M., and Houlston, R. S. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut, 46: 656-660, 2000.
15. Hahn, S. A., Hoque, A. T., Moskaluk, C. A., da Costa, L. T., Schutte, M., Rozenblum, E., Seymour, A. B., Weinstein, C. L., Yeo, C. J., Hruban, R. H., and Kern, S. E. Homozygous deletion map at 18q21.1 in pancreatic cancer. Cancer Res., 56: 490-494, 1996.
16. Thiagalingam, S., Lengauer, C., Leach, F., Schutte, M., Hahn, S., Overhauser, J., Wilson, J., Markowitz, S., Hamilton, S., Kern, S., Kinzler, K., and Vogelstein, B. Evaluation of candidate tumor suppressor genes on chromosome 18 in colorectal cancers. Nat. Genet., 13: 343-346, 1996.
17. Jacoby, R. F., Schlack, S., Cole, C. E., Skarbek, M., Harris, C., and Meisner, L. F. A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria. Gastroenterology, 112: 1398-1403, 1997.
18. Green, A. J., Sepp, T., and Yates, J. R. Clonality of tuberous sclerosis hamartomas shown by non-random X-chromosome inactivation. Hum. Genet., 97, 240-243, 1996.
19. Maniotis, A. J., Folberg, R., Hess, A., Seftor, E. A., Gardner, L. M. G., Pe'er, J., Trent, J. M., Meltzer, P. S., and Hendrix, M. J. C. Vascular channel formation by human melanoma cells in vivo and in vitro: vasculogenic mimicry. Am. J. Pathol., 155: 739-752, 1999.
20. Abeln, E. C. A., Smot, V. T. H. B. M., Wessels, J. W., De Ieeuw, W. J. F., Cornelisse, C. J., and Fleuren, G. J. Molecular genetic evidence for the conversion hypothesis of the origin of malignant mixed Mullerian tumours. J. Pathol., 183: 424-431, 1997.
21. Marsh, D. J., Roth, S., Lunetta, K. L., Sistonen, P., Dahia, P. L. M., Hemminki, A., Zheng, Z., Caron, S., van Orsouw, N. J., Bodmer, W. F., Cottrell, S. E., Dunlop, M. G., Eccles, D., Hodgson, S. V., Jarvinen, H., Kellokumpu, I., Markie, D., Neale, K., Phillips, R., Rosen, P., Syngal, S., Vijg, J., Tomlinson, I. P. M., Aaltonen, L. A., and Eng, C. Exclusion of PTEN/MMAC1/TEP1 and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome (JPS). Cancer Res., 57: 5017-5020, 1997.
22. Thompson, C., Le Boit, P., Nederlof, P., and Gray, J. Thick-section fluorescence in situ hybridization on formalin-fixed, paraffin-embedded archival tissue provides a histogenetic profile. Am. J. Pathol., 144: 237-243, 1994.
23. Leggett, B. A., Thomas, L. R., Knight, N., Healey, S., Chenevix-Trench, G., and Searle, J. Exclusion of APC and MCC as the gene defect in one family with familial juvenile polyposis. Gastroenterology, 105: 1313-1316, 1993.