Molecular and phenotypic markers of hamartomatous polyposis syndromes in the gastrointestinal tract

Hepato-Gastroenterology

Volumn 46, Issue 26, 1999, Pages 661-666

  Entius, Mark M ^a   Westerman, Anne Marie ^d   Van Velthuysen, Marie Louise F ^b   Wilson, J H Paul ^d   Hamilton, Stanley R ^c   Giardiello, Francis M ^c   Offerhaus, G Johan A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b NETHERLANDS CANCER INSTITUTE   (Netherlands)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NONE

Author keywords

Cowden; FAP; Genotype; Hamartoma; Juvenile polyposis; Peutz Jeghers; Phenotype; Polyposis

Indexed keywords

BIOCHEMICAL MARKER;

ARTICLE; CANCER RISK; CARCINOGENESIS; COLORECTAL CANCER; COWDEN SYNDROME; DYSPLASIA; GASTROINTESTINAL POLYPOSIS; GENETIC DISORDER; GENETIC MARKER; GENOTYPE; HAMARTOMA; HUMAN; INHERITANCE; JUVENILE POLYP; PEUTZ JEGHERS SYNDROME; PHENOTYPE; POLYP; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GASTROINTESTINAL NEOPLASMS; GENES, DOMINANT; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; PEUTZ-JEGHERS SYNDROME; PRECANCEROUS CONDITIONS;

EID: 0032936468     PISSN: 01726390     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. 1 Giardiello FM, Offerhaus JGA: Phenotype and cancer risk of various polyposis syndromes. Eur J Cancer 1995; 31A:1085-1087.
2. 2 Beroud C, Soussi T: APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1996; 24:121-124.
3. 3 Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, et al: Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet 1997; 17:79-83.
4. 4 Ilyas M, Tomlinson IPM: The interactions of APC, E-cadherin and β-catenin in tumour development and progression. J Pathol 1997; 182:128-137.
5. 5 Takaku K, Oshima M, Miyoshi H, Matsui M, Selding MF, Taketo MM: Intestinal tumorigenesis in compound mutant mouse of both DPC4 (SMAD4) and APC genes. Cell 1998; 92:645-656.
6. 6 Levine AJ: p53, the cellular gatekeeper for growth and division. Cell 1997; 88:323-331.
7. 7 Lynch HT, Smyrk T, Lynch J: An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 1997; 93:84-99.
8. 8 Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, et al: Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997; 57:3920-3923.
9. 9 Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, et al: Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis. Am J Hum Genet 1997; 61:1254-1260.
10. 10 Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukala A, et al: A serine/ threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998; 391:184-187.
11. 11 Nelen MR, Van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, et al: Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6:1383-1387.
12. 12 Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, et al: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998; 280:1086-1088.
13. 13 Kinzler KW, Vogelstein B: Landscaping the cancer terrain. Science 1998; 280:1036-1037.
14. 14 Wu TT, Rezai B, Rashid A, Luce MC, Cayouette MC, Kim C, et al: Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps. Am J Pathol 1997; 150:939-947.
15. 15 Griffin CA, Lazar S, Hamilton SR, Giardiello FM, Long P, Krush AJ, et al: Cytogenetic analysis of intestinal polyps in polyposis syndromes: comparisons with sporadic colorectal adenomas. Cancer Genet Cytogenet 1993; 67:14-20.
16. 16 Thomas HJW, Whitelaw SC, Cottrell SE, Murday VA, Tomlinson IPM, Markie D, et al: Genetic mapping of the hereditary mixed polyposis syndrome to chromosome 6q. Am J Hum Genet 1996; 58:770-776.
17. 17 Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJA, Gittelsohn AM, Booker SV, et al: Increased risk of cancer in the Peutz-Jeghers syndrome. N Eng J Med 1987; 316:1511-1514.
18. 18 Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, et al: Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998; 128:896-899.
19. 19 Mehenni H, Blouin JL, Radhakrishna U, Bhardwaj SS, Bhardwaj K, Dixit VB, et al: Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet 1997; 61:1327-1334.
20. 20 Markie D, Huson S, Mahler E, Davies A, Tomlinson I, Bodmer WF: A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localize the breakpoints on a genetic map. Hum Genet 1996; 98:125-128.
21. 21 Jen J, Powel SM, Papadopoulos N, Smith KJ, Hamilton SR, Vogelstein B, et al: Molecular determinants of dysplasia in colorectal lesions. Cancer Res 1994; 54:5523-5526.
22. 22 Lloyd KM, Dennis M: Cowden's disease: a possible new syndrome with multiple system involvement. Ann Intern Med 1963; 58:136-142.
23. 23 Nelen MR, Padberg GW, Peeters EAJ, Lin AY, Van den Helm B, Frants RR, et al: Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genet 1996; 13:114-116.
24. 24 Eng C: Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J Med Genet 1994; 31:458-461.
25. 25 Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G: PTEN germ-line mutations in juvenile polyposis coli. Nature Genet 1998; 18:12-14.
26. 26 Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, et al: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7:507-515.