Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 267-273

  Nelen, Marcel R ^a   Kremer, Hannie ^a   Konings, Irene B M ^a   Schoute, Frans ^a   Van Essen, Anton J ^b   Koch, Rainer ^c   Woods, C Geoffrey ^d   Fryns, Jean Pierre ^e   Hamel, Ben ^a   Hoefsloot, Lies H ^a   Peeters, Els A J ^f   Padberg, George W ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Chromosome 10; Cowden disease; Lhermitte Duclos disease; Multiple hamartoma syndrome; PTEN MMAC1; Tumour suppressor gene

Indexed keywords

DNA; PHOSPHATASE;

ARTICLE; BREAST CANCER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COWDEN SYNDROME; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GERM LINE; HUMAN; MALE; MISSENSE MUTATION; MUTATION RATE; NETHERLANDS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL;

FEMALE; GENOTYPE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS;

EID: 0032905101     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200289     Document Type: Article

References (42)

1. Loyd KM, Dennis M: Cowden's disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 1963; 58: 136-142.
2. Starink TM, van der Veen JP, Arwert F et al: The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222-233.
3. Starink TM: Cowden's disease: analysis of fourteen new cases. J Am Acad Dermatol 1984; 11: 1127-1141.
4. Hanssen AM, Fryns JP: Cowden syndrome. J Med Genet 1995; 32: 117-119.
5. Longy M, Lacombe D: Cowden disease. Report of a family and review. Ann Genet 1996; 39: 35-42.
6. Starink TM, Meijer CJ, Brownstein MH: The cutaneous pathology of Cowden's disease: new findings. J Cutan Pathol 1985; 12: 83-93.
7. Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC: The dermatopathology of Cowden's syndrome. Br J Dermatol 1979; 100: 667-673.
8. Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC: Lhermitte-Duclos disease and Cowden disease: a single phakomatosis [see comments]. Ann Neurol 1991; 29: 517-523.
9. Albrecht S, Haber RM, Goodman JC, Duvic M: Cowden syndrome and Lhermitte-Duclos disease. Cancer 1992; 70: 869-876.
10. Eng C, Murday V, Seal S et al: Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J Med Genet 1994; 31: 458-461.
11. Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M: Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 1998; 29: 47-53.
12. Nelen MR, Padberg GW, Peeters EA et al: Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996; 13: 114-116.
13. Steck PA, Pershouse MA, Jasscr SA et al: Identification of i a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 1997; 15: 356-362.
14. Li J, Yen C, Liaw D et al: PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer [see comments]. Science 1997; 275: 1943-1947.
15. Li DM, Sun H: TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res 1997; 57: 2124-2129.
16. Liaw D, Marsh DJ, Li J et al: Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16: 64-67.
17. Nelen MR, Van Staveren WCG, Peeters EA et al: Germline mutations in the pten/mmac1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6: 1383-1387.
18. Arch EM, Goodman BK, Van Wesep RA et al: Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 1997; 71: 489-493.
19. Marsh DJ, Dahia PL, Zheng Z et al: Germline mutations in PTEN are present in Bannayan-Zonana syndrome [letter]. Nat Genet 1997; 16: 333-334.
20. Lynch ED, Ostermeyer EA, Lee MK 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.
21. Olschwang S, Serova Sinilnikova OM, Lenoir GM, Thomas G: Pten germ-line mutations in juvenile polyposis coli. Nat Genet 1998; 18: 12-14.
22. Marsh DJ, Roth S, Lunetta KL et al: Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res 1997; 57: 5017-5021.
23. Howe JR, Roth S, Ringold JC et al: Mutations in the smad4/dpc4 gene in juvenile polyposis. Science 1998; 280: 1086-1088.
24. Guldberg P, thor Straten P, Birck A, Ahrenkiel V, Kirkin AF, Zeuthen J: Disruption of the MMAC1/PTEN gene by deletion or mutation is a frequent event in malignant melanoma. Cancer Res 1997; 57: 3660-3663.
25. Dahia PL, Marsh DJ, Zheng Z et al: Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res 1997; 57: 4710-4713.
26. Risinger JI, Hayes AK, Berchuck A, Barrett JC: PTEN/ MMAC1 mutations in endometrial cancers. Cancer Res 1997; 57: 4736-4738.
27. Rasheed BK, Stenzel TT, McLendon RE et al: PTEN gene mutations are seen in high-grade but not in low-grade gliomas. Cancer Res 1997; 57: 4187-4190.
28. Suzuki H, Freije D, Nusskern DR et al: Interfocal heterogeneity of PTEN/MMAC1 gene alterations in multiple metastatic prostate cancer tissues. Cancer Res 1998; 58: 204-209.
29. Kong D, Suzuki A, Zou TT et al: PTEN1 is frequently mutated in primary endometrial carcinomas [letter]. Nat Genet 1997; 17: 143-144.
30. Tamura M, Gu J, Matsumoto K, Aota S, Parsons R, Yamakawa H: Inhibition of cell migration, spreading and focal adhesions by tumor suppressor PTEN. Science 1998; 280: 1614-1617.
31. Kim SK, Su LK, Oh Y, Kemp BL, Hong WK, Mao L: Alterations of pten/mmacc, a candidate tumor suppressor gene, and its homologue, pth2, in small cell lung cancer cell lines. Oncogene 1998; 16: 89-93.
32. Teng DHF, Hu R, Lin H et al: Mmac1/pten mutations in primary tumor specimens and tumor cell lines. Cancer Res 1997; 57: 5221-5225.
33. Dahia PLM, FitzGerald MG, Zhang X et al: A highly conserved processed pten pseudogene is located on chromosome band 9p21. Oncogene 1998; 16: 2403-2406.
34. Tsou HC, Teng DH, Ping XL et al: The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet 1997; 61: 1036-1043.
35. Marsh DJ, Coulon V, Lunetta KL 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.
36. Rhei E, Kang L, Bogomolniy F et al: Mutation analysis of the putative tumor suppressor gene pten/mmac1 in primary breast carcinomas. Cancer Res 1997; 57: 3657-3659.
37. Myers MP, Stolarov JP, Eng C et al: P-ten, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci USA 1997; 94: 9052-9057.
38. Myers MP, Tonks NK: Pten: sometimes taking it off can be better than putting it on. Am J Hum Genet 1997; 61: 1234-1238.
39. Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987; 15: 7155-7174.
40. Ueda K, Nishijima M, Inui H et al: Infrequent mutations in the pten/mmac1 gene among primary breast cancers. Jap J Cancer Res 1998; 89: 17-21.
41. Chen JD, Lindblom P, Lindblom A: A study of the pten/ mmac1 gene in 136 breast cancer families. Hum Genet 1998; 102: 124-125.
42. Jenne DE, Reimann H, Nezu J et al: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998; 18: 38-44.