Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 507-515

  Marsh, Debbie J ^a,b   Coulon, Valérie ^c   Lunetta, Kathryn L ^a,d   Rocca Serra, Philippe ^c   Dahia, Patricia L M ^a,b   Zheng, Zimu ^a,b   Liaw, Danny ^e   Caron, Stacey ^a,b   Duboué, Bernadette ^c   Lin, Albert Y ^f   Richardson, Anne Louise ^g   Bonnetblanc, Jean Marie ^h   Bressieux, Jean Marie ⁱ   Cabarrot Moreau, Agnés ^j   Chompret, Agnés ^k   Demange, Liliane ^l   Eeles, Rosalind A ^m   Yahanda, Alan M ⁿ   Fearon, Eric R ⁿ   Fricker, Jean Pierre ^o   Gorlin, Robert J ^p   Hodgson, Shirley V ^q   Huson, Susan ^r   Lacombe, Didier ^s   LePrat, Frédéric ^s   Odent, Sylvie ^t   Toulouse, Claude ^c   Olopade, Olufunmilayo I ^u   Sobol, Hagay ^v   Tishler, Sigrid ^w   Woods, C Geoffrey ^x   Robinson, Bruce G ^g   Weber, H Christian ^y   Parsons, Ramon ^e   Peacocke, Monica ^z   Longy, Michel ^a,c   Eng, Charis ^a,b,aa   more..

^a DANA FARBER CANCER INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c Institute Bergonie   (France)

^d HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^e Cancer Center ^*  (United States)

^f NATIONAL CANCER INSTITUTE   (United States)

^g UNIVERSITY OF SYDNEY   (Australia)

^h DUPUYTREN UNIVERSITY HOSPITAL   (France)

ⁱ CHU   (France)

^j CHU RANGUEIL   (France)

^k INSTITUT GUSTAVE ROUSSY   (France)

^l INSTITUT JEAN GODINOT   (France)

^m INSTITUTE OF CANCER RESEARCH   (United Kingdom)

ⁿ UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^o CENTRE PAUL STRAUSS   (France)

^p UNIVERSITY OF MINNESOTA   (United States)

^q GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^r CHURCHILL HOSPITAL   (United Kingdom)

^s BORDEAUX UNIVERSITY HOSPITAL   (France)

^t RENNES UNIVERSITY HOSPITAL   (France)

^u UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

^v INSTITUT PAOLI CALMETTES   (France)

^w Harvard Pilgrim Health Plan   (United States)

^x ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^y BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^z New York Presbyterian Columbia University Medical Center   (United States)

^aa UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; BREAST CANCER; BREAST DISEASE; CONGENITAL TUMOR; CONTROLLED STUDY; COWDEN SYNDROME; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; GERM LINE; HAMARTOMA; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATION RATE; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; TUMOR SUPPRESSOR GENE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; EXONS; FEMALE; GENES, TUMOR SUPPRESSOR; GENOTYPE; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN-TYROSINE-PHOSPHATASE; PTEN PHOSPHOHYDROLASE; SYNDROME; TUMOR CELLS, CULTURED; TUMOR SUPPRESSOR PROTEINS;

EID: 6844252284     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.507     Document Type: Article

References (36)

1. Carlson, H.E., Burns, T.W., Davenport, S.L., Luger, A.M., Spence, M.A., Sparkes, R.S. and Orth, D.N. (1984) Cowden disease: gene marker studies and measurements of epidermal growth factor. Am. J. Hum. Genet., 38, 908-917.
2. Hanssen, A.M.N. and Fryns, J.P. (1995) Cowden syndrome. J. Med. Genet., 32, 117-119.
3. Longy, M. and Lacombe, D. (1996) Cowden disease. Report of a family and review. Ann. Genet., 39, 35-42.
4. Eng, C. (1997) Cowden syndrome. J. Genet. Counsel., 6. 181-191.
5. Starink, T.M., van der Veen, J.P.W., Arwert, F., de Waal. L.P.,de Lange, G.G., Gille, J.J.P. and Eriksson, A.W. (1986) The Cowden syndrome: a clinical and genetic study in 21 patients. Clin. Genet., 29, 222-233.
6. Padberg, G.W., Schot, J.D., Vielvoye, G.J., Bots, G.T. and de Beer, F.C. (1991) Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann. Neurol., 29, 517-523.
7. Albrecht, S., Haber, R.M., Goodman, J.C. and Duvic, M. (1992) Cowden syndrome and Lhermitte-Duclos disease. Cancer, 70, 869-876.
8. Vinchon, M., Blond, S., Lejeune, J.P., Krivosik, I., Fossati, P., Assaker, R. and Christiaens, J.L. (1994) Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature. J. Neurol., Neurosurg. Psychiatr., 57, 699-704.
9. Eng, C., Murday, V., Seal, S., Mohammed, S., Hodgson, S.V., Chaudary, M.A., Fentiman, I.S., Ponder, B.A. and Eeles, R.A. (1994) Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J. Med. Genet., 31, 458-461.
10. Bannayan, G.A. (1971) Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch. Pathol., 92, 1-5.
11. Gorlin, R.J., Cohen, M.M., Condon, L.M. and Burke, B.A. (1992) Bannayan-Riley-Ruvalcaba syndrome. Am. J. Med. Genet., 44, 307-314.
12. Zonana, J., Rimoin, D.L. and Davis, D.C. (1976) Macrocephaly with multiple lipomas and hemangiomas. J. Paediatr., 89, 600-603.
13. Fargnoli, M.C., Orlow, S.J., Semelconcepcion, J. and Bolognia, J.L. (1996) Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Arch. Dermatol., 132, 1214-1218.
14. Nelen, M.R., Padberg, G.W., Peeters, E.A.J., Lin, A.Y., van den Helm. B., Frants, R.R., Coulon, V., Goldstein, A.M., van Reen, M.M.M., Easton, D.F., Eeles, R.A., Hodgson, S., Mulvihill, J.J., Murday, V.A., Tucker, M.A., Mariman, E.C.M., Starink, T.M., Ponder, B.A.J., Ropers, H.H., Kremer, H., Longy, M. and Eng, C. (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genet., 13, 114-116.
15. Steck, P.A., Pershouse, M.A., Jasser, S.A., Sifred Yung, W.K., Lin, H., Ligon, A.H., Langford, L.A., Baumgard, M.L., Hattier, T., Davis, T., Frye, C., Hu, R., Swedlund, B., Teng, D.H.F. and Tavtigian, S.V. (1997) Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet., 15, 356-362.
16. Li, D.-M. and Sun, H. (1997) TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor ß. Cancer Res., 57, 2124-2129.
17. Li, J., Yen, C., Liaw, D., Podsypanina, K., Bose, S., Wang, S., Puc, J., Miliaresis, C., Rodgers, L., McCombie, R., Bigner, S.H., Giovanella, B.C., Ittman, M., Tyoko, B., Hibshoosh, H., Wigler, M.H. and Parsons, R. (1997) PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer. Science, 275, 1943-1947.
18. Liaw, D., Marsh, D.J., Li, J., Dahia, P.L.M., Wang, S.I., Zheng, Z., Bose, S., Call, K.M., Tsou, H.C., Peacocke, M., Eng, C. and Parsons, R. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genet., 16, 64-67.
19. Myers, M.P., Stolarov, J.P., Eng, C., Li, J., Wang, S.I., Wigler, M.H., Parsons, R. and Tonks, N.K. (1997) P-TEN, the tumor suppressor from human chromosome 10q23, is a dual specificity phosphatase. Proc. Natl Acad. Sci. USA, 94, 9052-9057.
20. Nelen, M.R., van Staveren, W.C.G., Peeters, E.A.J., Hassel, M.B., Gorlin, R.J., Hamm, H., Lindboe, C.F., Fryns, J.-P., Sijmons, R.H., Woods, D.G., Mariman, E.C.M., Padberg, G.W. and Kremer, H. (1997) Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum. Mol. Genet., 6, 1383-1387.
21. Tsou, H.C., Teng, D., Ping, X.I., Broncolini, V., Davis, T., Hu, R., Xie, X.-X., Gruener, A.C., Schrager, C.A., Christiano, A.M., Eng, C., Steck, P., Ott, J., Tavitigian, S.V. and Peacocke, M. (1997) The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCAI-negative cases. Am. J Hum. Genet., 61, 1036-1043.
22. Marsh, D.J., Dahia, P.L.M., Zheng, Z., Parsons, R., Gorlin, R.J. and Eng, C. (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nature Genet., 16, 333-334.
23. Dahia, P.L.M., Marsh, D.J., Zheng, Z., Zedenius, J., Komminoth, P., Frisk, T., Wallin, G., Parsons, R., Longy, M., Larsson, C. and Eng, C. (1997) Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res., 57, 4710-4713.
24. Tomlinson, I.P.M., Neale, K., Talbot, I.C., Spigelman, A.D., Williams, C.B., Phillips, R.K.S. and Bodmer, W.F. (1996) A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-36. J. Med. Genet., 33, 268-273.
25. Rustgi, A.K. (1994) Medical progress - hereditary gastrointestinal polyposis and nonpolyposis syndromes. N. Engl. J. Med., 331, 1694-1702.
26. Lindahl, T. (1974) An N-glycosidase from Escherichia coli that relaeases free uracil from DNA containing deaminated cytosine residues. Proc. Natl Acad. Sci. USA, 71, 3649-3653.
27. Barford, D., Flint, A.J. and Tonks, N.K. (1994) Crystal structure of human protein tyrosine phosphatase 1B. Science, 263, 1397-1404.
28. Flint, A.J., Tiganis, T., Barford. D. and Tonks, N.K. (1997) Development of 'substrate-trapping' mutants to identify physiological substrates of protein tyrosine phosphatases. Proc. Natl Acad. Sci. USA, 94, 1680-1685.
29. Knudson, A.G. (1971) Mutation and cancer, statistical study of retinoblastoma. Proc. Natl Acad. Sci. USA, 68, 820-823.
30. Mathew, C.G., Smith, B.A., Thorpe, K., Wong, Z., Royle, N.J., Jeffreys, A.J. and Ponder, B.A.J. (1987) Deletion of genes on chromosome 1 in endocrine neoplasia. Nature, 328, 524-526.
31. Marsh, D.J., Zheng, Z., Zedenius, J., Kremer, H., Padberg, G.W., Larsson, C., Longy, M. and Eng, C. (1997) Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas. Cancer Res., 57, 500-503.
32. Marsh, D.J., Dahia, P.L.M., Coulon, V., Zheng, Z., Dorion-Bonnet, F., Call, K.M., Little, R., Lin, A.Y., Eeles, R.A., Goldstein, A.M., Hodgson, S.V., Richardson, A.-L., Robinson. B.G., Weber, H.C., Longy, M. and Eng, C. (1998) Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. Genes Chrom. Cancer, in press.
33. Mulligan, L.M., Marsh, D.J., Robinson, B.G., Schuffenecker, I., Zedenius, J., Lips, C.J.M., Gagel, R.F., Takai, S.I., Noll, W.W., Niederle, B., Raue, F., Lacroix, A., Thibodeau, S.N., Frilling, A., Ponder, B.A.J. and Eng, C. for the International RET Mutation Consortium (1995) Genotype-phenotype correlation in MEN 2: report of the International RET Mutation Consortium. J. Int. Med., 238, 343-246.
34. Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R.F., Ploos van Amstel, H.K., Lips, C.J.M., Nishisho, I., Takai, S.-I., Marsh, D.I., Robinson, B.G., Frank-Raue, K., Raue, F., Xue, F., Noll, W.W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjöld, M., Komminoth, P., Hendy, G.N., Gharib, H., Thibodeau, S.N., Lacroix, A., Frilling, A., Ponder, B.A.J. and Mulligan, L.M. (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. J. Am. Med. Assoc., 276, 1575-1579.
35. Mehta, C.R. and Patel, N.R. (1983) A network algorithm for performing Fisher's exact test in rXc contingency tables. J Am. Statistical Assoc., 78. 427-434.
36. Agresti, A. (1990) Categorical Data Analysis. John Wiley and Sons, New York.