Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1

Clinical Endocrinology

Volumn 68, Issue 3, 2008, Pages 350-354

  Owens, Martina ^a   Ellard, Sian ^a   Vaidya, Bijay ^a  

^a ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HUMAN; HYPOPHYSIS TUMOR; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE LIGATION DEPENDENT PROBE AMPLIFICATION; PANCREAS TUMOR; PARATHYROID TUMOR; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION;

ADULT; AGED; AGED, 80 AND OVER; EXONS; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS; YOUNG ADULT;

EID: 39149128288     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.03045.x     Document Type: Article

References (22)

1. Brandi, M.L., Gagel, R.F., Angeli, A., Bilezikian, J.P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Falchetti, A., Gheri, R.G., Libroia, A., Lips, C.J., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B.A., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R.V., Thompson, N.W., Tomassetti, P., Tonelli, F., Wells, S.A. Jr. & Marx, S.J. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism, 86, 5658 5671.
2. Trump, D., Farren, B., Wooding, C., Pang, J.T., Besser, G.M., Buchanan, K.D., Edwards, C.R., Heath, D.A., Jackson, C.E., Jansen, S., Lips, K., Monson, J.P., O'Halloran, D., Sampson, J., Shalet, S.M., Wheeler, M.H., Zink, A. Thakker, R.V. (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Quarterly Journal of Medicine, 89, 653 669.
3. Chandrasekharappa, S.C., Guru, S.C., Manickam, P., Olufemi, S.E., Collins, F.S., Emmert-Buck, M.R., Debelenko, L.V., Zhuang, Z., Lubensky, I.A., Liotta, L.A., Crabtree, J.S., Wang, Y., Roe, B.A., Weisemann, J., Boguski, M.S., Agarwal, S.K., Kester, M.B., Kim, Y.S., Heppner, C., Dong, Q., Spiegel, A.M., Burns, A.L. Marx, S.J. (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science, 276, 404 407.
4. Stenson, P.D., Ball, E.V., Mort, M., Phillips, A.D., Shiel, J.A., Thomas, N.S., Abeysinghe, S., Krawczak, M. Cooper, D.N. (2003) Human Gene Mutation Database (HGMD): 2003 update. Human Mutation, 21, 577 581.
5. Ellard, S., Hattersley, A.T., Brewer, C.M. Vaidya, B. (2005) Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clinical Endocrinology, 62, 169 175.
6. Cardinal, J.W., Bergman, L., Hayward, N., Sweet, A., Warner, J., Marks, L., Learoyd, D., Dwight, T., Robinson, B., Epstein, M., Smith, M., Teh, B.T., Cameron, D.P. Prins, J.B. (2005) A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. Journal of Medical Genetics, 42, 69 74.
7. Klein, R.D., Salih, S., Bessoni, J. Bale, A.E. (2005) Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics in Medicine, 7, 131 138.
8. Vaidya, B., Hattersley, A.T. Ellard, S. (2005) Defining clinical criteria for diagnostic molecular genetic testing in multiple endocrine neoplasia type 1. Journal of Medical Genetics, http://jmg.bmjjournals.com/cgi/eletters/42/1/69.
9. Kishi, M., Tsukada, T., Shimizu, S., Futami, H., Ito, Y., Kanbe, M., Obara, T. Yamaguchi, K. (1998) A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1. Japanese Journal of Cancer Research, 89, 1 5.
10. Bergman, L., Boothroyd, C., Palmer, J., Grimmond, S., Walters, M., Teh, B., Shepherd, J., Hartley, L. Hayward, N. (2000) Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours. British Journal of Cancer, 83, 1003 1008.
11. Cavaco, B.M., Domingues, R., Bacelar, M.C., Cardoso, H., Barros, L., Gomes, L., Ruas, M.M., Agapito, A., Garrao, A., Pannett, A.A., Silva, J.L., Sobrinho, L.G., Thakker, R.V. Leite, V. (2002) Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions. Clinical Endocrinology, 56, 465 473.
12. Verges, B., Boureille, F., Goudet, P., Murat, A., Beckers, A., Sassolas, G., Cougard, P., Chambe, B., Montvernay, C. Calender, A. (2002) Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. Journal of Clinical Endocrinology and Metabolism, 87, 457 465.
13. Cebrian, A., Ruiz-Llorente, S., Cascon, A., Pollan, M., Diez, J.J., Pico, A., Telleria, D., Benitez, J. Robledo, M. (2003) Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients. Journal of Medical Genetics, 40, e72.
14. Kikuchi, M., Ohkura, N., Yamaguchi, K., Obara, T. Tsukada, T. (2004) Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1. Cancer Letters, 208, 81 88.
15. Lairmore, T.C., Piersall, L.D., DeBenedetti, M.K., Dilley, W.G., Mutch, M.G., Whelan, A.J. Zehnbauer, B. (2004) Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). Annals of Surgery, 239, 637 645.
16. Fukuuchi, A., Nagamura, Y., Yaguchi, H., Ohkura, N., Obara, T. Tsukada, T. (2006) A whole MEN1 gene deletion flanked by Alu repeats in a family with multiple endocrine neoplasia type 1. Japanese Journal of Clinical Oncology, 36, 739 744.
17. Fromaget, M., Vercherat, C., Zhang, C.X., Zablewska, B., Gaudray, P., Chayvialle, J.A., Calender, A. Cordier-Bussat, M. (2003) Functional characterization of a promoter region in the human MEN1 tumor suppressor gene. Journal of Molecular Biology, 333, 87 102.
18. Ellard, S., Bulman, M.P., Frayling, T.M., Allen, L.I., Dronsfield, M.J., Tack, C.J. Hattersley, A.T. (1999) Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes, 48, 921 923.
19. Ellard, S. (2004) Multiple endocrine neoplasia types 1 and 2. Methods in Molecular Medicine, 92, 267 283.
20. Kong, C., Ellard, S., Johnston, C. Farid, N.R. (2001) Multiple endocrine neoplasia type 1 Burin from Mauritius: a novel MEN1 mutation. Journal of Endocrinological Investigation, 24, 806 810.
21. Kip1 mutation in multiple endocrine neoplasia. Journal of Clinical Endocrinology and Metabolism, 92, 3321 3325.
22. Georgitsi, M., Raitila, A., Karhu, A., Tuppurainen, K., Makinen, M.J., Vierimaa, O., Paschke, R., Saeger, W., van der Luijt, R.B., Sane, T., Robledo, M., De Menis, E., Weil, R.J., Wasik, A., Zielinski, G., Lucewicz, O., Lubinski, J., Launonen, V., Vahteristo, P. Aaltonen, L.A. (2007) Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proceedings of the National Academy of Sciences of the United States of America, 104, 4101 4105.