A new mutation in the MEN1 gene

Cancer Genetics and Cytogenetics

Volumn 192, Issue 2, 2009, Pages 99-101

  Franchi, Giulia M ^a   Villa, Valentina V ^a   Carrera, Paola ^a   Sartorio, Samantha Menghi ^a   Maffi, Paola ^b   Bosi, Emanuele ^a   Manzoni, Marco F ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b Department of Medicine   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; AMYLASE; CHROMOGRANIN; CYTOKERATIN; GUANOSINE; METHOXY ISOBUTYL ISONITRILE TECHNETIUM TC 99M; PENTETREOTIDE; PROKINETIC AGENT; PROLACTIN; SYNAPTOPHYSIN; TRIACYLGLYCEROL LIPASE;

ABDOMINAL PAIN; ADULT; AMYLASE BLOOD LEVEL; ANAMNESIS; CASE REPORT; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; ENDOCRINE TUMOR; FAMILY HISTORY; FEMALE; GASTROINTESTINAL TRANSIT; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERPARATHYROIDISM; HYPERPROLACTINEMIA; HYPERTHYROIDISM; IMMUNOHISTOCHEMISTRY; LETTER; MULTIPLE ENDOCRINE NEOPLASIA; NUCLEIC ACID BASE SUBSTITUTION; PANCREATICODUODENECTOMY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RECURRENT DISEASE; RNA SPLICING; STOMACH DISEASE; STOMACH WALL; SUBCUTANEOUS FAT; TRIACYLGLYCEROL LIPASE BLOOD LEVEL; VOMITING; WEIGHT REDUCTION;

ADULT; FEMALE; HUMANS; MUTATION; PROTO-ONCOGENE PROTEINS;

EID: 67649757200     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2009.04.012     Document Type: Letter

References (13)

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.M., Lombardi G., Mannelli M., Pacini F., Ponder B.A.J., Raue F., Skogseid B., Tamburrano G., Thakker R.V., Thompson N.W., Tomassetti P., Tonelli F., Wells Jr. S.A., and Marx S.J. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 (2001) 5658-5671
2. Pieterman C.R.C., Schreinemakes J.M.J., Koppeschaar H.P.F., Vriens M.R., Borel Rinkes I.H.M., Zonnenberg B.A., Van der Luijt R.B., and Valk G.D. Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcame. Clin Endocrinol 70 (2008) 575-581
3. Guo S.S., and Sawicki M.P. Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. Mol Endocrinol 15 (2001) 1653-1664
4. Milne T.A., Hughes C.M., Lloyd R., Yang Z., Rozenblatt-Rosen O., Dou Y., Schnepp R.W., Krankel C., LiVolsi V.A., Gibbs D., Hua X., Roeder R.G., Meyerson M., and Hess J.L. Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proc Natl Acad Sci USA 102 (2005) 749-754
5. Gobl A.E., Berg M., Lopez-Egido J.R., Oberg K., Skogseid B., and Westin G. Menin represses JunD-activated transcription by a histone deacetylase-dependent mechanism. Biochim Biophys Acta 1447 (1999) 51-56
6. Falchetti A., Marini F., Tonelli F., and Brandi M.L. Lessons from genes mutated in multiple endocrine neoplasia (MEN) syndromes. Ann Endocrinol (Paris) 66 (2005) 195-205
7. Marx S.J. Molecular genetics of multiple endocrine neoplasia types 1 and 2. [Erratum in: Nat Rev Cancer 2005;5:663]. Nat Rev Cancer 5 (2005) 367-375
8. Kouvaraki M.A., Lee J.E., Shapiro S.E., Gagel R.F., Sherman S.I., Sellin R.V., Cote G.J., and Evans D.B. Genotype-phenotype analysis in multiple endocrine neoplasia type 1. Arch Surg 137 (2002) 641-647
9. Glascock M.J., and Carty S.E. Multiple endocrine neoplasia type 1: fresh perspective on clinical features and penetrance. Surg Oncol 11 (2002) 143-150
10. Mogensen J., Bahl A., Kubo T., Elanko N., Taylor R., and McKenna W.J. Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 40 (2003) e59
11. Park J.H., Kim I.J., Kang H.C., Lee S.H., Shin Y., Kim K.H., Lim S.B., Kang S.B., Lee K., Kim S.Y., Lee M.S., Lee M.K., Park J.H., Moon S.D., and Park J.G. Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clin Genet 64 (2003) 48-53
12. Reese M.G., Eeckman F.H., Kulp D., and Haussler D. Improved splice site detection in Genie. J Comput Biol 4 (1997) 311-323
13. Manzoni M.F., Franchi G.M., Sartorio S.M., Di Rosa E., Cappelletti C., Piani C., Cattaneo C., Ferrari M., Bosi E., and Carrera P. A novel MEN1 gene mutation. Cancer Genet Cytogenet 180 (2008) 165-167