Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

American Journal of Human Genetics

Volumn 63, Issue 2, 1998, Pages 455-467

  Giraud, Sophie ^a,c   Zhang, Chang X ^a,c   Serova Sinilnikova, Olga ^a,c   Wautot, Virginie ^a,c   Salandre, Janine ^a   Buisson, Nathalie ^a   Waterlot, Christine ^f   Bauters, Catherine ^f,h   Porchet, Nicole ^g   Aubert, Jean Pierre ^g   Emy, Philippe ⁱ   Cadiot, Guillaume ^j   Delemer, Brigitte ^j   Chabre, Olivier ^k   Niccoli, Patricia ^l   Leprat, Frédéric ^m   Duron, Francoise ⁿ   Emperauger, Brigitte ⁿ   Cougard, Patrick ^q   Goudet, Pierre ^q   Sarfati, Emile ^o   Riou, Jean Paul ^b   Guichard, Sylvie ^b   Rodier, Michel ^r   Meyrier, Alain ^s   Caron, Philippe ^t   Vantyghem, Marie Christine ^f   Assayag, Michel ^p   Peix, Jean Louis ^d   Pugeat, Michel ^d   Rohmer, Vincent ^u   Vallotton, Michel ^u   Lenoir, Gilbert ^a,c   Gaudray, Patrick ^v   Proye, Charles ^f   Conte Devolx, Bernard ^l   Chanson, Philippe ^w   Shugart, Yin Y ^x   Goldgar, David ^e   Murat, Arnaud ^y   Calender, Alain ^a,c   more..

^a Service de Génétique   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

^d Hopital de l'Antiquaille   (France)

^e INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g INSERM   (France)

^h Centre Hospitalier Germon et Gauthier   (France)

ⁱ CENTRE HOSPITALIER   (France)

^j REIMS UNIVERSITY HOSPITAL   (France)

^k GRENOBLE UNIVERSITY HOSPITAL   (France)

^l TIMONE HOSPITAL   (France)

^m HAUT LÉVÊQUE HOSPITAL   (France)

ⁿ HÔPITAL SAINT ANTOINE   (France)

^o SAINT LOUIS HOSPITAL   (France)

^p HÔPITAL LARIBOISIÈRE   (France)

^q HÔPITAL DU BOCAGE   (France)

^r NÎMES UNIVERSITY HOSPITAL   (France)

^s AVICENNE HOSPITAL   (France)

^t CHU PURPAN   (France)

^u Hôpital universitaire   (Switzerland)

^v UNIVERSITÉ CÔTE D'AZUR   (France)

^w BICÊTRE HOSPITAL   (France)

^x UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^y HÔTEL DIEU   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GERM LINE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE ENDOCRINE NEOPLASIA; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032231708     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301953     Document Type: Article

References (46)

1. Argawal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, et al (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 6: 1169-1175
2. Bassett JHD, Forbes SA, Pannett AAJ, Lloyd SE, Christie PT, Wooding C, Harding B, et al (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 62:232-244
3. Bystrom C, Larsson C, Blomberg C, Sandelin K, Falkmer U, Skogseid B, Oberg K, et al (1990) Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. Proc Natl Acad Sci USA 87: 1968-1972
4. Calender A, Giraud S, Cougard P, Chanson P, Lenoir GM, Murat A, Hamon P, et al (1995) Multiple endocrine neoplasia type 1 in France: clinical and genetic studies. J Intern Med 238:263-268
5. Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, et al (1997) Positional cloning of the gene for multiple endocrine neoplasia type 1. Science 276:404-407
6. Chanson P, Cadiot G, Murat A, and the GENEM 1 (1997) Management of patients and subjects at risk for multiple endocrine neoplasia type 1: MEN1. Horm Res 47:211-220
7. Courseaux A, Grosgeorge J, Gaudray P, Pannett AA, Forbes SA, Williamson C, Bassett D, et al (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13: the European Consortium on Men1 (GENEM 1: Groupe d'Étude des Neoplasies Endocriniennes Multiples de type 1). Genomics 37:354-365
8. Darling TN, Skarulis MC, Steinberg SM, Marx SJ, Spiegel AM, Turner ML (1997) Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol 133:853-857
9. Debelenko LV, Brambilla E, Argawal SK, Swalwell JI, Kester MB, Lubensky IA, Zhuang ZP, et al (1997) Identification of MEN1 gene mutations in sporadic carcinoid of the lung. Hum Mol Genet 6:2285-2290
10. European Consortium on MEN1, The (1997) Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1). Hum Genet 100:657-665
11. Friedman E, Sakaguchi K, Bale AE, Falchetti A, Streeten E, Zimering MB, Weinstein LS, et al (1989) Clonality of parathyroid tumors in familial multiple endocrine neoplasia type 1. N Engl J Med 321:213-218
12. Giraud S, Choplin H, Teh BT, Lespinasse J, Jouvet A, Labat-Moleur F, Lenoir GM, et al (1997) A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab 82: 3487-3492
13. Guru SC, Goldsmith PK, Burns AL, Marx SJ, Spiegel AM, Collins FS, Chandrasekharappa SC (1998) Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci USA 95:1630-1634
14. Heppner C, Kester MB, Argawal SK, Debelenko LV, Emmert-Buck MR, Guru SC, Manickam P, et al (1997) Somatic mutation of the MEN1 gene in parathyroid tumors. Nat Genet 16:375-378
15. Hessman O, Lindberg D, Skogseid B, Carling T, Hellman P, Rastad J, Akerström G, et al (1998) Mutation of the multiple endocrine neoplasia type 1 gene in nonfamilial, malignant tumors of the endocrine pancreas. Cancer Res 58:377-379
16. Kato H, Uchimura I, Morohoshi M, Fujisawa K, Kobayashi Y, Numano F, Goseki N, et al (1996) Multiple endocrine neoplasia type 1 associated with spinal ependymoma. Intern Med 35:285-289
17. Kishi M, Tsukada T, Shimizu S, Futami H, Ito Y, Kanbe M, Obara T, et al (1998) A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1. Jpn J Cancer Res 89:1-5
18. Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
19. Larsson C, Calender A, Grimmond S, Giraud S, Hayward NK, Teh BT, Farnebo F (1995) Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1. J Intern Med 238:239-244
20. Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjöld M (1988) Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 332: 85-87
21. Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, et al (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene: the European Consortium on MEN1. Hum Mol Genet 6:1177-1183
22. Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
23. Mayr B, Apenberg S, Kothämel T, von zur Mühlen A, Brabant G (1997) Menin mutations in patients with multiple endocrine neoplasia type 1. Eur J Endocrinol 137:684-687
24. Metz DC, Jensen RT, Bale AE, Skarulis MC, Eastman RC, Nieman E, Norton JA, et al (1994) Multiple endocrine neoplasia type 1: clinical features and management. In: Bilezikian JP, Levine MA, Marcus R (eds) The parathyroids. Raven Press, New York, pp 591-645
25. O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 11:402-408
26. Olufemi SE, Green JS, Manickam P, Guru SC, Agarwal SK, Kester MB, Burns AL, et al (1998) Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1 Burin) in four kindreds from Newfoundland. Hum Mutat 11:264-269
27. Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. Am J Hum Genet 54:1060-1066
28. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, et al (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-1303
29. Prezant TR, Levine J, Melmed S (1998) Molecular characterization of the MEN1 tumor suppressor gene in sporadic pituitary tumors. J Clin Endocrinol Metab 83:1388-1391
30. Radford DM, Ashley SW, Wells SA Jr, Gerhard DS (1990) Loss of heterozygosity of markers on chromosome 11 in tumors from patients with multiple endocrine neoplasia syndrome type 1. Cancer Res 50:6529-6533
31. Sakurai A, Katai M, Itakura Y, Nakajima K, Baba K, Hashizume K (1996) Genetic screening in hereditary multiple endocrine neoplasia type 1: absence of a founder effect among Japanese families. Jpn J Cancer Res 87:985-994
32. Sambrook J, Fritsch EF, Maniatis T (1989) Extraction, purification and analysis of messenger RNA in eucaryotic cells. In: Molecular cloning, a laboratory manual, 2d. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, pp 6-26
33. Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, Goldgar D, et al (1997) Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast-cancer susceptibility genes? Am J Hum Genet 60:486-495
34. Sheperd JJ (1991) The natural history of multiple endocrine neoplasia type 1: highly uncommon or highly unrecognized? Arch Surg 126:935-952
35. Shimizu S, Tsukada T, Futami H, Ui K, Kameya T, Kawanaka M, Uchiyama S, et al (1997) Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1. Jpn J Cancer Res 88:1029-1032
36. Skogseid B, Oberg K (1995a) Adrenal lesion in multiple endocrine neoplasia type 1. Surgery 118:1077-1082
37. Skogseid B, Oberg K (1995b) Experience with multiple endocrine neoplasia type 1 screening. J Intern Med 238: 255-261
38. Stock JE, Warth MR, Teh BT, Coderre JA, Overdorf JH, Baumann G, Hintz RL, et al (1997) A kindred with a variant of multiple endocrine neoplasia type 1 demonstrating frequent expression of pituitary tumors but not linked to the multiple endocrine neoplasia type 1 locus at chromosome region 11q13. J Clin Endocrinol Metab 82:486-492
39. Teh BT, Farnebo F, Kristofferson U, Sundelin B, Cardinal J, Axelson R, Yap A, et al (1996a) Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 81:4204-4211
40. Teh BT, McArdle J, Parameswaran V, David R, Larsson C, Sheperd J (1996b) Sporadic primary hyperparathyroidism in the setting of multiple endocrine neoplasia type 1. Arch Surg 131:1230-1232
41. Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, Edwards CR, et al (1996) Clinical studies of multiple endocrine neoplasia type 1. QJM 89:653-669
42. Wassif WS, Moniz CF, Friedman E, Wong S, Weber G, Nordenskjöld M, Peters TJ, et al (1993) Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab 77:1485-1489
43. Weitzmann MN, Woodford KJ, Usdin K (1997) DNA secondary structures and the evolution of hypervariable tandem arrays. J Biol Chem 272:9517-9523
44. Wermer P (1954) Genetic aspects of adenomatosis of endocrine glands. Am J Med 16:363-375
45. Zhuang Z, Ezzat SZ, Vortmeyer AO, Weil R, Oldfield EH, Park WS, Pack S, et al (1997a) Mutations of the MEN1 tumor suppressor gene in pituitary tumors. Cancer Res 57: 5446-5451
46. Zhuang Z, Vortmeyer AO, Pack S, Huang S, Pham TA, Wang C, Park WS, et al (1997b) Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Res 57:4682-4686