A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 10, 1997, Pages 3487-3492

  Giraud, Sophie ^a   Choplin, Hélène ^b   Teh, Bin Tean ^c   Lespinasse, James ^b   Jouvet, Anne ^d   Labat Moleur, Françoise ^e   Lenoir, Gilbert ^a   Hamon, Béatrice ^b   Hamon, Patrick ^b   Calender, Alain ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b GENERAL HOSPITAL   (France)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d HÔPITAL NEUROLOGIQUE   (France)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ANTICIPATION; ARTICLE; CARCINOGENESIS; CARCINOID; CHILD; CHROMOSOME 11Q; CLINICAL ARTICLE; CYTOGENETICS; EPENDYMOMA; FEMALE; HETEROZYGOSITY LOSS; HUMAN; INSULINOMA; MALE; MULTIPLE ENDOCRINE NEOPLASIA; NONSENSE MUTATION; PANCREAS TUMOR; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROLACTINOMA;

ADULT; AGE OF ONSET; AGED; ALLELES; CYTOGENETICS; DISEASE PROGRESSION; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; PEDIGREE;

EID: 9844226196     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.10.3487     Document Type: Article

References (26)

1. Larsson C, Skogseid B, Öberg 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.
2. Chandrasekharappa SC, Guru SC, Manickam P, et al. 1997 Positionnal cloning of the gene for Multiple Endocrine Neoplasia type 1. Science. 276:404-407.
3. The European Consortium on MEN1. 1997 Identification of the Multiple Endocrine Neoplasia (MEN1) gene from a 1,2 Mb sequence-ready contig of chromosome 11q13. Hum Mol Genet. 6:1177-1183.
4. Shepherd JJ. 1991 The natural history of multiple endocrine neoplasia type 1. Highly uncommon or highly unrecognized. Arch Surg. 126:935-952.
5. Presciuttini S, Varesco L, Sala P, et al. 1994 Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations. Ann Hum Genet. 58:331-342.
6. Rodriguez-Bigas MA, Lee PH, O'Malley L, et al. 1996 Establishment of a hereditary non-polyposis colorectal cancer registry. Dis Colon Rectum. 39:649-653.
7. Lindblom A. 1995 Familial breast cancer and genes involved in breast carcinogenesis. Breast Cancer Res Tr. 34:171-183.
8. Heimdal K, Olsson H, Tretli S, Flodgren P, Borresen A-L, Fossa SD. 1996 Familial testicular cancer in Norway and southern Sweden. Br J Cancer. 73:964-969.
9. Horwitz M, Goode EL, Jarvik GP. 1996 Anticipation in familial leukemia. Am J Hum Genet. 59:990-998.
10. Schalling M, Hudson TJ, Buetow KH, Housman DE. 1993 Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet. 4:135-139.
11. King BL, Peng H-Q, Goss P, et al. 1997 Repeat expansion detection analysis of (CAG)n tracts in tumor cell lines, testicular cancer families. 57:209-214.
12. Teh BT, Cardinal J, Shepherd J, et al. 1995 Genetic mapping of the multiple endocrine neoplasia type 1 locus at 11q13. J Intern Med. 238:249-253.
13. European Consortium on MEN1. 1996 Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. Genomics. 37:354-365.
14. Canzian F, Salovaara R, Hemminki A, et al. 1996 Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res. 56:3331-3337.
15. Linblad K, Zander C, Schalling M, Hudson T. 1994 Growing triplet repeats. Nat Genet. 7:124.
16. Teh BT, Silburn P, Betz R, et al. 1995 Familial periodic cerebellar ataxia without myokimia is mapped to 19cM region in chromosome 19p. Am J Hum Genet. 56:1443-1449.
17. Trump D, Farren B, Wooding C, et al. 1996 Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Q J Med. 89:653-669.
18. Majewski JT, Wilson SD. 1979 The MEA-1 syndrome: An all or none phenomenon. Surgery. 86:475-484.
19. Penrose LS. 1948 The problem of anticipation in pedigrees of dystrophia myotonica. Ann Eugenics. 14:125-132.
20. Thakker RV, Bouloux P, Wooding C, et al. 1989 Association of parathyroid tumors in multiple endocrine neoplasia type 1 with losses of alleles on chromosome 11. N Engl J Med. 312:218-224.
21. Byström C, Larsson C, Blomberg C, et al. 1990 Localization of the MEN1 gene to a small region within chromosome band 11q13 by deletion mapping in tumors. Proc Natl Acad Sci USA. 87:1968-1972.
22. Ransom DT, Ritland SR, Kimmel DW, et al. 1992 Cytogenetic and loss of heterozygosity studies in ependymomas, pilocytic astrocytomas, and oligodendrogliomas. Genes Chrom Cancer. 5:348-256.
23. Dal Cin P, Sandberg AA. 1988 Cytogenetic findings in a supratentorial ependymoma. Cancer Genet Cytogenet. 30:289-293.
24. Sainati L, Montaldi A, Putti MC, et al. 1992 Cytogenetic t(11;17)(q13;q21) in a pediatric ependymoma. Cancer Genet Cytogenet. 59:213-216.
25. Kato H, Morohoshi M, Fujisawa K, et al. 1996 Multiple endocrine neoplasia type 1 associated with spinal ependymoma. Intern Med. 35:285-289.
26. McInnis MG. 1996 Anticipation: An old idea in new genes. Am J Hum Genet. 59:973-979.