Cancer Letters
Volume 208, Issue 1 , Pages 81-88 , 10 May 2004

Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1

  • Mariko Kikuchi

      Affiliations

    • Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
    • Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan
  • ,
  • Naganari Ohkura

      Affiliations

    • Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
  • ,
  • Ken Yamaguchi

      Affiliations

    • Growth Factor Division, National Cancer Center Research Institute, Tokyo, Japan
  • ,
  • Takao Obara

      Affiliations

    • Department of Endocrine Surgery, Tokyo Women's Medical University, Tokyo, Japan
  • ,
  • Toshihiko Tsukada

      Affiliations

    • Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81-3-3542-2511x4305; fax: +81-3-3542-8170

Received 7 October 2003 ,Accepted 7 October 2003.

References 

  1. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am. J. Med. 1954;16:363–371
  2. Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, et al.  Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Q. J. Med. 1996;89:653–669
  3. Chandrasekharappa SC, Guru SC, Manickam P, Olufemi S-E, Collins FS, Emmert-Buck MR, et al.  Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997;276:404–407
  4. Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, et al.  Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum. Mol. Genet. 1997;6:1169–1175
  5. Tsukada T, Yamaguchi K, Kameya T. The MEN1 gene and associated diseases: an update. Endocr. Pathol. 2001;12:259–273
  6. Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, et al.  Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum. Mutat. 2002;20:35–47
  7. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al.  Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab. 2001;86:5658–5671
  8. Shimizu S, Tsukada T, Futami H, Ui K, Kameya T, Kawanaka M, et al.  Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1. Jpn J. Cancer. Res. 1997;1029–1032
  9. Kishi M, Tsukada T, Shimizu S, Futami H, Ito Y, Kanbe M, et al. A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1. Jpn J. Cancer Res. 1998;89:1–5
  10. Deng G, Yu M, Smith HS. An improved method of competitive PCR for quantitation of gene copy number. Nucleic Acids Res. 1993;21:4848–4849
  11. Celi FS, Cohen MM, Antonarakiss SE, Wertheimer E, Roth J, Shuldiner AR. Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences. Genomics. 1994;21:304–310
  12. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al.  Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253:665–669
  13. Katz P, Whalen G, Kehrl JH. Differential expression of a novel protein kinase in human B lymphocytes. Preferential localization in the germinal center. J. Biol. Chem. 1994;269:16802–16809
  14. Guru SC, Olufemi S-E, Manickam P, Cummings C, Gieser LM, Pike BL, et al.  A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13. Genomics. 1997;42:436–445
  15. Nicolaides NC, Chang S-Y, Aaltonen LA, Moisio A-L. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat. Med. 1995;1:1203–1206

PII: S0304-3835(03)00709-2

doi: 10.1016/j.canlet.2003.10.011

Cancer Letters
Volume 208, Issue 1 , Pages 81-88 , 10 May 2004