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Research Article| Volume 116, ISSUE 6, P1042-1047, December 1994

Clinical value of direct DNA analysis of the RET proto-oncogene in families with multiple endocrine neoplasia type 2A

  • Gerald L. Feldman
    Affiliations
    From the Medical Genetics and Birth Defects Center and the Division of Clinical and Molecular Genetics, and the Division of General Surgery, Henry Ford Hospital, Detroit, Mich., USA

    Cancer Research Campaign Human Genetics Group, Department of Pathology, University of Cambridge, Cambridge, U.K.
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  • Marios Kambouris
    Affiliations
    From the Medical Genetics and Birth Defects Center and the Division of Clinical and Molecular Genetics, and the Division of General Surgery, Henry Ford Hospital, Detroit, Mich., USA

    Cancer Research Campaign Human Genetics Group, Department of Pathology, University of Cambridge, Cambridge, U.K.
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  • Gary B. Talpos
    Affiliations
    From the Medical Genetics and Birth Defects Center and the Division of Clinical and Molecular Genetics, and the Division of General Surgery, Henry Ford Hospital, Detroit, Mich., USA

    Cancer Research Campaign Human Genetics Group, Department of Pathology, University of Cambridge, Cambridge, U.K.
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  • Lois M. Mulligan
    Affiliations
    From the Medical Genetics and Birth Defects Center and the Division of Clinical and Molecular Genetics, and the Division of General Surgery, Henry Ford Hospital, Detroit, Mich., USA

    Cancer Research Campaign Human Genetics Group, Department of Pathology, University of Cambridge, Cambridge, U.K.
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  • Bruce A.J. Ponder
    Affiliations
    From the Medical Genetics and Birth Defects Center and the Division of Clinical and Molecular Genetics, and the Division of General Surgery, Henry Ford Hospital, Detroit, Mich., USA

    Cancer Research Campaign Human Genetics Group, Department of Pathology, University of Cambridge, Cambridge, U.K.
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  • Charles E. Jackson
    Correspondence
    Reprint requests: Charles E. Jackson, MD, Division of Clinical and Molecular Genetics, Department of Medicine, Henry Ford Hospital, Detroit, MI 48202.
    Affiliations
    From the Medical Genetics and Birth Defects Center and the Division of Clinical and Molecular Genetics, and the Division of General Surgery, Henry Ford Hospital, Detroit, Mich., USA

    Cancer Research Campaign Human Genetics Group, Department of Pathology, University of Cambridge, Cambridge, U.K.
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DOI:https://doi.org/10.5555/uri:pii:0039606094903026
Clinical value of direct DNA analysis of the RET proto-oncogene in families with multiple endocrine neoplasia type 2A
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      Abstract

      Background. The multiple endocrine neoplasia type 2A gene is the RET proto-oncogene located on the long arm of chromosome 10, and many mutations within this gene have been reported.
      Methods. Peripheral blood DNA was analyzed from 95 members of twelve families with multiple endocrine neoplasia type 2A and known mutations in codon 634 (of exon 11) of the RET proto-oncogene. This region was amplified by the polymerise chain reaction, followed by digestion with Cfo I, which detects restriction sites created by the most common TGC->CGC mutation and by a TGC->TGG mutation or with Rsa I, which detects a restriction site created by a TGC->TAC mutation.
      Results. Diagnoses were confirmed in 39 patients; 1,5 of 56 at-risk persons were gene carriers and 41 were noncarriers. The noncarriers included seven persons who had previously undergone thyroidectomies for suspected C-cell hyperplasia but were negative for the RET mutation present in affected members of their families.
      Conclusions. Identification of the specific gene alterations within families permits direct DNA diagnosis of at-risk family members. The 41 noncarriers will not require further testing nor need to be concerned about transmitting multiple endocrine neoplasia type 2A to their descendants. The normal DNA findings in seven of these persons emphasize the importance of DNA studies in patients with C-cell hyperplasia but no medullary thyroid cancer at operation.
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      Article info

      Footnotes

      ☆Supported in part by the Dykstra Foundation.

      ☆☆Presented at the Fifteenth Annual Meeting of the American Association of Endocrine Surgeons, Dearborn, Mich., April 17–19, 1994.

      Identification

      DOI: https://doi.org/10.5555/uri:pii:0039606094903026

      Copyright

      © 1994 Published by Elsevier Inc.

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