Presymptomatic testing using DNA markers for individuals at risk for familial multiple endocrine neoplasia 2A

Jay B. Lichter, Jingshi Wu, Myron Genel, Stuart D. Flynn, Andrew J. Pakstis, Judith R. Kidd, Kenneth K. Kidd

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

The carrier status of 39 at-risk individuals in 6 multiple endocrine neoplasia 2A families was determined using a DNA based test. We were able to calculate a virtual diagnosis (probability > 95%) for 77% of the individuals and a probable diagnosis (probability > 90%) for 90% of the individuals. This study points out some of the problems of specific pedigree structures that can affect the risk calculation. This study further shows that no single test based on either biochemistry, pathology, or genetics can consistently and unambiguously produce a presymptomatic diagnosis. We also describe two specific examples where DNA testing has helped to resolve clinical uncertainties in at-risk individuals.

Original languageEnglish (US)
Pages (from-to)368-373
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume74
Issue number2
DOIs
StatePublished - Feb 1992

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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