A rapid screening method for the detection of mutations in the ret proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families

Debbie J. Marsh, Bruce G. Robinson, Scott Andrew, Anne Louise Richardson, Ruth Pojer, Margaret Schnitzler, Lois M. Mulligan, Valentine J. Hyland

Research output: Contribution to journalArticle

50 Citations (Scopus)

Abstract

Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance. Following the identification of mutations in the RET proto-oncogene that segregate with the disease phenotype in MEN2A, MEN2B, and FMTC, genetic screening of individuals with mutations in RET may be performed. We have employed restriction endonuclease digestion of polymerase chain reaction products as an alternative to sequence analysis for rapid identification of mutant gene carriers in families in which MEN2A and FMTC are segregating. Twenty.one Australasian MEN2A and FMTC families have been screened for mutations in a cysteine-rich region of the RET proto-oncogene. Seven independent mutations were identified in key individuals in 16 of these families. We have identified a mutation in codon 620, 2053 T → C (Cys62OArg), and two mutations in codon 634 of exon 11 of RET, 2095 T → C (Cys634Arg) and 2096 G → A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families.

Original languageEnglish
Pages (from-to)477-479
Number of pages3
JournalGenomics
Volume23
Issue number2
DOIs
Publication statusPublished - 15 Sep 1994

Fingerprint Dive into the research topics of 'A rapid screening method for the detection of mutations in the ret proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families'. Together they form a unique fingerprint.

  • Cite this