Elsevier

Genomics

Volume 23, Issue 2, 15 September 1994, Pages 477-479
Genomics

Short Communication
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

https://doi.org/10.1006/geno.1994.1526Get rights and content

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.

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