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Genetic Screening for RET Mutations in Families with Multiple Endocrine Neoplasia 2 Syndromes
Author(s) -
ALEVIZAKI M.,
SARIKA H.,
KOUTRAS D. A.,
SOUVATZOGLOU A.
Publication year - 1997
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1997.tb52166.x
Subject(s) - medicine , endocrine system , section (typography) , hormone , advertising , business
Mutations in the RET proto-oncogene have recently been recognized to be responsible for the inherited multiple endocrine neoplasia type 2 syndrome. As expected, Greek patients with MEN2 and FMTC carry RET mutations similar to those of other ethnic groups. In those regions of the gene that were analyzed, mutations were detected in six out of six families with classical MEN2A, three out of five of the families with familial MTC, and one case with MEN2B. Presymptomatic screening using DNA analysis has now replaced calcitonin stimulation tests in the offspring of families where the mutation has been characterized. The use of these methods will improve the prognosis in MEN2 patients and will also reduce the psychological burden of risk for a potentially lethal disease on family members.