DETECTION OF RET PROTO-ONCOGENE CYS634ARG MUTATION, THE CAUSE OF MEDULLARY THYROID CARCINOMA, IN AN IRANIAN CHILD

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ALVANDI E.; PEDRAM MEHRDAD; SOROUSH A.R.; NOURI NAYER B.; AKRAMI S.M.

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Journal: Iranian Journal of Pediatrics Year:2007 | Volume:17 | Issue:2 (SUPPLEMENT) Page(s): 301-305

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Title

DETECTION OF RET PROTO-ONCOGENE CYS634ARG MUTATION, THE CAUSE OF MEDULLARY THYROID CARCINOMA, IN AN IRANIAN CHILD

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Keywords

MEDULLARY THYROID CARCINOMAQ3

RET PROTO-ONCOGENEQ3

GERMLINE MUTATIONSQ3

GENETIC COUNSELINGQ3

Abstract

Objective: MEDULLARY THYROID CARCINOMA (MTC) is hereditary in 25% of cases, and occurs primarily in an autosomal dominant manner. Thus, siblings and offspring of a patient diagnosed with a germline mutation are at a 50% risk for carrying the same mutation. Gemurmline tations of RET PROTO-ONCOGENE is the known cause of almost all hereditary MTCs. Mutation analysis of RET is necessary for all apparently sporadic MTC patients. Cases Presentation: In this study, three siblings diagnosed with MTC in a family were analyzed for RET mutations. The result of direct DNA sequencing showed Cys 634 Arg point mutation in all 3 of them. Screening of their offspring and 4th sibling resulted in identification of a 3-year-old boy as a mutation carrier. According to general consensus, he is at second risk level, which qualifies him for prophylactic total thyroidectomy.Conclusion: Molecular analysis of RET PROTO-ONCOGENE should be done in a routine manner to differentiate hereditary MTC patients from sporadic ones. In case of finding a germline mutation, all siblings and offspring of the mutation carrier should be screened and asymptomatic carriers referred to total prophylactic thyroidectomy.

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APA: Copy

ALVANDI, E., PEDRAM, MEHRDAD, SOROUSH, A.R., NOURI NAYER, B., & AKRAMI, S.M.. (2007). DETECTION OF RET PROTO-ONCOGENE CYS634ARG MUTATION, THE CAUSE OF MEDULLARY THYROID CARCINOMA, IN AN IRANIAN CHILD. IRANIAN JOURNAL OF PEDIATRICS, 17(2 (SUPPLEMENT)), 301-305. SID. https://sid.ir/paper/76184/en

Vancouver: Copy

ALVANDI E., PEDRAM MEHRDAD, SOROUSH A.R., NOURI NAYER B., AKRAMI S.M.. DETECTION OF RET PROTO-ONCOGENE CYS634ARG MUTATION, THE CAUSE OF MEDULLARY THYROID CARCINOMA, IN AN IRANIAN CHILD. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2007;17(2 (SUPPLEMENT)):301-305. Available from: https://sid.ir/paper/76184/en

IEEE: Copy

E. ALVANDI, MEHRDAD PEDRAM, A.R. SOROUSH, B. NOURI NAYER, and S.M. AKRAMI, “DETECTION OF RET PROTO-ONCOGENE CYS634ARG MUTATION, THE CAUSE OF MEDULLARY THYROID CARCINOMA, IN AN IRANIAN CHILD,” IRANIAN JOURNAL OF PEDIATRICS, vol. 17, no. 2 (SUPPLEMENT), pp. 301–305, 2007, [Online]. Available: https://sid.ir/paper/76184/en

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