GERMLINE RET MUTATIONS IN EXONS 10 AND 11: AN IRANIAN SURVEY OF 57 MEDULLARY THYROID CARCINOMA CASES

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HEDAYATI M.; NABIPOUR I.; REZAEI GHALEH N.A.; AZIZI FEREYDOUN

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Journal: IRANIAN JOURNAL OF ENDOCRINOLOGY AND METABOLISM (IJEM) Year:2006 | Volume:8 | Issue:1 (SN 29) Page(s): 25-30

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Title

GERMLINE RET MUTATIONS IN EXONS 10 AND 11: AN IRANIAN SURVEY OF 57 MEDULLARY THYROID CARCINOMA CASES

Author(s)

HEDAYATI M. | NABIPOUR I. | REZAEI GHALEH N.A. | AZIZI FEREYDOUN | Issue Writer Certificate

Keywords

MEDULLARY THYROID CARCINOMAQ3

RET PROTO-ONCOGENEQ3

MULTIPLE ENDOCRINE NEOPLASIAQ3

MUTATION ANALYSISQ3

Abstract

Introduction: MEDULLARY THYROID CARCINOMA (MTC) occurs in either sporadic or hereditary forms.The susceptibility gene for hereditary MTC is the RET PROTO-ONCOGENE. The aim of this study was to evaluate the prevalence of common germline RET mutations in exons 10 and 11 among Iranian MTC patients. Materials and Methods: 57 non-related MTC patients were examined in this survey (F: M=1.2:1.0, 40.0±11.5 years). Genomic DNA was extracted from their peripheral blood samples and exons 10 and 11 of the RET PROTO-ONCOGENE were amplified using polymerase chain reaction (PCR). The PCR products were then digested by specific restriction enzymes and the Restriction Fragment Length Polymorphism (RFLP) patterns were analyzed for common RET mutations in exons 10 and 11. Results: Only the MEN2Apatient displayed a C634W mutation in exon 11. Three of the six first-degree relatives of the MEN2 Aevaluated patient had the same mutation. Among apparently sporadic MTC patients (53 cases), one patient showed a C620R mutation in exon 10 and two other patients displayed C634Ymutations in exon 11 of the RET PROTO-ONCOGENE. Neither were the only MEN2 Bpatient nor the two FMTC patients found to carry germline mutations in exons 10 and 11 of the RET PROTO-ONCOGENE. It seems that the prevalence of germline RET mutations in exons 10 or 11 is prominent (5.7%) among Iranian, apparently sporadic, MTC patients. Conclusion: We conclude that a routine germline MUTATION ANALYSIS of the RET PROTO-ONCOGENE should be advised for apparently sporadic MTC patients. Hereditary forms of MTC require a more extended investigation for RET mutations.

Cites

FREQUENT GERM LINE MUTATIONS IN RET PROTO-ONCOGENE EXONS 10 AND 11 IN HEREDITARY MEDULLARY THYROID CARCINOMAS OF IRANIAN PATIENTS

References

THE MUTATIONS OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMAS IN IRAN

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APA: Copy

HEDAYATI, M., NABIPOUR, I., REZAEI GHALEH, N.A., & AZIZI, FEREYDOUN. (2006). GERMLINE RET MUTATIONS IN EXONS 10 AND 11: AN IRANIAN SURVEY OF 57 MEDULLARY THYROID CARCINOMA CASES. IRANIAN JOURNAL OF ENDOCRINOLOGY AND METABOLISM (IJEM), 8(1 (SN 29)), 25-30. SID. https://sid.ir/paper/27306/en

Vancouver: Copy

HEDAYATI M., NABIPOUR I., REZAEI GHALEH N.A., AZIZI FEREYDOUN. GERMLINE RET MUTATIONS IN EXONS 10 AND 11: AN IRANIAN SURVEY OF 57 MEDULLARY THYROID CARCINOMA CASES. IRANIAN JOURNAL OF ENDOCRINOLOGY AND METABOLISM (IJEM)[Internet]. 2006;8(1 (SN 29)):25-30. Available from: https://sid.ir/paper/27306/en

IEEE: Copy

M. HEDAYATI, I. NABIPOUR, N.A. REZAEI GHALEH, and FEREYDOUN AZIZI, “GERMLINE RET MUTATIONS IN EXONS 10 AND 11: AN IRANIAN SURVEY OF 57 MEDULLARY THYROID CARCINOMA CASES,” IRANIAN JOURNAL OF ENDOCRINOLOGY AND METABOLISM (IJEM), vol. 8, no. 1 (SN 29), pp. 25–30, 2006, [Online]. Available: https://sid.ir/paper/27306/en

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