Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma

Joint Authors

Hoghooghi Rad, Laleh
Hedayati, Mehdi
Sheikhol Eslami, Sara
Azizi, Fereidoun
Rezghi Barez, Shekoofe
Zarif Yeganeh, Marjan

Source

Journal of Thyroid Research

Issue

Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-6, 6 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2011-06-13

Country of Publication

Egypt

No. of Pages

6

Main Subjects

Biology
Diseases
Medicine

Abstract EN

Medullary thyroid carcinoma occurs in both sporadic (75%) and hereditary (25%) forms.

The missense mutations of RET proto-oncogene in MTC development have been well demonstrated.

To investigate the spectrum of predominant RET germline mutations in exons 10, 11, and 16 in hereditary MTC in Iranian population, 217 participants were included.

Genomic DNAs were extracted from the leukocytes using the standard Salting Out/Proteinase K method.

Mutation detection was performed through PCR-RFLP and DNA sequencing.

In 217 participants, 43 missense mutations were identified in exons 10 (6%), 11 (13%), and 16 (0.9%).

Moreover, a novel germline mutation was detected in exon 11 (S686N).

Also four different polymorphisms were found in intron 16 in eight patients.

The obtained data showed the frequency profile of RET mutations in Iranian individuals with MTC (19.8%).

The most frequent mutation in our population was C634G whereas in most population it was C634R.

Altogether, these results underline the importance of the genetic background of family members of any patient with MTC.

American Psychological Association (APA)

Hedayati, Mehdi& Zarif Yeganeh, Marjan& Sheikhol Eslami, Sara& Rezghi Barez, Shekoofe& Hoghooghi Rad, Laleh& Azizi, Fereidoun. 2011. Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. Journal of Thyroid Research،Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-458636

Modern Language Association (MLA)

Hedayati, Mehdi…[et al.]. Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. Journal of Thyroid Research No. 2011 (2011), pp.1-6.
https://search.emarefa.net/detail/BIM-458636

American Medical Association (AMA)

Hedayati, Mehdi& Zarif Yeganeh, Marjan& Sheikhol Eslami, Sara& Rezghi Barez, Shekoofe& Hoghooghi Rad, Laleh& Azizi, Fereidoun. Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. Journal of Thyroid Research. 2011. Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-458636

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-458636