Medical Journal of the Islamic Republic Of Iran
مجله پزشکی جمهوری اسلامی ایران
Med J Islam Repub Iran
Medical Sciences
http://mjiri.iums.ac.ir
2
journal2
1016-1430
2251-6840
8
10.18869/mjiri
14
8888
13
en
jalali
1383
6
1
gregorian
2004
9
1
18
2
online
1
fulltext
en
THE MUTATIONS OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMAS IN IRAN
Endocrinology
Endocrinology
Original Research: Clinical Science
Original Research: Clinical Science
MeduIIary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal
dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The
distinction between true sporadic MTC and a new mutation familial case is important
for future clinical management of both the patient and family. The susceptibility gene for
hereditary MTC is the RET proto-oncogene. DNA analysis for germline mutations of
the RET proto-oncogene was performed in a series of 24 patients with MTC [apparently
sporadic MTC (20 cases), familial MTC (2 cases), MEN 2A (one case) and
MEN 2B (one case)] to determine whether they were true sporadic cases or hereditary
forms. Genomic DNA was amplified using polymerase chain reaction (PCR) and
oligonucleotide primers for exons 10 & I 1. The PCR products were examined by
restriction enzymes analysis to detect the mutations. One of the 20 patients with apparent
sporadic MTC had exon 10 mutation (Cys-620 Arg) and exon I I mutation (Cys-
634 Trp) was also found in the index case with MEN 2A. No mutation was detected in
the other patients. Three of six evaluated members of the MEN 2A patient had the
same mutation. We conclude that routine application of RET proto-oncogene testing
should be included in all cases of apparent sporadic MTC.
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http://mjiri.iums.ac.ir/browse.php?a_code=A-10-298-83&slc_lang=en&sid=1
IRAJ
NABIPOUR
20031947532846003543
20031947532846003543
Yes
From the Endocrine Research Center; Shaheed Beheshti University of Medical Sciences, Tehran, the Persian Gulf Health Research Center; Bushehr University of Medical Sciences, Bushehr and the Endocrine Research Center, Tehran University of Medical Sciences, Tehran, Iran.
FATEMEH
HAJI-GHASEMI
20031947532846003544
20031947532846003544
No
SHAHRIAR
KIAI
20031947532846003545
20031947532846003545
No
REZA
BARADAR-JALILI
20031947532846003546
20031947532846003546
No
FEREIDOUN
AZIZI
20031947532846003547
20031947532846003547
No