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Year : 2014  |  Volume : 18  |  Issue : 4  |  Page : 516-520

RET mutations in a large indian family with medullary thyroid carcinoma

1 Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India
2 Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India
3 Department of Endocrine Surgery, Christian Medical College, Vellore, Tamil Nadu, India

Correspondence Address:
Simon Rajaratnam
Department of Endocrinology and Metabolism, Christian Medical College, Vellore, Tamil Nadu 632 004
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2230-8210.137508

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Background: Medullary thyroid carcinoma (MTC) is a tumor arising from the para follicular (C) cells of the thyroid gland and can occur either sporadically or as part of an inherited syndrome. A proportion of these cases carry an autosomal dominant mutation in the RET (REarranged during Transfection) proto-oncogene. Screening for these mutations in the affected patients and the carriers ''at risk'' which includes the first-degree relatives is of utmost importance for early detection and prompt treatment including prophylactic thyroidectomy in cases that harbor these mutations. Results: This report presents details of screening and subsequent follow-up of a large Indian family, where the index case was found to carry p.Cys634Ser mutation involving exon 11 of the RET gene. These data are of value considering the paucity of information within the region in context of screening large families affected by these mutations.

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