Open AccessRET mutations in a large indian family with medullary thyroid carcinoma
Author(s) -
D M Mahesh,
Arun G. Nehru,
M. S. Seshadri,
Nihal Thomas,
Aravindan Nair,
Rekha Pai,
Simon Rajaratnam
Publication year - 2014
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.137508
Subject(s) - medicine , thyroid carcinoma , context (archaeology) , thyroid , mutation , medullary cavity , index case , thyroidectomy , exon , medullary carcinoma , gene , pathology , cancer research , genetics , biology , paleontology , disease
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.