title: RET mutations in a large indian family with medullary thyroid carcinoma.
abstract: 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.
authors.affiliation: Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: D M
authors.initials: DM
authors.lastname: Mahesh
authors.affiliation: Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Arun G
authors.initials: AG
authors.lastname: Nehru
authors.affiliation: Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: M S
authors.initials: MS
authors.lastname: Seshadri
authors.affiliation: Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Nihal
authors.initials: N
authors.lastname: Thomas
authors.affiliation: Department of Endocrine Surgery, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Aravindan
authors.initials: A
authors.lastname: Nair
authors.affiliation: Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Pai
authors.affiliation: Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Simon
authors.initials: S
authors.lastname: Rajaratnam
keywords: MTC; RET gene; medullary thyroid carcinoma; mutations