ArticleIndian journal of endocrinology and metabolism2014
RET mutations in a large indian family with medullary thyroid carcinoma.
Article in Indian journal of endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- An audit of medullary thyroid carcinoma from a tertiary care hospital in northwest India.Frontiers in endocrinology · 2023Article
- Hereditary medullary thyroid carcinoma syndromes: experience from western India.Familial cancer · 2021Article
- Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.Medicine · 2017Article
- Long-term Clinicopathological Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by C634RIndian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaArticle
- Clinical Profile of Medullary Thyroid Carcinoma: Audit from a Tertiary Care Center in South India.Indian journal of endocrinology and metabolismArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMedullary 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.
resultsThis 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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