ArticleJournal of biosciences2011
RET gene mutations and polymorphisms in medullary thyroid carcinomas in Indian patients.
Article in Journal of biosciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.Cancer medicine · 2019Pooled it
- Quantitative assessment of the association between L769L and S836S polymorphisms at RET gene and medullary thyroid carcinoma risk.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in theCancers · 2023Review
- Hereditary medullary thyroid carcinoma syndromes: experience from western India.Familial cancer · 2021Article
- Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.World journal of surgery · 2021Article
- Updates in the advances of sporadic medullary thyroid carcinoma: from the molecules to the clinic.Gland surgery · 2020Review
- Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.Endocrine connections · 2020Article
- RET Proto-oncogene Gene Mutation Is Related to Cervical Lymph Node Metastasis in Medullary Thyroid Carcinoma.Endocrine pathology · 2019Article
- A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.Archives of endocrinology and metabolism · 2018Article
- Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.Thyroid : official journal of the American Thyroid Association · 2017Article
- Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey.Journal of clinical research in pediatric endocrinology · 2016Article
- Genotype-Phenotype Correlation in Indian Patients with MEN2-Associated Pheochromocytoma and Comparison of Clinico-Pathological Attributes with Apparently Sporadic Adrenal Pheochromocytoma.World journal of surgery · 2016Article
- Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma.PloS one · 2016Article
- RET mutations in a large indian family with medullary thyroid carcinoma.Indian journal of endocrinology and metabolism · 2014Article
- Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation.The Indian journal of medical research · 2014Article
- Haplotype Frequency of G691S/S904S in the RET Proto-Onco-gene in Patients with Medullary Thyroid Carcinoma.Iranian journal of public health · 2014Article
- Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms.International journal of molecular sciences · 2012Review
- 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
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations of RET gene are pathognomonic of multiple endocrine neoplasia (MEN; MEN 2A/MEN 2B) and familial medullary thyroid carcinoma (FMTC), constituting 25% of medullary thyroid carcinomas (MTCs). We investigated RET gene mutations and polymorphisms at exons 10, 11, 13, 14, 15 and 16 in 140 samples, comprising 51 clinically diagnosed MTC patients, 39 family members of patients and 50 normal individuals. The method of choice was PCR and direct nucleotide sequencing of the PCR products. RET gene mutations were detected in 15 (29.4%) patients, with MEN 2A/FMTC in 13 patients and MEN 2B in 2 patients. Further, 39 family members of seven index cases were analysed, wherein four of the seven index cases showed identical mutations, in 13 of 25 family members. We also examined single nucleotide polymorphisms (SNPs) in RET gene exons in 101 unrelated samples. Significant differences in the allelic frequencies of SNPs at codons 691, 769, 836 and 904 between patient and control groups were not observed. However, SNP frequencies were significantly different in the Indian group as compared with other European groups. We identified two novel, rare and unique SNPs separately in single patients. Our study demonstrated presence of MEN 2A/MEN 2B/FMTC-associated mutations in accordance with the reported literature. Thus, RET gene mutations in exons 10, 11, 13, 14, 15 and 16 constitute a rapid test to confirm diagnosis and assess risk of the disease in familial MEN 2A/MEN 2B/FMTC.
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