ArticleMedicine2017
Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07397403 (The Efficacy of Doxycycline Post Exposure Prophylaxis for Preventing Sexually Transmitted Diseases), which is not on this map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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The Efficacy of Doxycycline Post Exposure Prophylaxis for Preventing Sexually Transmitted Diseases (Gonorrhea, Chlamydia, Syphilis) Among Men Who Have Sex With Men in Bangkok, Thailand.
Who cites it
6 citing papers in PubMed.
- Review
- Review
- Hereditary Gynecologic Cancer Syndromes - A Narrative Review.OncoTargets and therapy · 2022Review
- Identification of Novel Insulin Resistance Related ceRNA Network in T2DM and Its Potential Editing by CRISPR/Cas9.International journal of molecular sciences · 2021Article
- Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.Endocrine connections · 2018Article
- The RET C611Y mutation causes MEN 2A and associated cutaneousEndocrine connections · 2018Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroudMultiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population.
methodsAll members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics. Exome sequencing was performed on the 3 probands, and specific mutation in RET was further screened on each of the family members.
resultsDifferent mutations in the RET gene were identified: C634S in Family 1, C611Y in Family 2, and C634Y in Family 3. Proband 1 mainly showed pheochromocytoma with MTC, both medullary thyroid carcinoma and pheochromocytoma were seen in proband 2, and proband 3 showed medullary thyroid carcinoma.
conclusionThe genetic evaluation is strongly recommended for patients with a positive family history, early onset of age, or multiple sites of masses. If the results verified the mutations of RET gene, thyroidectomy should be undertaken as the guide for better prognosis.
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