ArticlePloS one2011
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Thyroid : official journal of the American Thyroid Association · 2015Guideline
- Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.Cancers · 2021Article
- Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.BMC cancer · 2021Article
- Molecular Profiling of 22 Primary Atypical Meningiomas Shows the Prognostic Significance of 18q Heterozygous Loss andCancers · 2021Article
- The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.Journal of cellular and molecular medicine · 2020Article
- 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.Frontiers in endocrinology · 2020Review
- Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.Journal of biosciences · 2017Article
- Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report.Oncology letters · 2016Article
- Survivin and XIAP: two valuable biomarkers in medullary thyroid carcinoma.British journal of cancer · 2016Article
- RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.Oncotarget · 2015Article
- Postoperative Nomogram for Predicting Cancer-Specific Mortality in Medullary Thyroid Cancer.Annals of surgical oncology · 2015Article
- Insights from exome sequencing for endocrine disorders.Nature reviews. Endocrinology · 2015Review
- Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.Current opinion in endocrinology, diabetes, and obesity · 2015Review
- The study of homology between tumor progression genes and members of retroviridae as a tool to predict target-directed therapy failure.Frontiers in pharmacology · 2015Article
- Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.Hereditary cancer in clinical practice · 2015Article
- The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.Journal of biosciences · 2014Article
- Diagnosis and surgical treatment of multiple endocrine neoplasia type 2A.World journal of surgical oncology · 2014Article
- Novel host genetic variations associated with spontaneous clearance of a single-source outbreak of HCV1b infections.BMJ open gastroenterology · 2014Article
- Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.Journal of endocrinological investigation · 2013Article
- A differential diagnosis of inherited endocrine tumors and their tumor counterparts.Clinics (Sao Paulo, Brazil) · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary disorders in which the pathogenic gene harbors a large cohort of exons. We set out to demonstrate a suitable example of genetic diagnosis of MEN 2A/FMTC (multiple endocrine neoplasia type 2/familial medullary thyroid carcinoma) using this approach. METHODOLOGY/PRINCIPAL
findingsWe sequenced the whole exome of six individuals from a large Chinese MEN2A/FMTC pedigree to identify the variants of the RET (REarranged during Transfection) protooncogene and followed this by validation. Then prophylactic or surgical thyroidectomy with modified or level VI lymph node dissection and adrenalectomy were performed for the carriers. The cases were closely followed up. Massively parallel sequencing revealed four missense mutations of RET. We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C634Y/V292M/R67H/R982C compound mutation, due to the involvement of p.C634Y in the proband with MEN 2A and p.V292M/R67H/R982C in the proband's husband with FMTC. In the maternal origin, p.C634Y caused bilateral MTC in all 5 cases and bilateral pheochromocytoma in 2 of the 5; the earliest onset age was 28 years. In the paternal origin, one of the six p.V292M/R67H/R982C carriers presented bilateral MTC (70 years old), one only had bilateral C-cell hyperplasia (44 years), two had bilateral multi-nodules (46 and 48 years) and two showed no abnormality (22 and 19 years). CONCLUSIONS/SIGNIFICANCE: The results confirmed the successful clinical utility of whole exome sequencing, and our data suggested that the p.C634Y/V292M/R67H/R982C mutation of RET exhibited a more aggressive clinical phenotype than p.C634Y or p.V292M/R67H/R982C, while p.V292M/R67H/R982C presented a relatively milder pathogenicity of MTC and likely predisposed to FMTC.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.