Evidence map›Paper›PMID 30120715›Full record

ArticleEndocrine pathology2018

Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing.

Ya-Sian Chang, Chun-Chi Chang, Hsi-Yuan Huang, Chien-Yu Lin, Kun-Tu Yeh, Jan-Gowth Chang

Abstract read
PubMed Publisher
In one paragraph

Article in Endocrine pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 40 citations in OpenAlex.

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  9. Not OnlyJournal of the Endocrine Society · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Ya-Sian ChangEpigenome Research Center, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.
Chun-Chi ChangDivision of Chest Medicine, Department of Internal Medicine, Changhua Christian Hospital, Changhua, Taiwan.
Hsi-Yuan HuangEpigenome Research Center, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan.
Chien-Yu LinDepartment of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Kun-Tu YehDepartment of Pathology, Changhua Christian Hospital, Changhua, Taiwan.
Jan-Gowth ChangEpigenome Research Center, China Medical University Hospital, 2 Yuh-Der Road, Taichung, 404, Taiwan. d6781@mail.cmuh.org.tw.
China Medical University · TWChanghua Christian Hospital · TWChina Medical University Hospital · TW

Funding

China Medical University Hospital DMR-107-100Clinical Trial Center, China Medical University Hospital MOHW107-TDU-B-212-123004
6 · The paper itself

Abstract

Genetic and epigenetic alterations are associated with the progression and prognosis of medullary thyroid carcinoma (MTC). We performed whole-exome sequencing of tumor tissue from seven patients with sporadic MTC using an Illumina HiSeq 2000 sequencing system. We conducted Sanger sequencing to confirm the somatic mutations in both tumor and matched normal tissues. We applied Kyoto Encyclopedia of Genes and Genomes functional enrichment analysis with the Database for Annotation, Visualization, and Integrated Discovery and STRING for pathway analysis. We detected new somatic mutations in the BICD2, DLG1, FSD2, IL17RD, KLHL25, PAPPA2, PRDM2, PSEN1, SCRN1, and TTC1 genes. We found a somatic mutation in the PDE4DIP gene that had previously been discovered mutated in other tumors but that had not been characterized in MTC. We investigated pathway deregulation in MTC. Data regarding 1152 MTCs were assembled from the Catalogue of Somatic Mutations in Cancer (COSMIC) and seven of our patients. Ontological analysis revealed that most of the variants aggregated in pathways that included the signaling pathways of thyroid cancer, central carbon metabolism, microRNAs in cancer, PI3K-Akt, ErbB, MAPK, mTOR, VEGF, and RAS. In conclusion, we conducted wide-ranging exome-wide analysis of the mutational spectrum of MTC in Taiwan's population and detected novel genes with potential associations with MTC tumorigenesis and irregularities in pathways that resulted in MTC pathogenesis.

Indexed as

AdultAgedAged, 80 and overAsian PeopleCarcinoma, NeuroendocrineDNA Mutational AnalysisFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationTaiwanThyroid NeoplasmsYoung AdultCOSMICMedullary thyroid cancerMutationsWhole-exome sequencing

Identifiers

PMID30120715
OpenAlexW2886814860

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.