Evidence map›Paper›PMID 28256603›Full record

ArticleScientific reports2017

Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Yock Ping Chow, Lu Ping Tan, San Jiun Chai, Norazlin Abdul Aziz, Siew Woh Choo, Paul Vey Hong Lim, Rajadurai Pathmanathan, Noor Kaslina Mohd Kornain, Chee Lun Lum, Kin Choo Pua and 5 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

20 citing papers in PubMed, 35 citations in OpenAlex.

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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

15 authors at 9 institutions in 1 country.

Yock Ping ChowCancer Research Malaysia, 47500 Subang Jaya, Selangor, Malaysia.
Lu Ping TanMolecular Pathology Unit, Cancer Research Centre, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia.
San Jiun ChaiCancer Research Malaysia, 47500 Subang Jaya, Selangor, Malaysia.
Norazlin Abdul AzizMolecular Pathology Unit, Cancer Research Centre, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia.
Siew Woh ChooDepartment of Oral and Craniofacial Sciences, Faculty of Dentistry, University of Malaya, 50603 Kuala Lumpur, Malaysia.
Paul Vey Hong LimTung Shin Hospital, 55100 Kuala Lumpur, Malaysia.
Rajadurai PathmanathanSime Darby Medical Centre, 47500 Selangor, Malaysia.
Noor Kaslina Mohd KornainDepartment of Pathology, Faculty of Medicine, University Teknologi MARA (UiTM), 47000 Sungai Buloh, Selangor, Malaysia.
Chee Lun LumDepartment of Otorhinolaryngology, Queen Elizabeth Hospital, 88200 Kota Kinabalu, Sabah, Malaysia.
Kin Choo PuaDepartment of Otorhinolaryngology, Hospital Pulau Pinang, 10990 Penang, Malaysia.
Yoke Yeow YapDepartment of Surgery, Clinical Campus Faculty of Medicine and Health Sciences, University Putra Malaysia, Hospital Kuala Lumpur, 50586 Kuala Lumpur, Malaysia.
Tee Yong TanDepartment of Otorhinolaryngology, Head and Neck Surgery, Sarawak General Hospital, 53586 Kuching, Sarawak, Malaysia.
Soo Hwang TeoCancer Research Malaysia, 47500 Subang Jaya, Selangor, Malaysia.
Alan Soo-Beng KhooMolecular Pathology Unit, Cancer Research Centre, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia.
Vyomesh PatelCancer Research Malaysia, 47500 Subang Jaya, Selangor, Malaysia.
Cancer Research Malaysia · MYInstitute for Medical Research · MYHospital Kuala Lumpur · MYHospital Pulau Pinang · MYHospital Sungai Buloh · MYQueen Elizabeth Hospital · MYSarawak General Hospital · MYSubang Jaya Medical Centre · MYUniversity of Malaya · MY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this study, we first performed whole exome sequencing of DNA from 10 untreated and clinically annotated fresh frozen nasopharyngeal carcinoma (NPC) biopsies and matched bloods to identify somatically mutated genes that may be amenable to targeted therapeutic strategies. We identified a total of 323 mutations which were either non-synonymous (n = 238) or synonymous (n = 85). Furthermore, our analysis revealed genes in key cancer pathways (DNA repair, cell cycle regulation, apoptosis, immune response, lipid signaling) were mutated, of which those in the lipid-signaling pathway were the most enriched. We next extended our analysis on a prioritized sub-set of 37 mutated genes plus top 5 mutated cancer genes listed in COSMIC using a custom designed HaloPlex target enrichment panel with an additional 88 NPC samples. Our analysis identified 160 additional non-synonymous mutations in 37/42 genes in 66/88 samples. Of these, 99/160 mutations within potentially druggable pathways were further selected for validation. Sanger sequencing revealed that 77/99 variants were true positives, giving an accuracy of 78%. Taken together, our study indicated that ~72% (n = 71/98) of NPC samples harbored mutations in one of the four cancer pathways (EGFR-PI3K-Akt-mTOR, NOTCH, NF-κB, DNA repair) which may be potentially useful as predictive biomarkers of response to matched targeted therapies.

Indexed as

AdultBiomarkers, TumorCarcinomaDNA RepairExomeExome SequencingFemaleHumansMaleMiddle AgedMutationNasopharyngeal CarcinomaNasopharyngeal NeoplasmsSequence Analysis, DNASignal TransductionBiomarkers, Tumor

Identifiers

PMID28256603
PMCPMC5335658
OpenAlexW2592286826

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.