Evidence map›Paper›PMID 28576136›Full record

ArticleBMC medical genetics2017

Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer.

Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik, Nachimuthu Senthil Kumar

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

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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

14 citing papers in PubMed, 25 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

6 authors at 2 institutions in 1 country.

Souvik GhatakDepartment of Biotechnology, Mizoram University, Aizawl, 796004, Mizoram, India.
Payel ChakrabortyDepartment of Biotechnology, Mizoram University, Aizawl, 796004, Mizoram, India.
Sandeep Roy SarkarDepartment of Pathology, Agartala Government Medical College, Tripura, India.
Biswajit ChowdhuryDepartment of Pathology, Agartala Government Medical College, Tripura, India.
Arup BhaumikDepartment of Pathology, Agartala Government Medical College, Tripura, India.
Nachimuthu Senthil KumarDepartment of Biotechnology, Mizoram University, Aizawl, 796004, Mizoram, India. nskmzu@gmail.com.
Agartala Government Medical College · INMizoram University · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer.

methodsWe investigated for somatic mutations in the Exons 14 and 15 of APC gene from 40 diffuse type gastric cancersamples. Rabbit polyclonal anti-APC antibody was used, which detects the wild-type APC protein and was recommended for detection of the respective protein in human tissues. Cell cycle analysis was done from tumor and adjacent normal tissue.

resultsAPC immunoreactivity showed positive expression of the protein in stages I, II, III and negative expression in Stages III and IV. Two novel deleterious variations (g.127576C > A, g.127583C > T) in exon 14 sequence were found to generate stop codon (Y622* and Q625*)in the tumor samples. Due to the generation of stop codon, the APC protein might be truncated and all the regulatory features could be lost which has led to the down-regulation of protein expression. Our results indicate that aneuploidy might occurdue to the codon 622 and 625 APC-driven gastric tumorigenesis, in agreement with our cell cycle analysis. The APC gene function in mitosis and chromosomal stability might be lost and G1 might be arrested with high quantity of DNA in the S phase. Six missense somatic mutations in tumor samples were detected in exon 15 A-B, twoof which showed pathological and disease causing effects based on SIFT, Polyphen2 and SNPs & GO score and were not previously reported in the literature or the public mutation databases.

conclusionThe two novel pathological somatic mutations (g.127576C > A, g.127583C > T) in exon 14 might be altering the protein expression leading to development of gastric cancer in the study population. Our study showed that mutations in the APC gene alter the protein expression and cell cycle regulation in diffuse type gastric adenocarcinoma.

Indexed as

Gene Expression Regulation, NeoplasticAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinAdolescentAdultAgedBody Mass IndexCase-Control StudiesDown-RegulationExonsFemaleHumansImmunohistochemistryMaleMiddle AgedMutationAdenomatous Polyposis Coli ProteinAPC protein, humanAdenomatous polyposis coli (APC)Cell cycleGastric adenocarcinomasImmunoreactivityMutation

Identifiers

PMID28576136
PMCPMC5457612
OpenAlexW2621312457

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.