Evidence map›Paper›PMID 30957200›Full record

ArticleJournal of gastrointestinal cancer2020

Whole Exome Sequencing Reveals a Novel Damaging Mutation in Human Fibroblast Activation Protein in a Family with Esophageal Squamous Cell Carcinoma.

Fatemeh Fardi Golyan, Morteza Moghaddassian, Mohammad Mahdi Forghanifard, Samaneh Talebi, Moein Farshchian, Reihaneh Alsadat Mahmoudian, Mohammad Reza Abbaszadegan

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Article in Journal of gastrointestinal cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 43% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
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

7 authors at 3 institutions in 1 country.

Fatemeh Fardi GolyanImmunology research center, Mashhad university of Medical Sciences, Mashhad, Iran.
Morteza MoghaddassianDivision of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad university of Medical Sciences, Mashhad, Iran.
Mohammad Mahdi ForghanifardDepartment of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.
Samaneh TalebiImmunology research center, Mashhad university of Medical Sciences, Mashhad, Iran.
Moein FarshchianMolecular Medicine Research Department, ACECR, Khorasan Razavi Branch, Mashhad, Iran.
Reihaneh Alsadat MahmoudianImmunology research center, Mashhad university of Medical Sciences, Mashhad, Iran.
Mohammad Reza AbbaszadeganImmunology research center, Mashhad university of Medical Sciences, Mashhad, Iran. Abbaszadeganmr@mums.ac.ir.ORCID http://orcid.org/0000-0002-6289-1190
Mashhad University of Medical Sciences · IRAcademic Center for Education, Culture and Research · IRIslamic Azad University, Damghan Branch · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeEsophageal squamous cancer cell (ESCC), with late diagnosis and poor rate of survival, is a significant cause of mortality in the developing countries. The hypothesis of rare high penetrance with mutations in new genes may explain the underlying predisposition in some of these familial cases.

methodsExome sequencing was performed in the patients with ESCC with strong disease aggregation, two sisters with ESCC cancer, and one with breast cancer. Data analysis selected only very rare variants (0-0.1%) located in genes with a role compatible with cancer. In addition, the homology modeling of the novel mutation (A459D) discovered in FAP gene was performed by using the online Swiss-Prot server for automated modeling and the resulted structure has been modified and analyzed by using bioinformatics software to thoroughly study the structural deficiencies caused by the novel mutation.

resultsTen final candidate variants were selected and six genes validated by Sanger sequencing. Correct family segregation and somatic studies were used to categorize the most interesting variants in FAP, BOD1L, RAD51, Gasdermin D, LGR5, and CERS4. A novel, human mutation C1367A encoding Ala459 Asp (accession number: KT988039), occurring in the blade of the β propeller domain, was identified in two sisters with ESCC.

conclusionsWe identified novel mutations in three drug delivery genes, a tumor suppressor and also a stem cell marker of esophageal that may have a role in cancer treatment and are involved in cellular pathways, which supports their putative involvement in germ-line predisposition to this neoplasm.

Indexed as

Amino Acid SequenceEndopeptidasesEsophageal Squamous Cell CarcinomaExome SequencingFemaleFibroblast Activation Protein AlphaGelatinasesGenetic Predisposition to DiseaseHumansMaleMembrane ProteinsMutationSerine EndopeptidasesSurvival AnalysisEndopeptidasesFibroblast Activation Protein AlphaGelatinasesMembrane ProteinsSerine EndopeptidasesESCCFAPGenetic variantHomology modelingNext-generation sequencingStructural analysis disease

Identifiers

PMID30957200
OpenAlexW2940048966

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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.