Evidence map›Paper›PMID 28546520›Full record

ArticleCancer research and treatment2018

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.

Margherita Baldassarri, Chiara Fallerini, Francesco Cetta, Marco Ghisalberti, Cristiana Bellan, Simone Furini, Ottavia Spiga, Sergio Crispino, Giuseppe Gotti, Francesca Ariani and 3 more

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cancer research and treatment, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

16 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
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  6. Prognostic Value of Dual-Time-Point [Journal of personalized medicine · 2022
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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

13 authors at 4 institutions in 1 country.

Margherita BaldassarriMedical Genetics Unit, University of Siena, Siena, Italy.
Chiara FalleriniMedical Genetics Unit, University of Siena, Siena, Italy.
Francesco CettaIRCCS MultiMedica, Milan, Italy.
Marco GhisalbertiThoracic Surgery Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Cristiana BellanSection of Pathology, Department of Medical Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Simone FuriniDepartment of Medical Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Ottavia SpigaDepartment of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Sergio CrispinoMedical Oncology Unit, Azienda Usl Toscana Sudest, Siena, Italy.
Giuseppe GottiThoracic Surgery Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Francesca ArianiMedical Genetics Unit, University of Siena, Siena, Italy.
Piero PaladiniThoracic Surgery Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Alessandra RenieriMedical Genetics Unit, University of Siena, Siena, Italy.
Elisa FrullantiMedical Genetics Unit, University of Siena, Siena, Italy.
University of Siena · ITAzienda Ospedaliera Universitaria Senese · ITAzienda Usl Toscana Centro · ITMultiMedica · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeLung cancer is strongly associated to tobacco smoking. However, global statistics estimate that in females the proportion of lung cancer cases that is unrelated to tobacco smoking reaches fifty percent, making questionable the etiology of the disease. MATERIALS AND

methodsA never-smoker female with primary EGFR/KRAS/ALK-negative squamous cell carcinoma of the lung and their normal sibswere subjected to a novel integrative "omic" approach using a pedigree-based model for discovering genetic factors leading to cancer in the absence of well-known environmental trigger. A first-stepwhole-exome sequencing on tumor and normal tissue did not identify mutations in known driver genes. Building on the idea of a germline oligogenic origin of lung cancer, we performed whole-exome sequencing of DNA from patients' peripheral blood and their unaffected sibs. Finally, RNA-sequencing analysis in tumoral and matched non-tumoral tissues was carried out in order to investigate the clonal profile and the pathogenic role of the identified variants.

resultsFiltering for rare variants with Combined Annotation Dependent Depletion (CADD) > 25 and potentially damaging effect, we identified rare/private germline deleterious variants in 11 cancer-associated genes, none ofwhich, except one, sharedwith the healthy sib, pinpointing to a "private" oligogenic germline signature. Noteworthy, among these, two mutated genes, namely

conclusionIn the era of precision medicine, this report emphasizes the importance of an "omic" approach to uncover oligogenic germline signature underlying cancer development and to identify suitable therapeutic targets as well.

Indexed as

AgedCarcinoma, Squamous CellFemaleGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansLung NeoplasmsPrecision MedicineDisease susceptibilityExomeHigh-throughput nucleotide sequencingMultifactorial inheritancePrecision medicineSquamous cell carcinoma

Identifiers

PMID28546520
PMCPMC5912139
OpenAlexW2618252859

What OpenQuestion holds

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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.