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Record W4409912100 · doi:10.1016/j.xhgg.2025.100445

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis

2025· review· en· W4409912100 on OpenAlexafffund
Sami Ul Haq, Ahmad Bin Aamir, Chloe Mighton, Katrina Hueniken, Vivek M. Philip, Raymond H. Kim, Geoffrey Liu, Peter Sabatini, Scott V. Bratman, Benjamin H. Lok

Bibliographic record

VenueHuman Genetics and Genomics Advances · 2025
Typereview
Languageen
FieldMedicine
TopicLung Cancer Research Studies
Canadian institutionsToronto General HospitalPrincess Margaret Cancer CentreCanada Research ChairsOntario Institute for Cancer ResearchSt. Michael's HospitalWestern University
FundersNational Cancer InstituteNational Institutes of HealthTerry Fox Research InstituteMemorial Sloan-Kettering Cancer CenterUniversity of TorontoCanada Foundation for InnovationPrincess Margaret Cancer FoundationCanadian Institutes of Health ResearchCancer Research Society
KeywordsMeta-analysisGermlineLung cancerBiologyCancerGeneticsMedicineOncologyInternal medicineGene

Abstract

fetched live from OpenAlex

This systematic review and meta-analysis examined the prevalence and clinical impact of germline variants in small cell lung cancer (SCLC). Primary objectives included estimating the prevalence of germline variants in SCLC patients, while secondary objectives focused on their effects on patient outcomes. A comprehensive search was conducted in Ovid MEDLINE, EMBASE, and gray-literature databases (as of July 2024). Studies reporting germline variants in SCLC patients were included. Data were extracted to calculate pooled prevalence and hazard ratios (HRs). Study quality was assessed using the Translating ROBBINs tool, and heterogeneity was evaluated using the I 2 statistic. Of 6,117 screened studies, 124 met inclusion criteria, with 8% (10/124) reporting pathogenic/likely pathogenic (P/LP) findings. Meta-analysis using a random-effects model estimated the prevalence of P/LP germline variants in SCLC patients at 11% (95% CI: 5%–25%). Gene-level prevalence was estimated for ATM (pooled prevalence=1%; 95% CI: 0%–5%), BRCA1 (1%; 95% CI: 1%–3%), BRCA2 (1%; 95% CI: 1%–3%), and TP53 (1%; 95% CI: 0%–3%). Patients with P/LP variants in DNA damage repair genes showed a non-significant prognostic survival benefit (pooled HR: 0.8; 95% CI: 0.51–1.29, I 2 = 8%). We have conducted a comprehensive systematic review of germline variants and their impact on clinical outcomes of SCLC patients. Our meta-analysis identified an estimated prevalence of P/LP variants in SCLC patients, suggesting a rationale for screening in the clinic.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.012
metaresearch head score (Gemma)0.028
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: Meta-analysis
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.017
Threshold uncertainty score0.064

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0120.028
Meta-epidemiology (narrow)0.0030.002
Meta-epidemiology (broad)0.0170.039
Bibliometrics0.0070.009
Science and technology studies0.0010.001
Scholarly communication0.0030.002
Open science0.0020.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.071
GPT teacher head0.412
Teacher spread0.341 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designMeta-analysis
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2025
Admission routes2
Has abstractyes

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