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Record W4414307001 · doi:10.1101/2025.09.09.25335109

Panorama of Chromosomal Instability in Lung Cancer

2025· preprint· en· W4414307001 on OpenAlexaff
Yang Yang, Xiaoming Zhong, William D. Phillips, Zhao Wei, Phuc H. Hoang, Christopher L. Wirth, Soo‐Ryum Yang, Charles Leduc, Marina K. Baine, William D. Travis, Lynette M. Sholl, Philippe Joubert, Robert Homer, Jian Sang, Azhar Khandekar, John McElderry, Thi‐Van‐Trinh Tran, Caleb Hartman, Mona Miraftab, Monjoy Saha, Olivia W. Lee, Sunandini Sharma, Kristine Jones, Bin Zhu, Marcos Díaz‐Gay, Eric S. Edell, Matthew B. Schabath, Sai Yendamuri, Marta Mańczuk, Jolanta Lissowska, Beata Świątkowska, Anush Mukeria, Oxana Shangina, David Zaridze, Ivana Holcátová, Vladimí­r Janout, Dana Mateș, Simona Ognjanovic, Milan Savić, Milica Kontić, Yohan Bossé, Bonnie E. Gould Rothberg, David C. Christiani, Valérie Gaborieau, Paul Brennan, Geoffrey Liu, Paul Hofman, Maria P. Wong, Kin Chung Leung, Chih-Yi Chen, Chao A. Hsiung, Angela Cecilia Pesatori, Dario Consonni, Nathaniel Rothman, Qing Lan, Martin A. Nowak, David C. Wedge, Ludmil B. Alexandrov, Stephen J Chanock, Jianxin Shi, Tongwu Zhang, Lixing Yang, Maria Teresa Landi

Bibliographic record

VenuemedRxiv · 2025
Typepreprint
Languageen
FieldMedicine
TopicLung Cancer Treatments and Mutations
Canadian institutionsPrincess Margaret Cancer CentreUniversité LavalInstitut universitaire de cardiologie et de pneumologie de QuébecCentre Hospitalier de l’Université de Montréal
Fundersnot available
KeywordsChromosome instabilityGenome instabilityLung cancerCarcinogenesisMutationSomatic cellDiseaseGenome

Abstract

fetched live from OpenAlex

Abstract Lung cancer is a highly heterogeneous disease primarily driven by tobacco smoking. About 20% of lung cancers occur among patients who have never smoked (LCINS) with differences in patient ancestry, sex, tumor histology, and clinical features. Our understanding of chromosomal instability in lung cancer, especially LCINS, is still limited. Here, we perform a comprehensive study of 182,429 somatic structural variations (SVs) detected in 1,209 whole-genome sequenced lung cancers, of which 864 LCINS. SVs are more abundant in tumors from patients who have smoked (LCSS); however, they are more complex and play more important roles in tumorigenesis in LCINS. EGFR mutations and KRAS mutations profoundly and independently shape the SV landscape. EGFR -mutant tumors have higher SV burden and more cancer-driving SVs. In contrast, KRAS mutations are associated with lower SV burden and less driver SVs. We decompose 16 SV signatures for both complex and simple SVs that likely represent divergent molecular mechanisms. The SV breakpoints have distinct distributions across the genome depending on the signatures due to mutagenic mechanisms and positive selection. Many established cancer-driving genes are recurrently rearranged by multiple SV signatures suggesting functional convergence of these genome instability mechanisms.

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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.000
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 head0.018
GPT teacher head0.361
Teacher spread0.343 · 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 designObservational
Domainnot available
GenreEmpirical

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 routes1
Has abstractyes

Explore more

Same venuemedRxiv→Same topicLung Cancer Treatments and Mutations→French-language works237,207→