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Record W4396544326 · doi:10.1038/s41586-024-07368-2

Geographic variation of mutagenic exposures in kidney cancer genomes

2024· article· en· W4396544326 on OpenAlexaff
S. Senkin, Sarah Moody, Marcos Díaz‐Gay, Behnoush Abedi‐Ardekani, Thomas Cattiaux, Aida Ferreiro-Iglesias, Jingwei Wang, Stephen Fitzgerald, Mariya Kazachkova, Raviteja Vangara, Anh Le, Erik N. Bergstrom, Azhar Khandekar, Burçak Otlu, Saamin Cheema, Calli Latimer, Emily Thomas, Joshua Atkins, Karl Smith-Byrne, Ricardo Cortez Cardoso Penha, Christine Carreira, Priscilia Chopard, Valérie Gaborieau, Pekka Keski‐Rahkonen, David Jones, Jon W. Teague, Sophie Ferlicot, Mojgan Asgari, Surasak Sangkhathat, Worapat Attawettayanon, Beata Świątkowska, Sonata Jarmalaitė, Rasa Sabaliauskaitė, Tatsuhiro Shibata, Akihiko Fukagawa, Dana Mateș, Viorel Jinga, Ștefan Rașcu, Mirjana Mijušković, Slaviša Savić, Saša Milosavljević, John M.S. Bartlett, Monique Albert, Larry Phouthavongsy, Patrícia Ashton‐Prolla, Mariana Rodrigues Botton, Brasil Silva Neto, Stephania Martins Bezerra, María Paula Curado, Stênio de Cássio Zéqui, Rui Manuel Reis, Eliney Ferreira Faria, Nei Soares de Menezes, Renata Spagnoli Ferrari, Rosamonde E. Banks, Naveen Vasudev, Давид Заридзе, Anush Mukeriya, Oxana Shangina, В. Б. Матвеев, Lenka Foretová, Marie Navrátilová, Ivana Holcátová, Anna Horňáková, Vladimí­r Janout, Mark P. Purdue, Nathaniel Rothman, Stephen J. Chanock, Per Magne Ueland, Mattias Johansson, James McKay, Ghislaine Scélo, Estelle Chanudet, Laura Humphreys, Ana Carolina de Carvalho, Sandra Pérdomo, Ludmil B. Alexandrov, Michael R. Stratton, Paul Brennan

Bibliographic record

VenueNature · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsUniversity of GuelphOntario Institute for Cancer Research
FundersNational Cancer InstituteCancer Research UKMinisterstvo Zdravotnictví Ceské RepublikyNational Institute for Health and Care ResearchJapan Agency for Medical Research and DevelopmentHospital de Câncer de BarretosNational Cancer Center JapanWellcome TrustHORIZON EUROPE Framework ProgrammeHospital de Clínicas de Porto AlegreUniverzita Karlova v PrazeWorld Health Organization
KeywordsKidney cancerVariation (astronomy)GenomeBiologyGeographic variationCancerEvolutionary biologyGeneticsMedicineEnvironmental healthGenePopulation

Abstract

fetched live from OpenAlex

Abstract International differences in the incidence of many cancer types indicate the existence of carcinogen exposures that have not yet been identified by conventional epidemiology make a substantial contribution to cancer burden 1 . In clear cell renal cell carcinoma, obesity, hypertension and tobacco smoking are risk factors, but they do not explain the geographical variation in its incidence 2 . Underlying causes can be inferred by sequencing the genomes of cancers from populations with different incidence rates and detecting differences in patterns of somatic mutations. Here we sequenced 962 clear cell renal cell carcinomas from 11 countries with varying incidence. The somatic mutation profiles differed between countries. In Romania, Serbia and Thailand, mutational signatures characteristic of aristolochic acid compounds were present in most cases, but these were rare elsewhere. In Japan, a mutational signature of unknown cause was found in more than 70% of cases but in less than 2% elsewhere. A further mutational signature of unknown cause was ubiquitous but exhibited higher mutation loads in countries with higher incidence rates of kidney cancer. Known signatures of tobacco smoking correlated with tobacco consumption, but no signature was associated with obesity or hypertension, suggesting that non-mutagenic mechanisms of action underlie these risk factors. The results of this study indicate the existence of multiple, geographically variable, mutagenic exposures that potentially affect tens of millions of people and illustrate the opportunities for new insights into cancer causation through large-scale global cancer genomics.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.736
Threshold uncertainty score0.370

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.004
GPT teacher head0.249
Teacher spread0.246 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations76
Published2024
Admission routes1
Has abstractyes

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