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Record W4327957106 · doi:10.1016/j.eclinm.2023.101909

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

2023· article· en· W4327957106 on OpenAlexaff
Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä, Julian R. Sampson, Lone Sunde, Inge Bernstein, Mark A. Jenkins, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capellá, Francesc Balaguer, D. Gareth Evans, John Burn, Elke Holinski‐Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John‐Paul Plazzer, Rolf H. Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Tadeusz Dębniak, Robert Fruscio, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Lior H. Katz, Ido Laish, E Vainer, Carlos Vaccaro, Dirce Maria Carraro, Kevin Monahan, Elizabeth Half, Áine Stakelum, D. C. Winter, Rory Kennelly, Nathan Gluck, Harsh Sheth, Naim Abu‐Freha, Marc S. Greenblatt, Bernard Rossi, Mábel Bohórquez, Giulia Martina Cavestro, Leonardo S. Lino‐Silva, Karoline Horisberger, Maria Grazia Tibiletti, Ivana do Nascimento, Huw Thomas, Norma Rossi, Leandro Apolinário da Silva, Attila Zaránd, Juan Ruiz‐Bañobre, Vincent Heuveline, Jukka‐Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Païvi Peltomäki, Christina Therkildsen, Mia Gebauer Madsen, Stefan Kobbelgaard Burgdorf, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane M. Lindor, Steven Gallinger, Loı̈c Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Evelin Schröck, Verena Steinke‐Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Silke Redler, Reinhard Büttner, Jürgen Weitz, Marta Pineda, Núria Dueñas, Leticia Moreira, Ariadna Sánchez, Eivind Hovig, Sigve Nakken, Kate Green, Fiona Lalloo, James Hill, Emma J. Crosbie, Miriam Mints, Yael Goldberg, Douglas Tjandra, Sanne W. ten Broeke, Revital Kariv, Guy Rosner, Suresh H. Advani, Lidiya Thomas, Pankaj Shah, Mithun Vinod Shah, Florencia Neffa, Patricia Esperón, Walter Pavicic, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Möslein, Pål Møller

Bibliographic record

VenueEClinicalMedicine · 2023
Typearticle
Languageen
FieldMedicine
TopicGenetic factors in colorectal cancer
Canadian institutionsLunenfeld-Tanenbaum Research Institute
FundersNational Cancer InstituteEuropean Regional Development FundRelander FoundationCentro de Investigación Biomédica en Red de CáncerInstituto de Salud Carlos IIISyöpäsäätiöMaag Lever Darm StichtingSigrid Juséliuksen SäätiöUniversità degli Studi di ParmaFundação de Amparo à Pesquisa do Estado de São PauloEmil Aaltosen SäätiöCancer Research UKKWF KankerbestrijdingCancer AustraliaAcademy of FinlandConselho Nacional de Desenvolvimento Científico e TecnológicoKreftforeningenCentres de Recerca de CatalunyaJane ja Aatos Erkon SäätiöRoyal Melbourne HospitalMinisterio de Ciencia e InnovaciónGeneralitat de CatalunyaNational Institute for Health and Care ResearchNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchNational Institutes of HealthParc Geneteg CymruHealth and Care Research WalesDeutsche KrebshilfeMinisterio de Economía y CompetitividadVictorian Cancer Agency
KeywordsMedicineLynch syndromeCancerGeneLifetime riskOncologyDatabaseDNA mismatch repairInternal medicineGenetics

Abstract

fetched live from OpenAlex

Background: ) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We acknowledge funding from the Norwegian Cancer Society, contract 194751-2017.

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)0.001
metaresearch head score (Gemma)0.002
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 score0.015
Threshold uncertainty score0.029

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.083
GPT teacher head0.371
Teacher spread0.288 · 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

Citations110
Published2023
Admission routes1
Has abstractyes

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