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Record W3083798800 · doi:10.1038/s41523-020-00185-6

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

2020· article· en· W3083798800 on OpenAlexafffund
Taru Muranen, Sofia Khan, Rainer Fagerholm, Kristiina Aittomäki, Julie M. Cunningham, Joe Dennis, Goska Leslie, Lesley McGuffog, Michael T. Parsons, Jacques Simard, Susan Slager, Penny Soucy, Douglas F. Easton, Marc Tischkowitz, Amanda B. Spurdle, Rita K. Schmutzler, Barbara Wappenschmidt, Eric Hahnen, Maartje J. Hooning, Christian F. Singer, Gabriel Wagner, Mads Thomassen, Inge Søkilde Pedersen, Susan M. Domchek, Katherine L. Nathanson, Conxi Lázaro, Caroline Maria Rossing, Irene L. Andrulis, Manuel R. Teixeira, Paul A. James, Judy E. Garber, Jeffrey N. Weitzel, Anna Jakubowska, Drakoulis Yannoukakos, Esther M. John, Melissa C. Southey, Marjanka K. Schmidt, Antonis C. Antoniou, Georgia Chenevix‐Trench, Carl Blomqvist, Heli Nevanlinna

Bibliographic record

Venuenpj Breast Cancer · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsAmgen (Canada)University of TorontoLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalMcGill UniversityCentre hospitalier universitaire de Québec
FundersNational Cancer InstituteNational Heart, Lung, and Blood InstituteMedical Research CouncilCanadian Institutes of Health ResearchAssociazione Italiana per la Ricerca sul CancroOdense UniversitetshospitalFondation du cancer du sein du QuébecGénome QuébecGenome CanadaNational Institutes of HealthNational Health and Medical Research CouncilCancer Research UKGovernment of CanadaDeutsche KrebshilfeBreast Cancer Research Foundation
KeywordsGermlineBreast cancerGermline mutationOncologyGeneticsVariation (astronomy)BiologyMedicineInternal medicineCancerMutationGene

Abstract

fetched live from OpenAlex

Abstract Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline pathogenic variants inBRCA1orBRCA2genes. We found that rs57025206 was significantly associated with the overall survival, predicting higher mortality ofBRCA1carrier patients with estrogen receptor-negative breast cancer, with a hazard ratio 4.37 (95% confidence interval 3.03–6.30,P = 3.1 × 10−9). Multivariable analysis adjusted for tumor characteristics suggested that rs57025206 was an independent survival marker. In addition, our exploratory analyses suggest that the associations between genetic variants and breast cancer patient survival may depend on tumor biological subgroup and clinical patient characteristics.

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)0.002
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 score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
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)0.0020.000

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 head0.006
GPT teacher head0.227
Teacher spread0.221 · 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

Citations10
Published2020
Admission routes2
Has abstractyes

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