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Record W3046594723 · doi:10.1038/s41467-020-17680-w

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

2020· article· en· W3046594723 on OpenAlexafffund
Weang-Kee Ho, Min Tan, Nasim Mavaddat, Mei-Chee Tai, Shivaani Mariapun, Jingmei Li, Peh Joo Ho, Joe Dennis, Jonathan P. Tyrer, Manjeet K. Bolla, Kyriaki Michailidou, Qin Wang, Daehee Kang, Ji‐Yeob Choi, Suniza Jamaris, Xiao‐Ou Shu, Sook-Yee Yoon, Sue K. Park, Sung‐Won Kim, Chen‐Yang Shen, Jyh-Cherng Yu, Ern Yu Tan, Patrick Chan, Kenneth Muir, Artitaya Lophatananon, Anna H. Wu, Daniel O. Stram, Keitaro Matsuo, Hidemi Ito, Ching Wan Chan, Joanne Ngeow, Wei Sean Yong, Swee Ho Lim, Geok Hoon Lim, Ava Kwong, Tsun Leung Chan, Su Ming Tan, Jaime Chin Mui Seah, Esther M. John, Allison W. Kurian, Woon‐Puay Koh, Chiea Chuen Khor, Motoki Iwasaki, Taiki Yamaji, Kiak Mien Veronique Tan, John J. Spinelli, Kristan J. Aronson, Siti Norhidayu Hasan, Kartini Rahmat, Anushya Vijayananthan, Xueling Sim, Paul D.P. Pharoah, Wei Zheng, Alison M. Dunning, Jacques Simard, Rob M. van Dam, Cheng Har Yip, Nur Aishah Mohd Taib, Mikael Hartman, Douglas F. Easton, Soo‐Hwang Teo, Antonis C. Antoniou

Bibliographic record

VenueNature Communications · 2020
Typearticle
Languageen
FieldMedicine
TopicGlobal Cancer Incidence and Screening
Canadian institutionsUniversité LavalQueen's UniversityUniversity of British Columbia
FundersMedical Research CouncilCanadian Institutes of Health ResearchUniversiti MalayaNational Cancer InstituteBiomedical Research CouncilNational Medical Research CouncilNational Research FoundationEuropean CommissionWellcome TrustYayasan Sime DarbyNational Research Foundation SingaporeFondation du cancer du sein du QuébecNational Institutes of HealthCancer Research UKGovernment of CanadaGenome Canada
KeywordsBreast cancerMedicinePolygenic risk scoreMalayProspective cohort studyCohortOncologyDemographyRisk assessmentCancerCohort studyInternal medicineGynecologyBiologyGeneGeneticsGenotypeSingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

Polygenic risk scores (PRS) have been shown to predict breast cancer risk in European women, but their utility in Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry women using data from 17,262 breast cancer cases and 17,695 controls of Asian ancestry from 13 case-control studies, and 10,255 Chinese women from a prospective cohort (413 incident breast cancers). Compared to women in the middle quintile of the risk distribution, women in the highest 1% of PRS distribution have a ~2.7-fold risk and women in the lowest 1% of PRS distribution has ~0.4-fold risk of developing breast cancer. There is no evidence of heterogeneity in PRS performance in Chinese, Malay and Indian women. A PRS developed for European-ancestry women is also predictive of breast cancer risk in Asian women and can help in developing risk-stratified screening programmes in Asia.

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)0.006
metaresearch head score (Gemma)0.010
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 score0.006
Threshold uncertainty score0.031

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0060.010
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.069
GPT teacher head0.328
Teacher spread0.259 · 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

Citations146
Published2020
Admission routes2
Has abstractyes

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Same venueNature CommunicationsSame topicGlobal Cancer Incidence and ScreeningFrench-language works237,207