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Record W2159876044 · doi:10.1093/hmg/ddt089

Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

2013· article· en· W2159876044 on OpenAlexafffund
Wei Zheng, Ben Zhang, Qiuyin Cai, Hyuna Sung, Kyriaki Michailidou, Jiajun Shi, Ji‐Yeob Choi, Jirong Long, Joe Dennis, Manjeet K. Humphreys, Wei Lu, Yu‐Tang Gao, Chun Li, Hui Cai, Sue K. Park, Keun-Young Yoo, Dong‐Young Noh, Wonshik Han, Alison M. Dunning, Javier Benı́tez, Daniel Vincent, François Bacot, Daniel C. Tessier, Sung-Won Kim, Min Hyuk Lee, Jong Won Lee, Jong‐Young Lee, Yong‐Bing Xiang, Ying Zheng, Wenjin Wang, Bu‐Tian Ji, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Hideo Tanaka, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Soo‐Hwang Teo, Cheng Har Yip, In Nee Kang, Tien Yin Wong, Chen‐Yang Shen, Jyh‐Cherng Yu, Chiun‐Sheng Huang, Ming‐Feng Hou, Mikael Hartman, Hui Miao, Soo Chin Lee, Thomas Choudary Putti, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Suleeporn Sangrajrang, Hongbing Shen, Kexin Chen, Pei‐Ei Wu, Zefang Ren, Christopher A. Haiman, Aiko Sueta, Mi Kyung Kim, US Khoo, Motoki Iwasaki, Paul D.P. Pharoah, Wanqing Wen, Per Hall, Xiao‐Ou Shu, Douglas F. Easton, Daehee Kang

Bibliographic record

VenueHuman Molecular Genetics · 2013
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsMcGill University and Génome Québec Innovation Centre
FundersNational Cancer InstituteCanadian Institutes of Health ResearchNational Institutes of HealthCancer Research UK
KeywordsBreast cancerSingle-nucleotide polymorphismBiologyGenome-wide association studyGenetic associationCancerOncologyGeneticsEstrogen receptorCase-control studyPopulationInternal medicineGenotypeMedicineGeneEnvironmental health

Abstract

fetched live from OpenAlex

In a consortium including 23 637 breast cancer patients and 25 579 controls of East Asian ancestry, we investigated 70 single-nucleotide polymorphisms (SNPs) in 67 independent breast cancer susceptibility loci recently identified by genome-wide association studies (GWASs) conducted primarily in European-ancestry populations. SNPs in 31 loci showed an association with breast cancer risk at P < 0.05 in a direction consistent with that reported previously. Twenty-one of them remained statistically significant after adjusting for multiple comparisons with the Bonferroni-corrected significance level of <0.0015. Eight of the 70 SNPs showed a significantly different association with breast cancer risk by estrogen receptor (ER) status at P < 0.05. With the exception of rs2046210 at 6q25.1, the seven other SNPs showed a stronger association with ER-positive than ER-negative cancer. This study replicated all five genetic risk variants initially identified in Asians and provided evidence for associations of breast cancer risk in the East Asian population with nearly half of the genetic risk variants initially reported in GWASs conducted in European descendants. Taken together, these common genetic risk variants explain ~10% of excess familial risk of breast cancer in Asian populations.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.345
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
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 head0.009
GPT teacher head0.287
Teacher spread0.278 · 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.

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

Citations95
Published2013
Admission routes2
Has abstractyes

Explore more

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