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2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.

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Li, Jingmei 
Lindström, Linda S 
Foo, Jia N 
Rafiq, Sajjad 
Schmidt, Marjanka K 


Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204_A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10(-9)). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities.



Breast Neoplasms, Chromosomes, Human, Pair 2, Drug Therapy, Female, Genetic Markers, Humans, Kaplan-Meier Estimate, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Prognosis, Proportional Hazards Models, White People

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Nat Commun

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Springer Science and Business Media LLC
National Cancer Institute (U19CA148537)
National Cancer Institute (R01CA128978)
National Cancer Institute (U19CA148065)
European Commission (223175)
Cancer Research UK (10710)
Cancer Research UK (12014)
Cancer Research UK (10118)
Breast Cancer Now (2010NovPR62)