Systems epigenetic approach towards non-invasive breast cancer detection

被引：4

作者：

Herzog, Chiara M. S. ^{[1
,2
]}

Theeuwes, Bente ^{[1
,2
]}

Jones, Allison ^{[3
]}

Evans, Iona ^{[3
]}

Bjorge, Line ^{[4
,5
]}

Zikan, Michal ^{[6
,7
]}

Cibula, David ^{[8
]}

Harbeck, Nadia ^{[9
,10
]}

Colombo, Nicoletta ^{[11
,12
]}

Pashayan, Nora ^{[13
]}

Widschwendter, Martin ^{[1
,2
,3
,14
,15
]}

机构：

[1] Univ Innsbruck, European Translat Oncol Prevent & Screening Inst, Innsbruck, Austria

[2] Univ Innsbruck, Inst Biomed Aging Res, Innsbruck, Austria

[3] UCL, UCL EGA Inst Womens Hlth, Dept Womens Canc, London, England

[4] Univ Bergen, Ctr Canc Biomarkers CCBIO, Dept Clin Sci, Bergen, Norway

[5] Haukeland Hosp, Dept Obstet & Gynecol, Bergen, Norway

[6] Charles Univ Prague, Fac Med 1, Dept Gynecol & Obstet, Prague, Czech Republic

[7] Hosp Bulovce, Prague, Czech Republic

[8] Charles Univ Prague, Gen Univ Hosp Prague, Dept Gynaecol Obstet & Neonatol, Fac Med 1, Prague, Czech Republic

[9] LMU Univ Hosp, Dept Obstet & Gynecol, Breast Ctr, Munich, Germany

[10] LMU Univ Hosp, CCC Munich, Munich, Germany

[11] European Inst Oncol IRCCS, Gynecol Oncol Program, Milan, Italy

[12] Univ Milano Bicocca, Dept Med & Surg, Milan, Italy

[13] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[14] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden

[15] Karolinska Univ Hosp, Stockholm, Sweden

来源：

NATURE COMMUNICATIONS | 2025年 / 16卷 / 01期

基金：

欧盟地平线“2020”;

关键词：

RISK;

D O I：

10.1038/s41467-024-53696-2

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

No study has systematically compared the suitability of DNA methylation (DNAme) profiles in non-invasive samples for the detection of breast cancer (BC). We assess non-tumour DNAme in 1,100 cervical, buccal, and blood samples from BC cases and controls and find that cervical samples exhibit the largest nuber of differentially methylated sites, followed by buccal samples. No sites were significant in blood after FDR adjustment. Deriving DNAme-based classifiers for BC detection in each sample type (WID-buccal-, cervical-, or blood-BC), we achieve validation AUCs of 0.75, 0.66, and 0.51, respectively. Buccal and cervical BC-associated DNAme alterations distinguish between BC cases and controls in both surrogate and breast tissue (AUC > 0.88), yet individual sites and the directionality of methylation changes are not identical between these two sample types, and buccal sample DNAme aligns with breast methylation changes more closely. Pending additional validation, these insights may have the potential to improve non-invasive personalized BC prevention.

引用

页数：14

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