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000276787 1001_ $$aChung, Felicia Fei-Lei$$b0
000276787 245__ $$aBuffy coat signatures of breast cancer risk in a prospective cohort study.
000276787 260__ $$a[Erscheinungsort nicht ermittelbar]$$bBioMed Central$$c2023
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000276787 520__ $$aEpigenetic alterations are a near-universal feature of human malignancy and have been detected in malignant cells as well as in easily accessible specimens such as blood and urine. These findings offer promising applications in cancer detection, subtyping, and treatment monitoring. However, much of the current evidence is based on findings in retrospective studies and may reflect epigenetic patterns that have already been influenced by the onset of the disease.Studying breast cancer, we established genome-scale DNA methylation profiles of prospectively collected buffy coat samples (n = 702) from a case-control study nested within the EPIC-Heidelberg cohort using reduced representation bisulphite sequencing (RRBS).We observed cancer-specific DNA methylation events in buffy coat samples. Increased DNA methylation in genomic regions associated with SURF6 and REXO1/CTB31O20.3 was linked to the length of time to diagnosis in the prospectively collected buffy coat DNA from individuals who subsequently developed breast cancer. Using machine learning methods, we piloted a DNA methylation-based classifier that predicted case-control status in a held-out validation set with 76.5% accuracy, in some cases up to 15 years before clinical diagnosis of the disease.Taken together, our findings suggest a model of gradual accumulation of cancer-associated DNA methylation patterns in peripheral blood, which may be detected long before clinical manifestation of cancer. Such changes may provide useful markers for risk stratification and, ultimately, personalized cancer prevention.
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000276787 650_7 $$2Other$$aBreast cancer
000276787 650_7 $$2Other$$aCancer risk markers
000276787 650_7 $$2Other$$aDNA methylation
000276787 650_7 $$2Other$$aEpigenetics
000276787 650_7 $$2Other$$aProspective cohort
000276787 7001_ $$0P:(DE-HGF)0$$aMaldonado, Sandra González$$b1$$eFirst author
000276787 7001_ $$aNemc, Amelie$$b2
000276787 7001_ $$aBouaoun, Liacine$$b3
000276787 7001_ $$aCahais, Vincent$$b4
000276787 7001_ $$aCuenin, Cyrille$$b5
000276787 7001_ $$aSalle, Aurelie$$b6
000276787 7001_ $$0P:(DE-He78)79ab945544e5bc017a2317b6146ed3aa$$aJohnson, Theron$$b7$$udkfz
000276787 7001_ $$aErgüner, Bekir$$b8
000276787 7001_ $$0P:(DE-He78)e7d83ba57c27ef97b4cd5b96693bea0f$$aLaplana, Marina$$b9
000276787 7001_ $$aDatlinger, Paul$$b10
000276787 7001_ $$aJeschke, Jana$$b11
000276787 7001_ $$aWeiderpass, Elisabete$$b12
000276787 7001_ $$aKristensen, Vessela$$b13
000276787 7001_ $$aDelaloge, Suzette$$b14
000276787 7001_ $$aFuks, François$$b15
000276787 7001_ $$0P:(DE-He78)4981f4ef151aea881f38b33df8e35a21$$aRisch, Angela$$b16
000276787 7001_ $$aGhantous, Akram$$b17
000276787 7001_ $$0P:(DE-He78)4301875630bc997edf491c694ae1f8a9$$aPlass, Christoph$$b18$$udkfz
000276787 7001_ $$aBock, Christoph$$b19
000276787 7001_ $$0P:(DE-He78)4b2dc91c9d1ac33a1c0e0777d0c1697a$$aKaaks, Rudolf$$b20$$eLast author$$udkfz
000276787 7001_ $$aHerceg, Zdenko$$b21
000276787 773__ $$0PERI:(DE-600)2553921-8$$a10.1186/s13148-023-01509-6$$gVol. 15, no. 1, p. 102$$n1$$p102$$tClinical epigenetics$$v15$$x1868-7075$$y2023
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