title: DNA methylation markers for early detection of women's cancer: promise and challenges.
abstract: Breast, ovarian and endometrial cancers cause significant morbidity and mortality. Despite the presence of existing screening, diagnostic and treatment modalities, they continue to pose considerable unsolved challenges. Overdiagnosis is a growing problem in breast cancer screening and neither screening nor early diagnosis of ovarian or endometrial cancer is currently possible. Moreover, treatment of the diversity of these cancers presenting in the clinic is not sufficiently personalized at present. Recent technological advances, including reduced representation bisulfite sequencing, methylation arrays, digital PCR, next-generation sequencing and advanced statistical data analysis, enable the analysis of methylation patterns in cell-free tumor DNA in serum/plasma. Ongoing work is bringing these methods together for the analysis of samples from large clinical trials, which have been collected well in advance of cancer diagnosis. These efforts pave the way for the development of a noninvasive method that would enable us to overcome existing challenges to personalized medicine.
authors.affiliation: Genedata AG, Margarethenstrasse 38, 4053 Basel, Switzerland.
authors.forename: Timo
authors.initials: T
authors.lastname: Wittenberger
authors.forename: Sara
authors.initials: S
authors.lastname: Sleigh
authors.forename: Daniel
authors.initials: D
authors.lastname: Reisel
authors.forename: Michal
authors.initials: M
authors.lastname: Zikan
authors.forename: Benjamin
authors.initials: B
authors.lastname: Wahl
authors.forename: Marianna
authors.initials: M
authors.lastname: Alunni-Fabbroni
authors.forename: Allison
authors.initials: A
authors.lastname: Jones
authors.forename: Iona
authors.initials: I
authors.lastname: Evans
authors.forename: Julian
authors.initials: J
authors.lastname: Koch
authors.forename: Tobias
authors.initials: T
authors.lastname: Paprotka
authors.forename: Harri
authors.initials: H
authors.lastname: Lempiäinen
authors.forename: Tamas
authors.initials: T
authors.lastname: Rujan
authors.forename: Brigitte
authors.initials: B
authors.lastname: Rack
authors.forename: David
authors.initials: D
authors.lastname: Cibula
authors.forename: Martin
authors.initials: M
authors.lastname: Widschwendter
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis*; D019175:DNA Methylation; D055088:Early Detection of Cancer / Q000379:methods; D005260:Female; D005833:Genital Neoplasms, Female / Q000175:diagnosis*; D023281:Genomics; D006801:Humans; D057285:Precision Medicine
chemical_list: D014408:Biomarkers, Tumor
keywords: DNA methylation; cancer; circulating cell-free DNA; digital PCR; epigenetics; methylation arrays; personalized medicine; plasma; reduced representation bisulfite sequencing; screening; serum