Genome-wide DNA methylation profiles in progression to in situ and invasive carcinoma of the breast with impact on gene transcription and prognosis
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- 作者：Thomas Fleischer (1) (2)
Arnoldo Frigessi (3)
Kevin C Johnson (4) (5)
Hege Edvardsen (1)
Nizar Touleimat (6)
Jovana Klajic (1) (2) (7)
Margit LH Riis (7) (8) (9)
Vilde D Haakensen (1) (2)
Fredrik W盲rnberg (10)
Bj酶rn Naume (11)
脜slaug Helland (1) (11)
Anne-Lise B酶rresen-Dale (1) (2)
J枚rg Tost (6)
Brock C Christensen (4) (5)
Vessela N Kristensen (1) (2) (7)
1. Department of Genetics ; Institute for Cancer Research ; OUS Radiumhospitalet ; Montebello ; 0310 ; Oslo ; Norway
2. The K.G. Jebsen Center for Breast Cancer Research ; Institute for Clinical Medicine ; Faculty of Medicine ; University of Oslo ; 0318 ; Oslo ; Norway
3. Oslo Centre for Biostatistics and Epidemiology ; Department of Biostatistics ; University of Oslo and Research Support Services ; Oslo University Hospital ; 0424 ; Oslo ; Norway
4. Department of Community and Family Medicine ; Section of Biostatistics and Epidemiology ; Geisel School of Medicine at Dartmouth ; Hanover ; NH ; 03755-1404 ; USA
5. Department of Pharmacology and Toxicology ; Geisel School of Medicine at Dartmouth ; Hanover ; NH ; 03755-1404 ; USA
6. Institut de G茅nomique ; Laboratory for Epigenetics and Environment ; Centre National de G茅notypage ; CEA ; 91000 ; Evry ; France
7. Department of Clinical Molecular Biology and Laboratory Science (EpiGen) ; Division of Medicine ; Akershus University hospital ; 1476 ; L酶renskog ; Norway
8. Department of Surgery ; Akershus University Hospital ; 1478 ; L酶renskog ; Norway
9. Department of Breast and Endocrine Surgery ; Oslo University Hospital ; Ullev氓l ; 0450 ; Oslo ; Norway
10. Department of Surgery ; Uppsala Academic Hospital ; Uppsala University ; Uppsala ; SE-75185 ; Sweden
11. Department of Oncology ; Oslo University Hospital Radiumhospitalet ; 0379 ; Oslo ; Norway - 刊名：Genome Biology
- 出版年：2014
- 出版时间：August 2014
- 年：2014
- 卷：15
- 期：8
- 全文大小：2,730 KB
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- 出版者：BioMed Central
- ISSN：1465-6906
文摘
Background Ductal carcinoma in situ (DCIS) of the breast is a precursor of invasive breast carcinoma. DNA methylation alterations are thought to be an early event in progression of cancer, and may prove valuable as a tool in clinical decision making and for understanding neoplastic development. Results We generate genome-wide DNA methylation profiles of 285 breast tissue samples representing progression of cancer, and validate methylation changes between normal and DCIS in an independent dataset of 15 normal and 40 DCIS samples. We also validate a prognostic signature on 583 breast cancer samples from The Cancer Genome Atlas. Our analysis reveals that DNA methylation profiles of DCIS are radically altered compared to normal breast tissue, involving more than 5,000 genes. Changes between DCIS and invasive breast carcinoma involve around 1,000 genes. In tumors, DNA methylation is associated with gene expression of almost 3,000 genes, including both negative and positive correlations. A prognostic signature based on methylation level of 18 CpGs is associated with survival of breast cancer patients with invasive tumors, as well as with survival of patients with DCIS and mixed lesions of DCIS and invasive breast carcinoma. Conclusions This work demonstrates that changes in the epigenome occur early in the neoplastic progression, provides evidence for the possible utilization of DNA methylation-based markers of progression in the clinic, and highlights the importance of epigenetic changes in carcinogenesis.