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Title: Genome-wide DNA methylation assessment of 'BRCA1-like' early-onset breast cancer: Data from the Australian Breast Cancer Family Registry.
Austin Authors: Scott, Cameron M;Wong, Ee Ming;Joo, JiHoon Eric;Dugué, Pierre-Antoine;Jung, Chol-Hee;O'Callaghan, Neil;Dowty, James;Giles, Graham G;Hopper, John L;Southey, Melissa C
Affiliation: School of Cancer Medicine, La Trobe University, Heidelberg, Victoria, Australia
Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton 3168, Australia
Colorectal Oncogenomics Group, Department of Clinical Pathology, University of Melbourne Centre for Cancer Research, The University of Melbourne, Australia
Centre for Epidemiology and Biostatistics, The University of Melbourne, VIC 3010, Australia
Melbourne Bioinformatics, The University of Melbourne, Parkville, Victoria, Australia
Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, VIC 3004, Australia
Genetic Epidemiology Laboratory, Department of Clinical Pathology, The University of Melbourne, VIC 3010, Australia
Issue Date: 10-Nov-2018 2018-11-10
Publication information: Experimental and molecular pathology 2018; 105(3): 404-410
Abstract: Breast cancers arising in women carrying a germline mutation in BRCA1 are typically high-grade, early-onset and have distinct morphological features (BRCA1-like). However, the majority of early-onset breast cancers of this morphological type are not associated with germline BRCA1 mutations or constitutional BRCA1 promoter methylation. We aimed to assess DNA methylation across the genome for associations with the "BRCA1-like" morphology. Genome-wide methylation in blood-derived DNA was measured using the Infinium HumanMethylation450K BeadChip assay for women under the age of 40 years participating in the Australian Breast Cancer Family Study (ABCFS) diagnosed with: i) BRCA1-like breast cancer (n = 30); and ii) breast cancer without BRCA1-like morphological features (non BRCA1-like; n = 30), and age-matched unaffected women (controls; n = 30). Corresponding tumour-derived DNA from 43 of the affected women was also assessed. Methylation of blood-derived DNA was found to be elevated across 17 consecutive marks in the BRCA1 promoter region and decreased at several other genomic regions (including TWIST2 and CTBP1) for 7 women (23%) diagnosed with BRCA1-like breast cancer compared with women in the other groups. Corresponding tumour-derived DNA available from 5 of these 7 women had elevated methylation within the BRCA1 and SPHK2 promoter region and decreased methylation within the ADAP1, IGF2BP3 and SPATA13 promoter region when compared with the other breast tumours. These methylation marks could be biomarkers of risk for BRCA1-like breast cancer, and could be responsible in part for their distinctive morphological features and biology. As such, they may assist with prevention and targeted therapies for this cancer subtype.
DOI: 10.1016/j.yexmp.2018.11.006
Journal: Experimental and molecular pathology
PubMed URL: 30423315
Type: Journal Article
Subjects: BRCA1
Early-Onset Breast cancer
Appears in Collections:Journal articles

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