Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients.

Marta Rodriguez-Balada B Roig Mireia Melé Olivé M Salvat Lourdes Martorell J Borràs Josep Gumà Padró

Published in: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico (2018)

Despite the results achieved at somatic levels by other researchers, these were not confirmed in our study at the germline level. Our results show the need to establish more predictive CpG sites in the BRCA promoter regions to optimize the MS-MLPA assay for the detection of germline hypermethylation as an effective pre-screening tool for whole-BRCA genetic analysis in HBOC, because we can not rule out the existence of germline promoter hypermethylation in BRCA.

Keyphrases

dna methylation
dna repair
breast cancer risk
transcription factor
gene expression
genome wide
multiple sclerosis
high throughput
oxidative stress
copy number