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

CONCLUSIONS: 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. PMID: 29404838 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29404838?dopt=Abstract

Source: Clinical Breast Cancer - February 5, 2018 Category: Cancer & Oncology Authors: Rodríguez-Balada M, Roig B, Melé M, Salvat M, Martorell L, Borràs J, Gumà J Tags: Clin Transl Oncol Source Type: research