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Clinical and Translational Oncology
Published in: Clinical and Translational Oncology 9/2018

01-09-2018 | Brief Research Article

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

Authors: M. Rodríguez-Balada, B. Roig, M. Melé, M. Salvat, L. Martorell, J. Borràs, J. Gumà

Published in: Clinical and Translational Oncology | Issue 9/2018

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Abstract

Purpose

Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome.

Methods

We analyzed germline BRCA promoter hypermethylation in HBOC patients with and without BRCA mutations and control subjects, using a recently developed BRCA methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay.

Results

Neither the patients tested nor the control subjects showed germline hypermethylation of the BRCA1 and BRCA2 promoter regions analyzed.

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.
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Metadata
Title
Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients
Authors
M. Rodríguez-Balada
B. Roig
M. Melé
M. Salvat
L. Martorell
J. Borràs
J. Gumà
Publication date
01-09-2018
Publisher
Springer International Publishing
Published in
Clinical and Translational Oncology / Issue 9/2018
Print ISSN: 1699-048X
Electronic ISSN: 1699-3055
DOI
https://doi.org/10.1007/s12094-018-1837-0

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