RT Journal Article
SR Electronic
T1 Discordant pattern of <em>BRCA1</em> gene epimutation in blood between mothers and daughters
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 575
OP 577
DO 10.1136/jclinpath-2015-202982
VO 68
IS 7
A1 Tomasz K Wojdacz
A1 Florencia Harari
A1 Marie Vahter
A1 Karin Broberg
YR 2015
UL http://jcp.bmj.com/content/68/7/575.abstract
AB Methylation of the promoter of BRCA1 gene in peripheral blood (epimutation) has been associated with increased risk for breast cancer. Some studies have indicated that this epimutation is of constitutional origin and hence it could potentially be transmitted across generations. We used methylation sensitive high resolution melting technique to measure methylation of BRCA1 promoter in blood samples from 226 healthy women from the Andean region in Salta province, northern Argentina. In total 29 (13%) of the women showed detectable methylation of this gene. The analyses of mother-daughter pairs in this study, showed discordant methylation of BRCA1 between generations, with mothers tested positive for BRCA1 methylation in blood having daughters without signs of BRCA1 methylation, and vice versa. Our results show that the BRCA1 epimutation is unlikely transmitted from mother to daughters and hence may be a consequence of environmental exposure.