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Discordant pattern of BRCA1 gene epimutation in blood between mothers and daughters

Wojdacz, Tomasz K LU ; Harari, Florencia; Vahter, Marie and Broberg, Karin LU (2015) In Journal of Clinical Pathology 68(7). p.7-575
Abstract

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... (More)

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.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Adolescent, Adult, Aged, Aged, 80 and over, Argentina, BRCA1 Protein/genetics, Child, DNA Methylation, Female, Gene-Environment Interaction, Healthy Volunteers, Heredity, Humans, Middle Aged, Mothers, Promoter Regions, Genetic, Young Adult
in
Journal of Clinical Pathology
volume
68
issue
7
pages
3 pages
publisher
BMJ Publishing Group
external identifiers
  • scopus:84933183027
ISSN
1472-4146
DOI
10.1136/jclinpath-2015-202982
language
English
LU publication?
no
id
477b2c42-2426-447a-838c-8c905ade7fa9
date added to LUP
2019-02-08 13:54:29
date last changed
2019-02-20 11:49:46
@article{477b2c42-2426-447a-838c-8c905ade7fa9,
  abstract     = {<p>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. </p>},
  author       = {Wojdacz, Tomasz K and Harari, Florencia and Vahter, Marie and Broberg, Karin},
  issn         = {1472-4146},
  keyword      = {Adolescent,Adult,Aged,Aged, 80 and over,Argentina,BRCA1 Protein/genetics,Child,DNA Methylation,Female,Gene-Environment Interaction,Healthy Volunteers,Heredity,Humans,Middle Aged,Mothers,Promoter Regions, Genetic,Young Adult},
  language     = {eng},
  number       = {7},
  pages        = {7--575},
  publisher    = {BMJ Publishing Group},
  series       = {Journal of Clinical Pathology},
  title        = {Discordant pattern of BRCA1 gene epimutation in blood between mothers and daughters},
  url          = {http://dx.doi.org/10.1136/jclinpath-2015-202982},
  volume       = {68},
  year         = {2015},
}