Promoter methylation patterns of ATM, ATR, BRCA1, BRCA2 and P53 as putative cancer risk modifiers in Jewish BRCA1/BRCA2 mutation carriers

Tair Kontorovich, Yoram Cohen, Uri Nir, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

BRCA1/BRCA2 germline mutations substantially increase breast and ovarian cancer risk, yet penetrance is incomplete. We hypothesized that germline epigenetic gene silencing may affect mutant BRCA1/2 penetrance. To test this notion, we determined the methylation status, using methylation-specific quantitative PCR of the promoter in putative modifier genes: BRCA1, BRCA2, ATM, ATR and P53 in Jewish BRCA1/BRCA2 mutation carriers with (n = 41) or without (n = 48) breast cancer, in sporadic breast cancer (n = 52), and healthy controls (n = 89). Promoter hypermethylation was detected only in the BRCA1 promotor in 5.6-7.3% in each of the four subsets of participants, regardless of health and BRCA1/2 status.Germline promoter hypermethylation in the BRCA1 gene can be detected in about 5% of the female Israeli Jewish population, regardless of the BRCA1/2 status. The significance of this observation is yet to be determined.

Original languageEnglish
Pages (from-to)195-200
Number of pages6
JournalBreast Cancer Research and Treatment
Volume116
Issue number1
DOIs
StatePublished - Jul 2009

Bibliographical note

Funding Information:
Acknowledgements This study was done in part as fulfillment for the degree of Master of Sciences by Tair Knntorovich at the Department of life science, Bar Ilan University. This study was in part funded by a grant from the Israel cancer association to Eitan Friedman.

Funding

Acknowledgements This study was done in part as fulfillment for the degree of Master of Sciences by Tair Knntorovich at the Department of life science, Bar Ilan University. This study was in part funded by a grant from the Israel cancer association to Eitan Friedman.

FundersFunder number
Israel cancer

    Keywords

    • BRCA1 BRCA2
    • Cancer susceptibility
    • Epigenetic mechanisms
    • Methylation
    • Modifier genes

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