Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics
Abstract
Reduced expression of BRCA1 has been reported in sporadic breast cancer, although the mechanisms underlying this phenomenon remain unclear. Abnormal methylation leading to silencing of tumour suppressor genes has been implicated in tumorigenesis in a wide range of sporadic cancers. Therefore, we sought to determine the frequency of methylation within the BRCA1 promoter region in a large group of sporadic invasive breast (n =96) and ovarian (n = 43) carcinomas using Southern analyses. Overall, methylation was detected in 11% of breast cancer cases and in 5% of ovarian tumours. Methylation of the BRCA1 promoter region was strongly correlated with lack of estrogen and progesterone receptor expression. It is clear from the frequency of abnormal methylation of the BRCA1 promoter region, that this cannot be the sole mechanism mediating the reduced expression of BRCA1 that has previously been reported to occur in the majority of invasive sporadic breast tumours. Nevertheless this study suggests that abnormal methylation of the BRCA1 promoter may be important in tumorigenesis in a subset of sporadic breast and ovarian cancers.
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Mutations outside the reading frame or promoter methylation changes could alter FANCJ expression and contribute to tumorigenesis.
“Given that changes in BRCA1 promoter status contribute to sporadic tumors [64,65], mutations outside the reading frame or changes in promoter methylation status could alter FANCJ expression and contribute to tumorigenesis.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [64]
Changes in BRCA1 promoter status contribute to sporadic tumors.
“Given that changes in BRCA1 promoter status contribute to sporadic tumors [64,65], mutations outside the reading frame or changes in promoter methylation status could alter FANCJ expression and contribute to tumorigenesis.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [64]
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- Authors
- Catteau, A., Harris, W. H., Xu, C.-F., & Solomon, E.
- Affiliations
- Guy's Hospital (GB)
- Venue
- Oncogene
- Published
- 1999-03-18
- Volume
- 18
- Issue
- 11
- Pages
- 1957-1965
- ISSN
- 0950-9232 (ISSN-L)
- 1476-5594
- OpenAlex
- W2036245489
- Cited by
- 354
- References
- 33
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 8 · 2023: 6 · 2022: 3 · 2021: 7 · 2020: 8 · 2019: 4 · 2018: 11 · 2017: 8 · 2016: 7 · 2015: 11 · 2014: 12 · 2013: 22 · 2012: 18
- FWCI
- 8.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Oncogene (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Israel Cancer Research Fund
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Keywords
- BRCA1, promoter methylation, sporadic breast cancer, ovarian cancer, tumor suppressor gene silencing, estrogen receptor, progesterone receptor, carcinogenesis, DNA methylation
- MeSH terms
- Adult, Aged, Breast Neoplasms, Female, Humans, Middle Aged, Ovarian Neoplasms, Promoter Regions, Genetic, DNA Methylation, BRCA1 Protein
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