The DOI matches its Crossref record; 39 of the 41 references it cites were found in a registry or an index.
Promoter Hypermethylation and BRCA1 Inactivation in Sporadic Breast and Ovarian Tumors
Abstract
BACKGROUND: Inherited mutations in the BRCA1 gene may be responsible for almost half of inherited breast carcinomas. However, somatic (acquired) mutations in BRCA1 have not been reported, despite frequent loss of heterozygosity (LOH or loss of one copy of the gene) at the BRCA1 locus and loss of BRCA1 protein in tumors. To address whether BRCA1 may be inactivated by pathways other than mutations in sporadic tumors, we analyzed the role of hypermethylation of the gene's promoter region. METHODS: Methylation patterns in the BRCA1 promoter were assessed in breast cancer cell lines, xenografts, and 215 primary breast and ovarian carcinomas by methylation-specific polymerase chain reaction (PCR). BRCA1 RNA expression was determined in cell lines and seven xenografts by reverse transcription-PCR. P values are two-sided. RESULTS: The BRCA1 promoter was found to be unmethylated in all normal tissues and cancer cell lines tested. However, BRCA1 promoter hypermethylation was present in two breast cancer xenografts, both of which had loss of the BRCA1 transcript. BRCA1 promoter hypermethylation was present in 11 (13%) of 84 unselected primary breast carcinomas. BRCA1 methylation was strikingly associated with the medullary (67% methylated; P =.0002 versus ductal) and mucinous (55% methylated; P =.0033 versus ductal) subtypes, which are overrepresented in BRCA1 families. In a second series of 66 ductal breast tumors informative for LOH, nine (20%) of 45 tumors with LOH had BRCA1 hypermethylation, while one (5%) of 21 without LOH was methylated (P =.15). In ovarian neoplasms, BRCA1 methylation was found only in tumors with LOH, four (31%) of 13 versus none of 18 without LOH (P =.02). The BRCA1 promoter was unmethylated in other tumor types. CONCLUSION: Silencing of the BRCA1 gene by promoter hypermethylation occurs in primary breast and ovarian carcinomas, especially in the presence of LOH and in specific histopathologic subgroups. These findings support a role for this tumor suppressor gene in sporadic breast and ovarian tumorigenesis.
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“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 [65]
In the citing paper
“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 [65]
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“histologic subtypes, as well as in a panel of 21 breast cancer cell lines, methylation of the BRCA1 promoter was not detected.(35,43) Furthermore, according to The Cancer Genome Atlas (TCGA), unlike BRCA1/2 mutations, ovarian cancers with epigenetic silencing of”
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“BRCA promoter hypermethylation as a gene silencing mechanism has been reported in 11%–30% and 42%–51% of sporadic breast cancer and non-BRCA1/BRCA2 related hereditary breast cancers, respectively [19, 42, 76, 171].”
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Self-citationDetection of Breast Cancer in Nipple Aspirate Fluid by CpG Island Hypermethylation
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BackgroundmiR-9 Regulation of BRCA1 and Ovarian Cancer Sensitivity to Cisplatin and PARP Inhibition
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“Although promoter methylation may result in low levels of BRCA1 (10,11), aberrant methylation of the BRCA1 promoter is only found in a moderate”
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BackgroundBRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles
Matros, E., Wang, Z. C., Lodeiro, G., Miron, A., Iglehart, J. D., & Richardson, A. L. (2005) · Breast Cancer Research and Treatment · doi:10.1007/s10549-004-7603-8 · Cited by 169
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Epigenetics of breast cancer: Biology and clinical implication in the era of precision medicine
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“(30) reported that BRCA1 methylation was associated with the less common medullary (67% methy-”
BackgroundPARP Inhibitor Treatment in Ovarian and Breast Cancer
Weil, M. K., & Chen, A. P. (2011) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2010.12.002 · Cited by 163
Minireview: Basal-Like Breast Cancer: From Molecular Profiles to Targeted Therapies
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“the majority of which are ER-negative tumors (56, 57).”
BackgroundEpigenetic Drug Discovery: Targeting DNA Methyltransferases
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“CpG island hypermethylation has been demonstrated in gynecologic cancers [11-16].”
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“Sporadic tumours with BRCA1 promoter methylation have been reported to be ER and PR negative [13,14], or to display similar pathological features to those of BRCA1-mutated hereditary breast cancers [15].”
BackgroundGermline Epigenetic Regulation of KILLIN in Cowden and Cowden-like Syndrome
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Manié, É., Vincent‐Salomon, A., Lehmann‐Che, J., Pierron, G., Turpin, E., Warcoin, M., Gruel, N., Lebigot, I., Sastre‐Garau, X., Lidereau, R., et al. (2009) · Cancer Research · doi:10.1158/0008-5472.can-08-1560 · Cited by 152
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Self-citationAdenomatous polyposis coli (APC) gene promoter hypermethylation in primary breast cancers
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“In order to test this hypothesis, we investigated the methylat status of APCgene promoter 1A (Esteller et al, 2000b; Tsuchiya al, 2000) in DNAs from 50 breast cancers, as well as from 21 n tumorous breast tissues by using the methylation-specific P (MSP) method.”
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“…drugs to re-establish the expression of BRCA1, which was found to be inactivated by promoter methylation in sporadic breast and ovarian cancers, and of its effector GADD45 that participates in the growth arrest triggered by DNA damage (Esteller et al., 2000a; Wang et al., 2005; Wei et al., 2005).”
BackgroundPromoter Hypermethylation Profile of Ovarian Epithelial Neoplasms
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Frequency of BRCA1 Dysfunction in Ovarian Cancer
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“The methylated product was 75 base pairs (bp), and the unmethylated product was 86 bp ( 18 ).”
BackgroundMethodResultInfluentialBRCA1 Regulates Acetylation and Ubiquitination of Estrogen Receptor-α
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“One of the most impressive examples of the phenotypic consequences of aberrant methylation patterns is epigenetic silencing of tumor suppressor genes such as BRCA1 that plays an important role in breast and ovarian cancer development (Esteller et al., 2000; Hansmann et al., 2012).”
BackgroundTherapeutic targets in triple negative breast cancer
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“p16 (18), GSTP1 (20), BRCA1 (21), RAR 2 (22), TR 1 (23),”
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“Five hundred ng of neoplastic DNA was bisulfite converted with an EZ Methylation Direct kit (Zymo Research, Irvine, CA) and evaluated with methylation sensitive PCR as previously described (Esteller et al., 2000).”
MethodCancer Epigenetics: Dna Methylation and Chromatin Alterations in Human Cancer
Esteller, M. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0081-0_5 · Cited by 137
Self-citationGenetic susceptibility for breast cancer: How many more genes to be found?
Oldenburg, R. A., Meijers-Heijboer, H. E. J., Cornelisse, C. J., & Devilee, P. (2007) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2006.12.004 · Cited by 138
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Huang, Y., Nayak, S. R., Jankowitz, R. C., Davidson, N. E., & Oesterreich, S. (2011) · Breast Cancer Research · doi:10.1186/bcr2925 · Cited by 144
Aberrant Methylation of Gene Promoters in Cancer--Concepts, Misconcepts, and Promise
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BRCA1 and BRCA2: Chemosensitivity, Treatment Outcomes and Prognosis
Foulkes, W. D. (2006) · Familial Cancer · doi:10.1007/s10689-005-2832-5 · Cited by 138
Mutator pathways unleashed by epigenetic silencing in human cancer
Jacinto, F. V., & Esteller, M. (2007) · Mutagenesis · doi:10.1093/mutage/gem009 · Cited by 135
“Consequently, it was not surprising when different groups reported that BRCA1 was epigenetically silenced by promoter hypermethylation in breast and ovarian primary tumours and cell lines (28,29,30).”
BackgroundSelf-citationBeyond the genetic lesions: gene inactivation by promoter hypermethylation in human cancer
Esteller, M., Baylin, S. B., & Herman, J. G. (2000) · Revista de Oncología · doi:10.1007/bf02979467 · Cited by 139
Self-citationGenomic insights into cancer-associated aberrant CpG island hypermethylation
Sproul, D., & Meehan, R. R. (2013) · Briefings in Functional Genomics · doi:10.1093/bfgp/els063 · Cited by 135
“Recent studies of BRCA1 have failed to observe instances of LOH through hypermethylation, suggesting that it might be a very rare event [38, 39].”
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Novel Approaches to Ovarian Cancer Screening
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Ionizing Radiation-Induced Epigenetic Modifications and Their Relevance to Radiation Protection
Belli, M., & Tabocchini, M. A. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21175993 · Cited by 138
DNA methylation in thyroid cancer
Zafón, C., Gil, J., Pérez-González, B., & Jordà, M. (2019) · Endocrine Related Cancer · doi:10.1530/erc-19-0093 · Cited by 138
Inhibition of poly(ADP-ribosyl)ation in cancer: Old and new paradigms revisited
Lupo, B., & Trusolino, L. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.07.004 · Cited by 135
“Reportedly, the molecular mechanisms underlying this similarity include transcriptional down-regulation or (more frequently) epigenetic silencing of BRCA1 [69–72].”
HIN-1, a putative cytokine highly expressed in normal but not cancerous mammary epithelial cells
Krop, I. E., Sgroi, D. C., PORTER, D. A., Lunetta, K. L., LeVangie, R., Seth, P., Kaelin, C. M., Rhei, E., Bosenberg, M., Schnitt, S. J., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.171138398 · Cited by 130
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Stefánsson, Ó. A., Villanueva, A., Vidal, A., Martí, L., & Esteller, M. (2012) · Epigenetics · doi:10.4161/epi.22561 · Cited by 130
Self-citationCerrato, A., Morra, F., & Celetti, A. (2016) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-016-0456-2 · Cited by 132
Biological Subtypes of Triple-Negative Breast Cancer
Hubalek, M., Czech, T., & Müller, H. M. (2017) · Breast Care · doi:10.1159/000455820 · Cited by 128
DNA Promoter Hypermethylation of p16 and APC Predicts Neoplastic Progression in Barrett's Esophagus
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“(123, 124), but the majority of BRCA1 mutant cancers are ER - and progesterone receptor (PR)-negative (129).”
BackgroundBRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies
Fu, X., Tan, W., Song, Q., Pei, H., & Li, J. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.813457 · Cited by 142
“, 2019) and NCCN (Esteller et al., 2000) of the United States stated that prophylactic RRSO may significantly reduce the risk of BC and ovarian cancer in women with BRCA1 gene mutation after the completion of reproductive needs.”
BackgroundInfluentialOsório, A., de la Hoya, M., Rodríguez‐López, R., Martínez‐Ramírez, Á., Cazorla, A., Granizo, J. J., Esteller, M., Rivas, C., Caldés, T., & Benitez, J. J. (2002) · International Journal of Cancer · doi:10.1002/ijc.10337 · Cited by 125
Self-citationIdentification of genes induced by BRCA1 in breast cancer cells
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“In 5-10% of sporadic breast tumours, BRCA1 transcription is silenced by the methylation of CpG residues, which leads to absence of protein expression (Esteller et al., 2000).”
Lee, M.-N., Tseng, R., Hsu, H., Chen, J.-Y., Tzao, C., Ho, W. L., & Wang, Y. (2007) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-05-2694 · Cited by 124
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Poly(ADP-ribose) polymerase inhibitors in cancer treatment: A clinical perspective
Sandhu, S. K., Yap, T. A., & Bono, J. S. D. (2009) · European Journal of Cancer · doi:10.1016/j.ejca.2009.10.021 · Cited by 123
Epigenetics in Breast and Prostate Cancer
Wu, Y., Sarkissyan, M., & Vadgama, J. V. (2014) · Methods in molecular biology · doi:10.1007/978-1-4939-1804-1_23 · Cited by 128
Hypermethylation leads to silencing of the SYK gene in human breast cancer.
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PTEN promoter is methylated in a proportion of invasive breast cancers
Khan, S., Kumagai, T., Vora, J., Bose, N., Sehgal, I., Koeffler, H. P., & Bose, S. (2004) · International Journal of Cancer · doi:10.1002/ijc.20447 · Cited by 120
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Metadata
- Authors
- Esteller, M.
- Affiliations
- Roswell Park Comprehensive Cancer Center (US)
- Corresponding author
- Esteller, M.
- ORCID
- Esteller, M.
- Venue
- Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-04-05
- Volume
- 92
- Issue
- 7
- Pages
- 564-569
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2160234594
- Cited by
- 1,233
- References
- 41
- Citations by year
- 2026: 20 · 2025: 33 · 2024: 37 · 2023: 46 · 2022: 49 · 2021: 40 · 2020: 53 · 2019: 43 · 2018: 60 · 2017: 48 · 2016: 52 · 2015: 69 · 2014: 56 · 2013: 57 · 2012: 69
- FWCI
- 22.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JNCI Journal of the National Cancer Institute (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Funders
- National Cancer Institute (R01CA043318, CA 43318)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Keywords
- BRCA1 promoter hypermethylation, sporadic breast cancer, ovarian cancer, loss of heterozygosity, gene silencing, tumor suppressor, medullary breast carcinoma, mucinous breast carcinoma, histological subtypes, epigenetic silencing, breast cancer xenografts
- MeSH terms
- Breast Neoplasms, Female, Humans, Methylation, Ovarian Neoplasms, Promoter Regions, Genetic, RNA, RNA, Neoplasm, Transplantation, Heterologous, Tumor Cells, Cultured, Gene Expression Regulation, Neoplastic, Carcinoma, Ductal, Breast, Genes, BRCA1, Loss of Heterozygosity, Reverse Transcriptase Polymerase Chain Reaction
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