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]
Citations
Cites
A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
Miki, Y., Swensen, J. J., Shattuck-Eidens, D. M., Futreal, P. A., Harshman, K., Tavtigian, S. V., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,069
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.
Herman, J. G., Graff, J. R., Myöhänen, S., Nelkin, B. D., & Baylin, S. B. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.18.9821 · Cited by 5,634
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
Hall, J., Lee, M. K., Newman, B. M., Morrow, J. E., Anderson, L. A., Huey, B., & King, M. (1990) · Science · doi:10.1126/science.2270482 · Cited by 2,544
Cancer-epigenetics comes of age
Jones, P. A., & Laird, P. W. (1999) · Nature Genetics · doi:10.1038/5947 · Cited by 2,358
Alterations in DNA Methylation: A Fundamental Aspect of Neoplasia
Baylln, S. B., Herman, J. G., Graff, J. R., Vertino, P. M., & Issa, J. J. (1997) · Advances in cancer research · doi:10.1016/s0065-230x(08)60702-2 · Cited by 1,919
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
Herman, J. G., Umar, A., Polyák, K., Graff, J. R., Ahuja, N., Issa, J. J., Markowitz, S. D., Willson, J. K. V., Hamilton, S. R., Kinzler, K. W., et al. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.12.6870 · Cited by 1,887
Kane, M., Loda, M. F., Gaida, G. M., Lipman, J., Mishra, R., Goldman, H., Jessup, J. M., & Kolodner, R. D. (1997) · PubMed · Cited by 1,476
Esteller, M., Hamilton, S. R., Burger, P. C., Baylin, S. B., & Herman, J. G. (1999) · PubMed · Cited by 1,253
Self-citationFriedman, L. S., Ostermeyer, E. A., Szabo, C. I., Dowd, P., Lynch, E. D., Rowell, S. E., & King, M. (1994) · Nature Genetics · doi:10.1038/ng1294-399 · Cited by 622
Thompson, M. E., Jensen, R. A., Obermiller, P. S., Page, D. L., & Holt, J. T. (1995) · Nature Genetics · doi:10.1038/ng0495-444 · Cited by 584
Cited by
Sorted by citations
Items 301–400 of 1,000
Marques, M., Laflamme, L., & Gaudreau, L. R. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt595 · Cited by 83
“Despite hypermethylation of tumor suppressor gene promoters (38,39), global 5-methylcytosine content is decreased in tumor cells (40).”
BackgroundThe impact of next-generation sequencing on the DNA methylation–based translational cancer research
Soto, J. A., Rodríguez‐Antolín, C., Vallespín, E., de Castro, J., & de Cáceres, I. I. (2015) · Translational research · doi:10.1016/j.trsl.2015.11.003 · Cited by 90
“The breast cancer 1 (BRCA1) gene is frequently mutated in inherited breast cancer and transcriptional repression related to hypermethylation is also observed in breast and ovarian cancers.(37) Patients who harbor BRCA1 genetic and epigenetic aberrations benefit in terms of conventional chemotherapy or Poly (ADP-ribose…”
BackgroundAlkema, N. G., Wisman, G. B. A., van der Zee, A. G. J., van Vugt, M. A. T. M., & de Jong, S. (2015) · Drug Resistance Updates · doi:10.1016/j.drup.2015.11.005 · Cited by 84
DNA Methylation: Its Role in Cancer Development and Therapy
Kurkjian, C. D., Kummar, S., & Murgo, A. J. (2008) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2008.08.002 · Cited by 80
Epigenetic regulation of BACE1 in Alzheimer’s disease patients and in transgenic mice
Marques, S., Lemos, R., Ferreiro, E. B., Martins, M., de Mendonça, A., Santana, I. J., Outeiro, T. F., & Pereira, C. (2012) · Neuroscience · doi:10.1016/j.neuroscience.2012.06.029 · Cited by 84
“Epigenetic alterations are responsible for gene deregulation in several human disorders, but their role in AD is still poorly understood (Esteller et al., 2000; Nguyen et al., 2001; Dempster et al., 2011).”
Potential of DNMT and its Epigenetic Regulation for Lung Cancer Therapy
Tang, M., Xu, W., Qizhao, W., Xiao, W., & Xu, R. (2009) · Current Genomics · doi:10.2174/138920209788920994 · Cited by 81
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas
Manié, É., Popova, T. G., Battistella, A., Tarabeux, J., Caux‐Moncoutier, V., Golmard, L., Smith, N. K., Mueller, C. R., Mariani, O., Sigal‐Zafrani, B., et al. (2015) · International Journal of Cancer · doi:10.1002/ijc.29829 · Cited by 80
Okamura, H., & Katabuchi, H. (2004) · International review of cytology · doi:10.1016/s0074-7696(04)42001-4 · Cited by 80
Papoutsis, A. J., Selmin, O. I., Borg, J. L., & Romagnolo, D. F. (2015) · Molecular Carcinogenesis · doi:10.1002/mc.22095 · Cited by 79
“example, sporadic breast tumors have absent or markedly reduced levels of BRCA-1 in the absence of mutations in the BRCA-1 gene [2–4], but the BRCA-1 promoter is hypermethylated [5–11].”
BackgroundRegulators of homologous recombination repair as novel targets for cancer treatment
Krajewska, M., Fehrmann, R. S. N., de Vries, E. G. E., & van Vugt, M. A. T. M. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2015.00096 · Cited by 81
“However, BRCA1 or BRCA2 are not only inactivated through gene mutation, also DNA hypermethylation of the genes is frequently reported for several cancers (Esteller et al., 2000; Rice et al., 2000; Cancer Genome Atlas Research Network, 2011).”
BackgroundBosviel, R., Dumollard, E., Déchelotte, P., Bignon, Y., & Bernard-Gallon, D. J. (2012) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2011.0105 · Cited by 83
“For example, hypermethylation of the tumor suppressor BRCA1 has been found in sporadic breast cancer cases (Catteau et al., 1999; Dobrovic and Simpfendorfer, 1997; Esteller et al., 2000; Hedenfalk et al., 2001; Mancini et al., 1998; Rice et al., 1998, 2000; Wessels et al., 2002).”
DNA methylation dynamics in plants and mammals: overview of regulation and dysregulation
Elhamamsy, A. R. (2016) · Cell Biochemistry and Function · doi:10.1002/cbf.3183 · Cited by 81
DNA methylation profiles in ovarian cancer: Implication in diagnosis and therapy (Review)
Koukoura, O., Spandidos, D. A., Daponte, A. I., & Sifakis, S. (2014) · Molecular Medicine Reports · doi:10.3892/mmr.2014.2221 · Cited by 79
“…non-gynaecological cancers, two opposite epigenetic phenomena occur: i) An overall global decrease in DNA methylation of heterochromatin leading to demethylation of several oncogenes, ii) specific CpG island hypermethylation associated with the promoters of tumor suppressor genes (9,20-22) (Fig.”
Digel, W., & Lübbert, M. (2005) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2005.02.002 · Cited by 79
Zhu, X., Shan, L., Wang, F., Wang, J., Wang, F., Shen, G., Liu, X., Wang, B., Yuan, Y., Ying, J., et al. (2015) · Breast Cancer Research and Treatment · doi:10.1007/s10549-015-3338-y · Cited by 78
“not the methylated cytosines to uracil [18].”
Defective homologous recombination in human cancers
Cerbinskaite, A., Mukhopadhyay, A., Plummer, E. R., Curtin, N. J., & Edmondson, R. J. (2011) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2011.04.015 · Cited by 79
Genetic alterations of candidate tumor suppressor ING1 in human esophageal squamous cell cancer.
Chen, L., Matsubara, N., Yoshino, T., Nagasaka, T., Hoshizima, N., Shirakawa, Y., Naomoto, Y., Isozaki, H., Riabowol, K. T., & Tanaka, N. (2001) · PubMed · Cited by 78
Pathology of borderline and invasive cancers
Prat, J. (2016) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2016.08.007 · Cited by 81
Haplo-insufficiency of BRCA1 in sporadic breast cancer.
Staff, S. M., Isola, J. J., & Tanner, M. (2003) · PubMed · Cited by 77
Papoutsis, A. J., Borg, J. L., Selmin, O. I., & Romagnolo, D. F. (2011) · The Journal of Nutritional Biochemistry · doi:10.1016/j.jnutbio.2011.08.001 · Cited by 77
“Higher incidence (30%–90%) of BRCA-1 hypermethylation has been reported in infiltrating tumors [2,10–12], suggesting that epigenetic repression of BRCA-1 may accompany the transition to more invasive phenotypes.”
BackgroundInfluentialOvarian Cancer: The Fallopian Tube as the Site of Origin and Opportunities for Prevention
George, S. H. L., Garcia, R., & Slomovitz, B. M. (2016) · Frontiers in Oncology · doi:10.3389/fonc.2016.00108 · Cited by 82
Álvarez, S., Díaz‐Uriarte, R., Osório, A., Barroso, A., Melchor, L., Paz, M. F., Honrado, E., Rodríguez, R., Urioste, M., Valle, L., et al. (2005) · Clinical Cancer Research · doi:10.1158/1078-0432.1146.11.3 · Cited by 76
Self-citationWolf, D. M., Yau, C. S. F., Sanil, A. P., Glas, A. M., Petricoin, E. F., Wulfkuhle, J. D., Severson, T., Linn, S. C., Swigart, L. B., Hirst, G. L., et al. (2017) · npj Breast Cancer · doi:10.1038/s41523-017-0025-7 · Cited by 76
Patel, M. A., Nowsheen, S., Maraboyina, S., & Xia, F. (2020) · Cell & Bioscience · doi:10.1186/s13578-020-00390-7 · Cited by 78
“Such findings have certainly been shown to apply to breast and ovarian cancers with wild type BRCA1/2 genes under the regulation of hypermethylated promoter regions [34, 35].”
BackgroundTargeting epigenetic regulations in cancer
Ning, B., Li, W., Zhao, W., & Wang, R. (2015) · Acta Biochimica et Biophysica Sinica · doi:10.1093/abbs/gmv116 · Cited by 77
Inhibiting the DNA damage response as a therapeutic manoeuvre in cancer
Curtin, N. J. (2013) · British Journal of Pharmacology · doi:10.1111/bph.12244 · Cited by 78
“, 2002), and methylation silencing of BRCA1 is associated with breast, ovarian and NSCLC (Dobrovic and Simpfendorfer, 1997; Esteller et al., 2000; Lee et al., 2007; Lahtz and Pfeifer, 2011).”
BackgroundInfluentialA Genomewide Screen for Suppressors of Alu-Mediated Rearrangements Reveals a Role for PIF1
Chisholm, K. M., Aubert, S. D., Freese, K. P., Zakian, V. A., King, M., & Welcsh, P. L. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030748 · Cited by 73
“Methylation of the BRCA1 promoter occurs in 11–14% [42–44] of sporadic breast cancers and in 5–31% [42,44–46] of ovarian cancers and is often associated with LOH [42,47].”
BackgroundDetection of gene promoter hypermethylation in fine needle washings from breast lesions.
Jerónimo, C., Costa, I., Martins, M. C., Monteiro, P., Lisboa, S., Palmeira, C., Henrique, R., Teixeira, M. R., & Lopes, C. (2003) · PubMed · Cited by 72
Chidamide in the treatment of peripheral T-cell lymphoma
Chan, T. S. Y., Tse, E., & Kwong, Y. (2017) · OncoTargets and Therapy · doi:10.2147/ott.s93528 · Cited by 75
“Examples of tumor suppressor genes inactivated by promoter DNA hypermethylation include RB,(12) P16,(13) and BRCA1.(14) Histone proteins form the basic repeating units of chromatin and provide a spool for DNA to wrap around.”
em BRCA1 em in cancer cell cycle and genomic stability
Jhanwar‐Uniyal, M. (2003) · Frontiers in bioscience · doi:10.2741/1131 · Cited by 76
Ferreira, D., Adega, F., & Chaves, R. (2013) · InTech eBooks · doi:10.5772/53110 · Cited by 79
“There are other genes that have shown to be hypermethylated across different types of cancer as RASSF1A (tumour suppressor gene Ras association domain family member 1) [47, 51, 56-58] and P16INK4a (cyclin-dependent kinase inhibitor) [51, 52, 56, 59-61] and genes that are hypermethylated in specific types of cancers, s…”
BackgroundTan, L., Bianco‐Miotto, T., & Dobrovic, A. (2002) · Carcinogenesis · doi:10.1093/carcin/23.2.231 · Cited by 74
Microenvironment and Pathogenesis of Epithelial Ovarian Cancer
Saad, A. F., Hu, W., & Sood, A. K. (2010) · Hormones and Cancer · doi:10.1007/s12672-010-0054-2 · Cited by 75
“Factors affecting BRCA function include alternate splicing, epigenetic factors, and other genetic causes [48–50].”
BackgroundReduced BRCA1 expression due to promoter hypermethylation in therapy-related acute myeloid leukaemia
Scardocci, A., Guidi, F., D’Alò, F., Gumiero, D., Fabiani, E., Ruscio, A. D., Martini, M., Larocca, L. M., Zollino, M., Hohaus, S., et al. (2006) · British Journal of Cancer · doi:10.1038/sj.bjc.6603392 · Cited by 73
“None of the five cell lines we analysed were hypermethylated at the BRCA1 locus and Esteller et al (2000) did not find any BRCA1 hypermethylation in 21 breast cancer cell lines.”
BackgroundMethodInfluentialAlHilli, M. M., Becker, M. A., Weroha, S. J., Flatten, K. S., Hurley, R. M., Harrell, M. I., Oberg, A. L., Maurer, M. J., Hawthorne, K. M., Hou, X., et al. (2016) · Gynecologic Oncology · doi:10.1016/j.ygyno.2016.08.328 · Cited by 73
Chang, Z., Billmyre, R. B., Lee, S. C., & Heitman, J. (2019) · PLOS Genetics · doi:10.1371/journal.pgen.1007957 · Cited by 72
“275 In the field of cancer research, there is growing awareness that carcinogenesis can be 276 driven by epimutation rather than mutations, including but not limited to cancers such as 277 hereditary nonpolyposis colorectal cancer or BRCA-associated breast cancer [31-35].”
BackgroundPromoter Methylation of PTEN Is a Significant Prognostic Factor in Melanoma Survival
Roh, M. R., Gupta, S., Park, K.-H., Chung, K. Y., Lauss, M., Flaherty, K. T., Jonsson, G. G., Rha, S. Y., & Tsao, H. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.01.024 · Cited by 76
“Epigenetic alterations play an important role in cancer progression through hypermethylation and silencing of tumor suppressor genes, and somatic PTEN hypermethylation has been recognized as a means of PTEN downregulation in a subset of malignancies such as prostate cancer, colon cancer, and endometrial carcinoma (Est…”
BackgroundEpidemiological trends and risk factors of gynecological cancers: an update
Keyvani, V., Kheradmand, N., Navaei, Z. N., Mollazadeh, S., & Esmaeili, S. (2023) · Medical Oncology · doi:10.1007/s12032-023-01957-3 · Cited by 72
DNA methylation in circulating tumour DNA as a biomarker for cancer.
Ruth E Board, Knight, L., Greystoke, A., Blackhall, F. H., Hughes, A. M., Dive, C., & Ranson, M. (2008) · PubMed Central · Cited by 72
Chodankar, R., Kwang, S. J., Sangiorgi, F. O., Hao, H., Yen, H.-Y., Deng, C., Pike, M. C., Shuler, C. F., Maxson, R. E., & Dubeau, L. (2005) · Current Biology · doi:10.1016/j.cub.2005.01.052 · Cited by 72
Chen, X., Weaver, J., Bove, B. A., Vanderveer, L., Weil, S. C., Miron, A., Daly, M. B., & Godwin, A. K. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn022 · Cited by 72
BRCAness: a deeper insight into basal-like breast tumors
Summa, S. D., Pinto, R., Sambiasi, D., Petriella, D., Paradiso, V., Paradiso, A., & Tommasi, S. (2013) · Annals of Oncology · doi:10.1093/annonc/mdt306 · Cited by 73
“Moreover, in 11%–13% of BLBCs, BRCA1promoter hypermethylation was observed [50, 51] and a high expression of ID4, a transcriptional repressor of BRCA1, has been measured [52].”
BackgroundKoyama, M., Oka, T., Ouchida, M., Nakatani, Y., Nishiuchi, R., Yoshino, T., Hayashi, K., Akagi, T., & Seino, Y. (2003) · Laboratory Investigation · doi:10.1097/01.lab.0000106503.65258.2b · Cited by 70
“…inactivation affects virtually all pathways in the cellular network, including DNA repair (hMLH1 [Fleisher et al, 1999; Herman et al, 1998], BRCA1 [Esteller et al, 2000], MGMT [Esteller et al, 1999a]), the cell cycle (p16INK4a [Herman et al, 1995; Merlo et al, 1995], p14ARF [Greger et al, 1989;…”
BackgroundBRCA-Associated Ovarian Cancer: From Molecular Genetics to Risk Management
Girolimetti, G., Perrone, A. M., Santini, D., Barbieri, E., Guerra, F., Ferrari, S., Zamagni, C., Iaco, P. D., Gasparre, G., & Turchetti, D. (2014) · BioMed Research International · doi:10.1155/2014/787143 · Cited by 71
“The silencing of BRCA1 gene trough promoter hypermethylation may occur in sporadic breast and ovarian cancers [27].”
Tapia, T., Smalley, S. V., Kohen, P., Muñoz, A., Solis, L. M., Corvalán, A. H., Faúndez, P., Devoto, L., Mauricio Camus, A., Alvarez, M. G., et al. (2008) · Epigenetics · doi:10.4161/epi.3.3.6387 · Cited by 71
Polyák, K. (2001) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/s0304-419x(01)00029-4 · Cited by 70
Weberpals, J. I., Clark-Knowles, K. V., & Vanderhyden, B. C. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2007.11.3902 · Cited by 71
The complex relationship between BRCA1 and ERα in hereditary breast cancer
Gorski, J. J., Kennedy, R., Hosey, A. M., & Harkin, D. (2009) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0640 · Cited by 61
DNA methylation, epimutations and cancer predisposition
Dobrovic, A., & Kristensen, L. S. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.09.006 · Cited by 69
Treatment options for patients with triple-negative breast cancer
Santana-Dávila, R., & Perez, E. A. (2010) · Journal of Hematology & Oncology · doi:10.1186/1756-8722-3-42 · Cited by 71
“Methylation of the BRCA1 promoter, which leads to a reduced expression of BRCA1, has been reported to be present in 11 to 14% of sporadic breast cancers [37,38], where it is associated with a higher histological grade and a triple-negative phenotype [37-39].”
BackgroundDouglas, D. B., Akiyama, Y., Carraway, H. E., Belinsky, S. A., Esteller, M., Gabrielson, E. W., Weitzman, S. A., Williams, T., Herman, J. G., & Baylin, S. B. (2004) · Cancer Research · doi:10.1158/0008-5472.can-0318-2 · Cited by 69
Self-citationJacot, W., Lopez‐Crapez, E., Mollévi, C., Boissière‐Michot, F., Simony-Lafontaine, J., Ho-Pun-Cheung, A., Chartron, E., Theillet, C. G., Lemoine, A., Saffroy, R., et al. (2020) · Cancers · doi:10.3390/cancers12040828 · Cited by 66
“PCRs were performed on an Eppendorf Mastercycler® (Eppendorf, Hamburg, Germany), with the EpiTect MSP-PCR Kit (QIAGEN GmbH, Hilden, Germany), and specific primers designed for hypermethylated or unmethylated BRCA1 DNA sequences [32].”
BackgroundMethodMaking it or breaking it: DNA methylation and genome integrity
Sriraman, A., Debnath, T. K., Xhemalçe, B., & Miller, K. M. (2020) · Essays in Biochemistry · doi:10.1042/ebc20200009 · Cited by 69
“In the case of BRCA1, methylation of CpG sites close to the transcriptional start site (TSS) is associated with reduced mRNA and protein levels [83].”
BackgroundBRCA1 in the DNA damage response and at telomeres
Rosen, E. M. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00085 · Cited by 68
“…of BRCA1 protein, suggesting that loss of BRCA1 function whether by epigenetic silencing, mutation, or other mechanisms is a common component in the pathogenesis of sporadic breast cancer (Rice et al., 1998; Taylor et al., 1998; Wilson et al., 1999; Esteller et al., 2000; Staff et al., 2003).”
BackgroundMethodInfluentialSuárez-Merino, B., Hubank, M. J. F., Révész, T., Harkness, W. F. J., Hayward, R. D., Thompson, D. N. P., Darling, J. L., Thomas, D. G. T., & Warr, T. J. (2005) · Neuro-Oncology · doi:10.1215/s1152851704000596 · Cited by 68
Bernards, S. S., Pennington, K. P., Harrell, M. I., Agnew, K. J., Garcia, R. L., Norquist, B. M., & Swisher, E. M. (2017) · Gynecologic Oncology · doi:10.1016/j.ygyno.2017.12.004 · Cited by 67
Treatment of Ovarian Cancer Beyond PARP Inhibition: Current and Future Options
Garg, V., & Oza, A. M. (2023) · Drugs · doi:10.1007/s40265-023-01934-0 · Cited by 71
Mutter, R. W., Riaz, N., Ng, C. K. Y., Delsite, R., Piscuoglio, S., Edelweiss, M., Martelotto, L. G., Sakr, R. A., King, T. A., Giri, D. D., et al. (2017) · The Journal of Pathology · doi:10.1002/path.4890 · Cited by 68
Methylation of the ATM promoter in glioma cells alters ionizing radiation sensitivity
Roy, K., Wang, L., Makrigiorgos, G. M., & Price, B. D. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.03.222 · Cited by 66
Parsa, S., Ortega-Molina, A., Ying, H., Jiang, M., Teater, M. R., Wang, J., Zhao, C., Reznik, E., Pasion, J. P., Kuo, D. C., et al. (2020) · Nature Cancer · doi:10.1038/s43018-020-0080-0 · Cited by 66
Genome–epigenome interactions in cancer
Brena, R. M., & Costello, J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm073 · Cited by 67
Yamashita, N., Tokunaga, E., Kitao, H., Hitchins, M. P., Inoue, Y., Tanaka, K., Hisamatsu, Y., Taketani, K., Akiyoshi, S., Okada, S., et al. (2015) · Clinical Breast Cancer · doi:10.1016/j.clbc.2015.06.009 · Cited by 65
Regulation of BRCA1 Transcription by Specific Single-Stranded DNA Binding Factors
Thakur, S., Nakamura, T., Calin, G. A., Russo, A. L., Tamburrino, J. F., Shimizu, M., Baldassarre, G., Battista, S., Fusco, A., Wassell, R. P., et al. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.11.3774-3787.2003 · Cited by 65
High rates of loss of heterozygosity on chromosome 19p13 in human breast cancer
Oesterreich, S., Allredl, D. C., Mohsin, S. K., Zhang, Q., Wong, H., Lee, A. V., Osborne, C. K., & O'Connell, P. (2001) · British Journal of Cancer · doi:10.1054/bjoc.2000.1606 · Cited by 66
Linn, S. C., & Veer, L. V. ‘. (2009) · European Journal of Cancer · doi:10.1016/s0959-8049(09)70012-7 · Cited by 64
High-resolution methylation analysis of the BRCA1 promoter in ovarian tumors
Wilcox, C. B., Baysal, B. E., Gallion, H. H., Strange, M., & DeLoia, J. A. (2005) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2004.12.017 · Cited by 65
“[22]; primer [4], Baldwin et al.”
BackgroundMethodInfluentialThe F-box Protein FBXO44 Mediates BRCA1 Ubiquitination and Degradation
Lu, Y., Li, J., Cheng, D., Parameswaran, B., Zhang, S., Jiang, Z., Yew, P. R., Peng, J., Ye, Q., & Hu, Y. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.407106 · Cited by 67
Comparative epigenomics of human and mouse mammary tumors
Demircan, B., Dyer, L. M., Gerace, M., Lobenhofer, E. K., Robertson, K. D., & Brown, K. D. (2008) · Genes Chromosomes and Cancer · doi:10.1002/gcc.20620 · Cited by 65
“A list of well-characterized TSG including BRCA1, CDKN2A, SFN, CDH1, and CST6 are targets for epigenetic silencing in breast cancer (Dobrovic and Simpfendorfer, 1997; Esteller et al., 2000; Ferguson et al., 2000; Nass et al., 2000; Holst et al., 2003; Ai et al., 2006).”
BackgroundHypermethylation of the GATA gene family in esophageal cancer
Guo, M., House, M. G., Akiyama, Y., Qi, Y., Capagna, D., Harmon, J. W., Baylin, S. B., Brock, M. V., & Herman, J. G. (2006) · International Journal of Cancer · doi:10.1002/ijc.22092 · Cited by 65
“Traditionally, investigations have focused on the disruption of a single gene, either through genetic or epigenetic mechanisms, within an established cell regulatory network.(14,32,33) For example, a genetic mutation of a single gene, p16, is sufficient to disturb the cyclin-D/Rb cell control pathway and initiate neop…”
BackgroundKang, H. J., Kim, H. J., Rih, J.-K., Mattson, T. L., Kim, K. W., Cho, C., Isaacs, J. S., & Bae, I. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m513033200 · Cited by 65
BRCA and Early Events in the Development of Serous Ovarian Cancer
George, S. H. L., & Shaw, P. H. (2014) · Frontiers in Oncology · doi:10.3389/fonc.2014.00005 · Cited by 64
Weren, R. D. A., Mensenkamp, A. R., Simons, M., Eijkelenboom, A., Sie, A. S., Ouchene, H., van Asseldonk, M., Gómez-García, E. B., Blok, M. J., de Hullu, J. A., et al. (2016) · Human Mutation · doi:10.1002/humu.23137 · Cited by 69
Butcher, D. T., Mancini‐DiNardo, D., Archer, T., & Rodenhiser, D. I. (2004) · International Journal of Cancer · doi:10.1002/ijc.20324 · Cited by 66
Dhar, S., Bhargava, R., Yunes, M. J., Li, B., Goyal, J., Naber, S. P., Wazer, D. E., & Band, V. (2001) · PubMed · Cited by 64
Personalizing Therapy for Ovarian Cancer: BRCAness and Beyond
Bast, R. C., & Mills, G. B. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2010.28.5791 · Cited by 62
Epigenetics and environment in breast cancer: New paradigms for anti-cancer therapies
Thakur, C., Qiu, Y., Fu, Y. S., Bi, Z., Zhang, W., Ji, H., & Chen, F. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.971288 · Cited by 74
Stochastic dynamics of cancer initiation
Foo, J., Leder, K., & Michor, F. (2011) · Physical Biology · doi:10.1088/1478-3975/8/1/015002 · Cited by 64
“Similarly, the breast cancer 1, early onset (BRCA1) and serine/threonine kinase 11 (STK11) genes are often epigenetically inactivated in sporadic cases of breast and colon cancer, respectively, while they predispose to these cancer types in carriers of a germ line mutation [18, 19].”
Chowdhury, B., Cho, I., Hahn, N. M., & Irudayaraj, J. (2014) · Analytica Chimica Acta · doi:10.1016/j.aca.2014.09.020 · Cited by 64
“Locus-specific DNA methylation markers such as DNA hypermethylation of Breast cancer type 1 susceptibility (BRCA1) gene in breast and ovarian cancer [13], Death-associated protein kinase (DAPK) gene in bladder cancer [14], O-6-methylguanine-DNA methyltransferase (MGMT) gene in colorectal and lung cancers [15, 16] have…”
BackgroundDifferential Chemotherapeutic Sensitivity for Breast Tumors With “BRCAness”: A Review
Chalasani, P., & Livingston, R. B. (2013) · The Oncologist · doi:10.1634/theoncologist.2013-0039 · Cited by 66
BRCA Gene Structure and Function in Tumor Suppression
Murphy, C. G., & Moynahan, M. E. (2010) · The Cancer Journal · doi:10.1097/ppo.0b013e3181cf0204 · Cited by 63
Singh, K. P., Treas, J. N., Tyagi, T., & Gao, W. (2011) · Cancer Letters · doi:10.1016/j.canlet.2011.10.022 · Cited by 62
“For example, promoter hypermethylation causing loss of expression of VHL in renal cell carcinoma [17], and BRCA1 in sporadic breast and ovarian tumors [18] has been reported.”
BackgroundDo platinum salts fit all triple negative breast cancers?
Gerratana, L., Fanotto, V., Pelizzari, G., Agostinetto, E., & Puglisi, F. (2016) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2016.06.004 · Cited by 67
Hereditary breast cancer: From molecular pathology to tailored therapies
Tan, D. S. P., Marchiò, C., & Reis-Filho, J. S. (2008) · Journal of Clinical Pathology · doi:10.1136/jcp.2008.057950 · Cited by 60
Wu, Y., Xu, S., Cheng, S., Yang, J., & Wang, Y. (2023) · Journal of Ovarian Research · doi:10.1186/s13048-023-01094-5 · Cited by 60
Methylation not a frequent “second hit” in tumors with germline BRCA mutations
Dworkin, A. M., Spearman, A. D., Tseng, S. Y., Sweet, K. M., & Toland, A. E. (2009) · Familial Cancer · doi:10.1007/s10689-009-9240-1 · Cited by 63
“previously described methylation specific primers for BRCA1 regions [11, 27, 28] and primers overlapping reported CpG islands described for BRCA2 [10].”
BackgroundTwo-hit inactivation of FHIT by loss of heterozygosity and hypermethylation in breast cancer.
Yang, Q., Nakamura, M., Nakamura, Y., Yoshimura, G., Suzuma, T., Umemura, T., Shimizu, Y., Mori, I., Sakurai, T., & Kakudo, K. (2002) · PubMed · Cited by 61
Epigenetic Regulation and Measurement of Epigenetic Changes
Stephens, K., Miaskowski, C. A., Levine, J. D., Pullinger, C. R., & Aouizerat, B. E. (2012) · Biological Research For Nursing · doi:10.1177/1099800412444785 · Cited by 66
“An increase of DNA methylation of the CpG island located in the promoter region of BRCA1 prevents expression of BRCA1 (Esteller et al., 2000).”
BackgroundYi, Y. W., Kang, H. J., & Bae, I. (2014) · Cancers · doi:10.3390/cancers6020771 · Cited by 65
“Decrease or absence of the BRCA1 protein in sporadic breast and ovarian cancers suggests that BRCA1 functions as a tumor suppressor in nonhereditary tumors as well [40,41].”
BackgroundBosviel, R., Garcia, S., Lavediaux, G., Michard, E., Dravers, M., Kwiatkowski, F., Bignon, Y., & Bernard-Gallon, D. J. (2012) · Cancer Epidemiology · doi:10.1016/j.canep.2012.02.001 · Cited by 63
“001 BRCA1 and BRCA2 genes are rare, several lines of evidence implicate reduced BRCA1 gene expression in sporadic tumors [3,4].”
BackgroundRomagnolo, D. F., Donovan, M. G., Papoutsis, A. J., Doetschman, T. C., & Selmin, O. I. (2017) · Current Developments in Nutrition · doi:10.3945/cdn.117.000562 · Cited by 62
“pression (10) and overexpressing AhR (22).”
BackgroundCai, L., Abe, M., Izumi, S., Imura, M., Yasugi, T., & Ushijima, T. (2007) · Life Sciences · doi:10.1016/j.lfs.2007.01.015 · Cited by 60
The Potential of PARP Inhibitors in Genetic Breast and Ovarian Cancers
Drew, Y., & Calvert, H. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1414.020 · Cited by 60
Features and Trend of Loss of Promoter-Associated CpG Islands in the Human and Mouse Genomes
Jiang, C., Han, L., Su, B., Li, W., & Zhao, Z. (2007) · Molecular Biology and Evolution · doi:10.1093/molbev/msm128 · Cited by 60
The BRCA1/BRCA2/Rad51 complex is a prognostic and predictive factor in early breast cancer
Söderlund, K., Skoog, L. K., Fornander, T., & Stenmark‐Askmalm, M. (2007) · Radiotherapy and Oncology · doi:10.1016/j.radonc.2007.06.012 · Cited by 60
“Despite this, BRCA1 expression is often aberrant in sporadic breast cancer, due to loss of heterozygosity (LOH), methylation of the BRCA1 promoter region and reduced mRNA and protein expression [21–23].”
BackgroundYucer, N., Ahdoot, R., Workman, M. J., Laperle, A., Recouvreux, M. S., Kurowski, K., Naboulsi, D. J., Liang, V., Qu, Y., Plummer, J., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110146 · Cited by 58
“…show a loss of the wild-type allele in the development of primary cancers, suggesting that the reduction to homozygosity and loss of function are prerequisites of cancer development (Cancer Genome Atlas Research Network, 2011; Esteller et al., 2000; Futreal et al., 1994; Russell et al., 2000).”
Hsu, N. C.-H., Huang, Y., Yokoyama, K. K., Chu, P., Chen, F., & Hou, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056256 · Cited by 59
“Primers and conditions used for the methylation-specific PCR were first developed by Esteller et al [19].”
MethodThe prognostic value of BRCA1 promoter methylation in early stage triple negative breast cancer
Sharma, P., Stecklein, S. R., Kimler, B. F., Sethi, G., Petroff, B. K., Phillips, T. A., Tawfik, O. W., Godwin, A. K., & Jensen, R. A. (2014) · journal of cancer therapeutics and research · doi:10.7243/2049-7962-3-2 · Cited by 58
“Methylation specific PCR (MSPCR) has been utilized to detect hypermethylation of the areas of interest in the CpG islands of the BRCA1 promoter by many investigators [10,11,14].”
BackgroundMethodMolecular Trajectory of BRCA1 and BRCA2 Mutations
Hatano, Y., Tamada, M., Matsuo, M., & Hara, A. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.00361 · Cited by 58
“Consistent with the promoter hypermethylation, BRCA1 is silenced in sporadic breast and ovarian cancer (43, 44).”
BackgroundDNA methylation of channel-related genes in cancers
Ouadid‐Ahidouch, H., Rodat‐Despoix, L., Matifat, F., Morin, G., & Ahidouch, A. (2015) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2015.02.015 · Cited by 57
Kang, H. J., Kim, H. J., Kim, S. K., Barouki, R., Cho, C., Khanna, K. K., Rosen, E. M., & Bae, I. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m601613200 · Cited by 57
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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