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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Altered expression of DNA double‐strand break detection and repair proteins in breast carcinomas
Angèle, S., Treilleux, I., Bremond, A. G., Tanière, P., & Hall, J. A. (2003) · Histopathology · doi:10.1046/j.1365-2559.2003.01713.x · Cited by 57
“Modifications in the methylation pattern of the gene promoters could also influence the level of expression of the proteins studied, as has been shown for the BRCA1 gene.(4) The five proteins analysed here in sporadic breast carcinomas participate in signalling cascades activated in response to DNA damage.”
Leibowitz, B. D., Dougherty, B. V., Bell, J. S. K., Kapilivsky, J., Michuda, J., Sedgewick, A. J., Munson, W., Chandra, T. A., Dry, J. R., Beaubier, N. T., et al. (2022) · BMC Cancer · doi:10.1186/s12885-022-09669-z · Cited by 58
“Alternative approaches to detect HRD include measurement of epigenetic silencing of BRCA1/2 (17–19) and/or epigenetic or genetic loss of other gene members of the HRR pathway (5,20,21).”
Tyagi, T., Treas, J. N., Mahalingaiah, P. K. S., & Singh, K. P. (2015) · Breast Cancer Research and Treatment · doi:10.1007/s10549-015-3295-5 · Cited by 56
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“In breast cancer, promoter hypermethylation has been reported for several genes, covering most aspects of cellular function [5–15].”
BackgroundResultBRCA1 negatively regulates IGF-1 expression through an estrogen-responsive element-like site
Kang, H. J., Yi, Y. W., Kim, H. J., Hong, Y. B., Seong, Y., & Bae, I. (2012) · Cell Death and Disease · doi:10.1038/cddis.2012.78 · Cited by 57
“It is noteworthy that levels of BRCA1 are reduced in sporadic breast cancers without BRCA1 mutations.(12,13) Although most of the established human breast cancer cell lines carrying BRCA1 mutations are ERa-negative, three-dimensionally cultured primary mammary epithelial cells from BRCA1 mutation carriers have heterog…”
BackgroundJacot, W., Thézenas, S., Senal, R., Viglianti, C., Laberenne, A.-C., Lopez‐Crapez, E., Bibeau, F., Bleuse, J., Romieu, G., & Lamy, P. (2013) · BMC Cancer · doi:10.1186/1471-2407-13-523 · Cited by 57
“PCRs were performed on an Eppendorf Mastercycler® apparatus (Eppendorf, Hamburg, Germany) with the EpiTect MSP-PCR Kit (QIAGEN GmbH, Hilden, Germany) and specific primers designed for methylated or unmethylated BRCA1 DNA sequences [40].”
MethodCracking the homologous recombination deficiency code: how to identify responders to PARP inhibitors
Paulet, L., Trécourt, A., Leary, A. F., Péron, J., Descôtes, F., Devouassoux‐Shisheboran, M., Leroy, K., You, B., & Lopez, J. (2022) · European Journal of Cancer · doi:10.1016/j.ejca.2022.01.037 · Cited by 57
BRCA1 and p53: compensatory roles in DNA repair
Hartman, A., & Ford, J. M. (2003) · Journal of Molecular Medicine · doi:10.1007/s00109-003-0477-0 · Cited by 62
“Mutations in BRCA1 are uncommon in sporadic breast cancers; however, recent studies have suggested that up to 30% of sporadic breast cancers exhibit decreased BRCA1 expression due to promoter hypermethylation [7, 8, 9, 10].”
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Challenges and Opportunities in Developing Targeted Therapies for Triple Negative Breast Cancer
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“We determined the p16 methylation status using methylation specific PCR as previously described (Figure 1).(17,35,36)”
MethodZhang, J. (2013) · Cell & Bioscience · doi:10.1186/2045-3701-3-11 · Cited by 58
“BRCA1 function may also be lost in a substantial number of sporadic breast cancers [49-52].”
BackgroundTargeting DNA repair in breast cancer: A clinical and translational update
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Progression-Free Survival in Ovarian Cancer Is Reflected in Epigenetic DNA Methylation Profiles
Bauerschlag, D., Ammerpohl, O., Bräutigam, K., Schem, C., Lin, Q., Weigel, M. T., Hilpert, F., Arnold, N., Maass, N., Meinhold-Heerlein, I. M., et al. (2011) · Oncology · doi:10.1159/000327746 · Cited by 52
Epimutation and cancer: A new carcinogenic mechanism of Lynch syndrome
Banno, K., Kisu, I., Yanokura, M., Tsuji, K., Masuda, K., Ueki, A., Kobayashi, Y., Yamagami, W., Nomura, H., Tominaga, E., et al. (2012) · International Journal of Oncology · doi:10.3892/ijo.2012.1528 · Cited by 54
“Catteau and Morris showed that sporadic tumors with BRCA1 methylation had pathological characteristics similar to those of hereditary breast cancer (35) and Hedenfalk et al found that the phenotypes of the cancers were similar to each other (34).”
BackgroundYang, X., You, P., Qiu, Z., Du, Z., Zhang, Y., Fa, P., Gorityala, S., Ma, S., Li, S., Chen, C., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-2242 · Cited by 52
“However, coexpression of these two proteins may not be seen in tumor tissues or cancer cell lines, as it is wellknown that the BRCA1 promoter is frequently methylated, leading to low expression (46, 47).”
BackgroundMijnes, J., Veeck, J., Gaisa, N. T., Burghardt, E., de Ruijter, T. C., Gostek, S., Dahl, E., Pfister, D. J. K. P., Schmid, S. C., Knüchel, R., et al. (2018) · Clinical Epigenetics · doi:10.1186/s13148-018-0447-6 · Cited by 49
Bauer, C., Diesinger, I., Brass, N., Steinhart, H., Iro, H., & Meese, E. U. (2001) · Cancer · doi:10.1002/1097-0142(20010815)92:4 · Cited by 70
Gene expression in inherited breast cancer
Hedenfalk, I. A., Ringnér, M., Trent, J. M., & Borg, Å. (2002) · Advances in cancer research · doi:10.1016/s0065-230x(02)84001-5 · Cited by 51
Sharma, G., Mirza, S., Parshad, R., Gupta, S. D., & Ralhan, R. (2012) · Tumor Biology · doi:10.1007/s13277-012-0443-y · Cited by 53
CpG Island Tumor Suppressor Promoter Methylation in Non-BRCA-Associated Early Mammary Carcinogenesis
Vasilatos, S. N., Broadwater, G., Barry, W. T., Baker, J. C., Lem, S., Dietze, E. C., Bean, G. R., Bryson, A. D., Pilie, P. G., Goldenberg, V. K., et al. (2009) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-08-0875 · Cited by 51
“9) Aromatase inhibitor 0 (0) Family history of breast cancer, n (%) 52 (48) Prior abnormal biopsies, n (%) Atypical ductal hyperplasia 13 (12) LCIS 4 (4) DCIS 9 (8) History of contralateral breast cancer 16 (15) Tested for BRCA1/2 mutation, n (%) 40 (37) Tested positive 15 (14) BRCA1 mutation 13 (12) BRCA2 mutation 2…”
BackgroundTsezou (2009) · Oncology Reports · doi:10.3892/or_00000425 · Cited by 51
Galetzka, D., Hansmann, T., Hajj, N. E., Weis, E., Irmscher, B., Ludwig, M., Schneider-Rätzke, B., Kohlschmidt, N., Beyer, V., Bartsch, O., et al. (2012) · Epigenetics · doi:10.4161/epi.7.1.18814 · Cited by 53
“display similar pathological features as hereditary tumors with BRCA1 mutations.(8) The concordance rates in monozygotic (MZ) and dizygotic pairs of twins allow one to estimate the heritability of complex phenotypic traits.”
BackgroundPARP inhibitors in breast cancer: BRCA and beyond.
Rios, J. A., & Puhalla, S. (2011) · PubMed · Cited by 50
Tumor microenvironment and breast cancer progression
Artacho-Cordón, A., Artacho‐Cordón, F., Ríos‐Arrabal, S., Calvente, I., & Núñez, M. I. (2012) · Cancer Biology & Therapy · doi:10.4161/cbt.13.1.18869 · Cited by 53
“In breast cancer, numerous genes that are unmethylated in non-malignant tissue become aberrantly methylated in the tumor, including the tumor suppressor gene BRCA1.”
BackgroundSystems biology approach to stage-wise characterization of epigenetic genes in lung adenocarcinoma
Pradhan, M. P., Desai, A., & Palakal, M. J. (2013) · BMC Systems Biology · doi:10.1186/1752-0509-7-141 · Cited by 51
“Specific examples of DNA methylation role in cancers include hypermethylation of BRCA1 in breast and ovarian cancer [22,23]; DOK7 in breast cancer [22]; MYOD1 in hematological neoplasm; APC, HOX2, OTX1 genes in non-small cell lung carcinoma (NSCLC) [24]; FEN1 in breast tumor cells [25]; and hypomethylation of TKTL1 in…”
BackgroundHonrado, E., Osório, A., Milne, R. L., Paz, M. F., Melchor, L., Cascón, A., Urioste, M., Cazorla, A., Dı́ez, O., Lerma, E., et al. (2007) · Modern Pathology · doi:10.1038/modpathol.3800969 · Cited by 52
“Somatic Inactivation of the BRCA1 Gene We found that 42p of the non- BRCA1s2 tumors presented promoter hypermethylation of the BRCA1 gene, a percentage that is higher than in sporadic cases, where it ranges between 11 and 30p”
BackgroundSelf-citationBRCA 1/2-Mutation Related and Sporadic Breast and Ovarian Cancers: More Alike than Different
Burgess, M. A., & Puhalla, S. (2014) · Frontiers in Oncology · doi:10.3389/fonc.2014.00019 · Cited by 54
Miyamoto, K. (2002) · Japanese Journal of Clinical Oncology · doi:10.1093/jjco/hyf020 · Cited by 51
“Hypermethylation of the promoter has been observed in 0–33% of sporadic breast cancers by Southern blot analysis using a methylationsensitive restriction enzyme (20,21) or by sequencing after bisulfite modification (22,23).”
BackgroundUse of DNA methylation profiling in translational oncology
Ortiz-Barahona, V., Joshi, R. S., & Esteller, M. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2020.12.011 · Cited by 47
Self-citationPoly (ADP-ribose) polymerase inhibitors
Ratner, E., Sartorelli, A. C., & Lin, Z. P. (2012) · Current Opinion in Oncology · doi:10.1097/cco.0b013e3283564230 · Cited by 49
Epigenetic progression of columnar cell lesions of the breast to invasive breast cancer
Verschuur‐Maes, A. H. J., de Bruin, P. C., & van Diest, P. J. (2012) · Breast Cancer Research and Treatment · doi:10.1007/s10549-012-2301-4 · Cited by 49
Gupta, S., Jaworska–Bieniek, K., Narod, S. A., Lubiński, J., Wojdacz, T. K., & Jakubowska, A. (2014) · Breast Cancer Research and Treatment · doi:10.1007/s10549-014-3179-0 · Cited by 50
CpG island methylator phenotype of multigene in serum of sporadic breast carcinoma
Feng, J., Wang, Y., Yong, C., Luo, J., Lu, J., Tang, X., & Hu, L. (2010) · Tumor Biology · doi:10.1007/s13277-010-0040-x · Cited by 49
Marchi, T. D., Timmermans, M. A. M., Sieuwerts, A. M., Smid, M., Look, M. P., Grebenchtchikov, N. I., Sweep, F. C. G. J., Smits, J. G., Magdolen, V., van Deurzen, C. H. M., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-02296-w · Cited by 51
Epigenetic Regulation of Cancer Stem Cells by the Aryl Hydrocarbon Receptor Pathway
Akhtar, S., Hourani, S., Therachiyil, L., Al‐Dhfyan, A., Agouni, A., Zeidan, A., Shahab Uddin, M. S., & Korashy, H. M. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2020.08.014 · Cited by 49
Cells, Stem Cells, and Cancer Stem Cells
Aguilar-Gallardo, C., & Simón, C. (2013) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1331792 · Cited by 48
Kawazu, M., Kojima, S., Ueno, T., Totoki, Y., Nakamura, H. K., Kunita, A., Qü, W., Yoshimura, J., Soda, M., Yasuda, T., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006853 · Cited by 48
Imura, M., Yamashita, S., Cai, L., Furuta, J., Wakabayashi, M., Yasugi, T., & Ushijima, T. (2005) · Cancer Letters · doi:10.1016/j.canlet.2005.10.010 · Cited by 48
Fearon, E. R. (2000) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/92.7.515 · Cited by 46
“Esteller et al. ( 4 ) have extended studies of BRCA1 promoter methylation in breast and ovarian cancers.”
BackgroundInfluentialTao, M. H., Shields, P. G., Nie, J., Millen, A. E., Ambrosone, C. B., Edge, S. B., Krishnan, S. S., Marian, C., Xie, B., Winston, J. S., et al. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-0028-z · Cited by 47
“For breast tumors, there is evidence of hypermethylation of functionally important genes including those involved in DNA repair (BRCA1) [4], cell cycle regulation (p16) [3], cell adhesion (E-cadherin) [5], hormone and receptor-mediated cell signaling (ER (estrogen receptor) and RAR-b2 (retinoic acidbinding receptor-b2…”
Murata, S., Zhang, C., Finch, N., Zhang, K., Campo, L., & Breuer, E.-K. Y. (2016) · BioMed Research International · doi:10.1155/2016/2346585 · Cited by 47
“It is accepted that PARP inhibition mediates synthetic lethality in tumors with inherited BRCA deficiencies [117] and that BRCA1 hypermethylation can predict sensitivity to PARP inhibition [118–121].”
BackgroundClinical Relevance of BRCA1 Promoter Methylation Testing in Patients with Ovarian Cancer
Blanc‐Durand, F., Tang, R., Pommier, M., Nashvi, M., Cotteret, S., Genestie, C., Formal, A. L., Pautier, P., Michels, J., Kfoury, M., et al. (2023) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-22-3328 · Cited by 46
CpG island methylation affects accessibility of the proximal BRCA1 promoter to transcription factors
Xu, J., Huo, D., Chen, Y., Nwachukwu, C., Collins, C., Rowell, J., Slamon, D. J., & Olopade, O. I. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0422-1 · Cited by 47
“cDNA primers for BRCA1 were used as described [3].”
MethodTargeting epigenetic machinery: Emerging novel allosteric inhibitors
Ye, F., Huang, J. L., Wang, H., Luo, C., & Zhao, K. (2019) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2019.107406 · Cited by 47
DNA hypermethylation, Her-2/neu overexpression and p53 mutations in ovarian carcinoma
Feng, Q., Deftereos, G., Hawes, S. E., Stern, J., Willner, J. B., Swisher, E. M., Xi, L., Drescher, C. W., Urban, N. D., & Kiviat, N. (2008) · Gynecologic Oncology · doi:10.1016/j.ygyno.2008.07.036 · Cited by 47
“non-cancerous tissue obtained from women with OC [5,15,39, 42–44].”
Virmani, A. K., Rathi, A., Heda, S., Sugio, K., Lewis, C. M., Tonk, V. S., Takahashi, T., Roth, J. A., Minna, J. D., Euhus, D., et al. (2003) · International Journal of Cancer · doi:10.1002/ijc.11393 · Cited by 46
Vila, M. M., Cirauqui, B., Castellà, E., Tapia, G., Costa, C., Giménez-Capitán, A. A., Barnadas, A., Ronco, M. S., Benlloch, S., Tarón, M., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009499 · Cited by 44
“This reduction of BRCA1 mRNA levels in sporadic breast cancer cases has been related to acquired methylation of the BRCA1 promoter [24] and to abnormalities in the upstream pathways that regulate BRCA1 expression[25].”
BackgroundRetinoic Acid Receptor-β2 Promoter Methylation in Random Periareolar Fine Needle Aspiration
Bean, G. R., Scott, V. M., Yee, L., Ratliff, B. E., Troch, M. M., Seo, P. H., Bowie, M. L., Marcom, P. K., Slade, J., Kimler, B. F., et al. (2005) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-04-0580 · Cited by 46
“For example, BRCA1 promoter hypermethylation has been observed in breast and ovarian cancer (16, 21).”
BackgroundYi, Y. W., Kang, H. J., Kim, H. J., Hwang, J. S., Wang, A., & Bae, I. (2012) · Molecular Carcinogenesis · doi:10.1002/mc.21905 · Cited by 46
“In addition, because expression of the BRCA1 protein is often decreased or even absent in sporadic breast and ovarian cancers, deregulation of BRCA1 expression may also have role(s) in nonhereditary tumors [3,4].”
Epigenomics and Ovarian Carcinoma
Maldonado, L., & Hoque, M. O. (2010) · Biomarkers in Medicine · doi:10.2217/bmm.10.72 · Cited by 45
The molecular significance of methylated BRCA1 promoter in white blood cells of cancer-free females
Al‐Moghrabi, N., Nofel, A., Al‐Yousef, N., Madkhali, S., Amer, S. M. B., Alaiya, A. A., Shinwari, Z., Al‐Tweigeri, T., Karakas, B., Tulbah, A. M., et al. (2014) · BMC Cancer · doi:10.1186/1471-2407-14-830 · Cited by 46
“Indeed, the functional equivalence between the effect and significance of the epigenetic silencing of BRCA1 and the inheritance of BRCA1 mutations [15-17], has supported the notion that BRCA1 promoter methylation may serve as a first hit, much like an inherited germline mutation.”
BackgroundGrowth Factor Signaling Pathways Modulate BRCA1 Repression of Estrogen Receptor-α Activity
Ma, Y., Hu, C., Riegel, A. T., Fan, S., & Rosen, E. M. (2007) · Molecular Endocrinology · doi:10.1210/me.2006-0397 · Cited by 45
Evidence for a role of the Simian Virus 40 in human breast carcinomas
Hachana, M., Trimèche, M., Ziadi, S., Amara, K., & Korbi, S. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-9901-z · Cited by 45
Kawaguchi, A., Iwadate, Y., Komohara, Y., Sano, M., Kajiwara, K., Yajima, N., Tsuchiya, N., Homma, J., Aoki, H., Kobayashi, T., et al. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-12-0596 · Cited by 44
The role of the breast cancer susceptibility gene 1 (BRCA1) in sporadic epithelial ovarian cancer
McCoy, M. L., Mueller, C. R., & Roskelley, C. D. (2003) · Reproductive Biology and Endocrinology · doi:10.1186/1477-7827-1-72 · Cited by 44
“For example, loss of heterozygosity (LOH) at the BRCA1 locus occurs in a significant proportion of sporadic of ovarian tumors [19,34].”
BackgroundSalem, A. F., Howell, A., Sartini, M., Sotgia, F., & Lisanti, M. P. (2012) · Cell Cycle · doi:10.4161/cc.22316 · Cited by 44
“” Breast cancer type 1 susceptibility protein (BRCA1) is a tumor suppressor that is mutated in 45% of hereditary breast cancers and downregulated in sporadic breast cancers.(15-17) Approximately, 85–90% of hereditary BRCA1 mutation carriers develop breast cancer.”
BackgroundVos, S., van Diest, P. J., & Moelans, C. B. (2018) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2018.05.008 · Cited by 42
Meisel, J. L., Hyman, D. M., Garg, K., Zhou, Q. C., Dao, F., Bisogna, M., Gao, J., Schultz, N. D., Grisham, R. N., Phillips, M., et al. (2014) · Annals of Oncology · doi:10.1093/annonc/mdu461 · Cited by 44
“A CLIA-approved pyrosequencing assay was used for the simultaneous analysis and quantification of the degree of methylation at 11 CpG sites in the established promoter region of BRCA1 [12].”
Schouten, P. C., Grigoriadis, A. E., Kuilman, T., Mirza, H., Watkins, J. A., Cooke, S. A., van Dyk, E., Severson, T., Rueda, O. M., Hoogstraat, M., et al. (2015) · Molecular Oncology · doi:10.1016/j.molonc.2015.03.002 · Cited by 43
The Epigenomic Revolution in Breast Cancer
Dávalos, V., Martínez‐Cardús, A., & Esteller, M. (2017) · American Journal Of Pathology · doi:10.1016/j.ajpath.2017.07.002 · Cited by 46
Self-citationO’Neill, K., Pleasance, E., Fan, J., Akbari, V., Chang, G., Dixon, K., Csizmók, V., MacLennan, S., Porter, V., Galbraith, A., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100674 · Cited by 47
“55,56 In this cohort, we identified promoter hypermethylation of BRCA1 and RAD51C in a further three cases each (Table 2).”
Hereditary breast cancer: beyond BRCA genetic analysis; PALB2 emerges
Πουμπουρίδου, Ν., & Κroupis, C. (2012) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2011-0840 · Cited by 43
“Finally, if everything else was negative, epigenetic study of the tumor DNA might help signifi cantly as an adjunct tool in the selection of targeted therapy, as CpG island promoter methylation is a frequent event in the BRCA1 gene (122) and at a lower percentage (about 8 % of tumors) in few studies that examined PALB…”
BackgroundGalangin-induced down-regulation of BACE1 by epigenetic mechanisms in SH-SY5Y cells
Zeng, H., Huang, P., Wang, X., Wu, J., Wu, M., & Huang, J. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2015.02.054 · Cited by 43
“Numerous studies reported epigenetic alterations are responsible for gene dysregulation in several human disorders (Esteller et al., 2000; Nguyen et al., 2001; Schoofs and Muller-Tidow, 2011).”
Sun, M.-Y., Yang, X., Xu, W.-W., Yao, G.-Y., Pan, H.-Z., & Li, M. (2012) · Genetics and Molecular Research · doi:10.4238/2012.september.26.1 · Cited by 42
Chaudhry, P., Srinivasan, R., & Patel, F. D. (2009) · Cancer Investigation · doi:10.1080/07357900902849699 · Cited by 43
“Methylation of the promoter of BRCA1 could also result in low mRNA levels (39, 40) and it is likely that methylationbased gene silencing could underlie differences in response to chemotherapy in ovarian cancer, as has been observed in glioma (41).”
ResultRomagnolo, D. F., Papoutsis, A. J., Laukaitis, C. M., & Selmin, O. I. (2015) · BMC Cancer · doi:10.1186/s12885-015-2044-9 · Cited by 43
“In AhR-activated human breast cancer cells, the pattern of BRCA-1 promoter CpG methylation [44] coincided with the one detected in human sporadic breast tumors [45, 46].”
BackgroundCosta, R. L. B., Carneiro, B. A., Wainwright, D. A., Santa-Maria, C. A., Kumthekar, P., Chae, Y. K., Gradishar, W. J., Cristofanilli, M., & Giles, F. J. (2016) · Annals of Oncology · doi:10.1093/annonc/mdw532 · Cited by 42
Technical advances in global DNA methylation analysis in human cancers
Chowdhury, B., Cho, I., & Irudayaraj, J. (2017) · Journal of Biological Engineering · doi:10.1186/s13036-017-0052-9 · Cited by 42
Methylated DNA as a possible screening marker for neoplastic disease in several body fluids
Müller, H. M., & Widschwendter, M. (2003) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.3.4.443 · Cited by 42
Epigenetics and Cancer: A Comprehensive Review
Pathak, A., Tomar, S., & Pathak, S. (2023) · Asian Pacific Journal of Cancer Biology · doi:10.31557/apjcb.2023.8.1.75-89 · Cited by 41
“Instances include the BRCA1 gene in breast carcinoma, in which healthy tissue’s CpG islands was found to be unmethylated in every case, but methylation being present in 13% of the cases [94]; in case of Glutathione S-transferase P (GSTP1) in prostate cancers [95], healthy CpG islands were found to be entirely unmethyl…”
BackgroundWen, Y. H., Ho, A. Y., Patil, S. N., Akram, M. M., Catalano, J., Eaton, A. A., Norton, L., Benezra, R., & Brogi, E. (2012) · Breast Cancer Research and Treatment · doi:10.1007/s10549-012-2070-0 · Cited by 41
“Silencing of the BRCA1 gene by promoter methylation has been reported in some non-familial medullary carcinoma and metaplastic carcinomas [12, 16].”
BackgroundMissaoui, N., Hmissa, S., Trabelsi, A., Traore, C. O., Mokni, M., Dante, R., & Frappart, L. (2010) · Pathology - Research and Practice · doi:10.1016/j.prp.2010.11.001 · Cited by 41
Willems, A. J., Dawson, S., Samaratunga, H., Luca, A. D., Antill, Y. C., Hopper, J. L., Thorne, H., & and kConFab Investigators (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-07-5237 · Cited by 41
Bal, A., Verma, S., Joshi, K., Singla, A., Thakur, R., Arora, S. K., & Singh, G. (2012) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-012-1286-z · Cited by 41
“In breast cancer, more than 40 genes have been shown to be inactivated by methylation, including those involved in DNA repair, cell cycle regulation, tumour suppression, cell adhesion and cell signalling [27–29].”
Dumitrescu, R., Marian, C., Krishnan, S. S., Spear, S. L., Kallakury, B., Perry, D. J., Convit, J., Seillier‐Moiseiwitsch, F., Yang, Y., Freudenheim, J. L., et al. (2009) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2009.00924.x · Cited by 41
“BRCA1 promoter hypermethylation, which occurs in 13% of sporadic breast cancers [10], has also been observed in periareolar cytologic samples (5–22%) from women at high risk of developing breast cancer [11].”
BackgroundBarrio‐Real, L., Benedetti, L. G., Engel, N., Tu, Y., Cho, S., Sukumar, S. V., & Kazanietz, M. G. (2014) · Breast Cancer Research · doi:10.1186/s13058-014-0441-7 · Cited by 41
“For example, epigenetic silencing by methylation of PTEN and BRCA1 genes is a hallmark of breast cancer [50,51].”
BackgroundChemopreventive Effects of ROS Targeting in a Murine Model of BRCA1-Deficient Breast Cancer
Li, M., Chen, Q., & Yu, X. (2016) · Cancer Research · doi:10.1158/0008-5472.can-16-2350 · Cited by 41
“Also, loss of the BRCA1 gene expression by promoter hypermethylation contributes to sporadic breast and ovarian cancers (3), suggesting that BRCA1 plays an important role in breast and ovarian tumor suppression.”
Frequent loss of heterozygosity at the interferon regulatory factor-1 gene locus in breast cancer
Cavalli, L. R., Riggins, R. B., Wang, A., Clarke, R. C., & Haddad, B. R. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0509-8 · Cited by 41
“For instance, while loss of BRCA1 function in inherited breast cancers is usually a consequence of gene mutation(s), loss of BRCA1 expression in sporadic breast cancers is often the result of loss of heterozygosity (LOH) accompanied by hypermethylation of a CpG island in the 50 region close to the transcription start…”
The Contribution of Genetic and Epigenetic Changes in Granulosa Cell Tumors of Ovarian Origin
Dhillon, V. S., Aslam, M., & Husain, S. A. (2004) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-04-0228 · Cited by 40
“In samples from GCTs, the methylation frequency of the target genes was 40% for p16 and ER- ; 36% for BRCA1 and RASSF1A; 28% for hMLH1; 24% for TIMP3, Twist, and GSTP1; and 20% in TMS1 and AR. Normal ovarian tissue could not be obtained to determine whether any of the loci exhibited methylation in nonneoplastic cells.”
MethodInfluentialMolecular alterations in sporadic breast cancer
Lerebours, F., & Lidereau, R. (2002) · Critical Reviews in Oncology/Hematology · doi:10.1016/s1040-8428(01)00191-3 · Cited by 41
“1 [71,72] TP53 [111,112] 17q [113–118] BRCA1, NME1 [72,73] 17q12–q21 Deletion 32 17q22–q24 17q25–qter 17q11–q12 23 Amplification 17q23–24 [8,13] ERBB2, TBX2 [119–121] [122,123] DCC, maspin [74,75] 18q21.”
BackgroundAuley, M. T. M., Mooney, K. M., & Salcedo-Sora, J. E. (2016) · Briefings in Bioinformatics · doi:10.1093/bib/bbw116 · Cited by 39
Roig, B., Rodríguez-Balada, M., Samino, S., Lam, E. W. ‐., Guaita‐Esteruelas, S., Gomes, A., Correig, X., Borràs, J., Yanes, Ó., & Gumà, J. (2017) · Scientific Reports · doi:10.1038/s41598-017-17897-8 · Cited by 42
Paydar, P., Asadikaram, G., Nejad, H. Z., Akbari, H., Abolhassani, M., Moazed, V., Nematollahi, M. H., Ebrahimi, G., & Fallah, H. (2019) · Journal of Cellular Biochemistry · doi:10.1002/jcb.28645 · Cited by 40
“been reported in the sporadic breast cancer and some of sporadic ovarian cancer.(29) Despite the absence of mutations, inactivation of BRCA‐1 gene was observed in a subset of sporadic breast cancer and this silencing predominantly is attributed to hypermethylation of the promoter region.”
BackgroundGou, R., Dong, H., & Lin, B. (2020) · Life Sciences · doi:10.1016/j.lfs.2020.118434 · Cited by 42
Epigenetic gene deregulation in cancer
Malik, K. T. A., & Brown, K. W. (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1549 · Cited by 40
“…malignancies Batova et al, 1997 Rb Cell cycle regulator Retinoblastoma Ohtani-Fujita et al, 1997 BRCA1 Transcriptional regulator Breast and ovarian Estellar et al, 2000 E-cadherin (CDH1) Cell adhesion molecule Gastric, breast and prostate Grady et al, 2000 TIMP-3 Matrix metalloproteinase…”
BackgroundEpigenetics: The Role of Methylation in the Mechanism of Action of Tumor Suppressor Genes
JAIN, P. K. (2003) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2003.tb05963.x · Cited by 41
Ibragimova, I., & Cairns, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-270-0_17 · Cited by 39
Opportunities and hurdles in the treatment of BRCA1-related breast cancer
Drost, R., & Jonkers, J. (2013) · Oncogene · doi:10.1038/onc.2013.329 · Cited by 44
Spitzwieser, M., Entfellner, E., Werner, B., Pulverer, W., Pfeiler, G., Hacker, S., & Cichna‐Markl, M. (2017) · BMC Cancer · doi:10.1186/s12885-017-3244-2 · Cited by 39
“Reported frequencies of BRCA1 promoter methylation are quite different, ranging from about 9-15% [50, 51] to 59% [53].”
BackgroundShikonin Inhibites Migration and Invasion of Thyroid Cancer Cells by Downregulating DNMT1
Zhang, Y., Sun, B., Huang, Z. L., Zhao, D., & Zeng, Q. (2018) · Medical Science Monitor · doi:10.12659/msm.908381 · Cited by 41
Chartron, E., Theillet, C. G., Guiu, S., & Jacot, W. (2018) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2018.10.012 · Cited by 40
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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