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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BackgroundNovel histone modifications and liver cancer: emerging frontiers in epigenetic regulation
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“BRCA1 epigenetic inactivation has been reported in ovarian cancer [23, 24], and has been recently proven to be a predictor of enhanced sensitivity to platinum-based chemotherapy [25].”
Brown, L. A., Johnson, K., Leung, S., Bismar, T. A., Benitez, J. J., Foulkes, W. D., & Huntsman, D. D. (2009) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0479-x · Cited by 38
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Talens, F., Jalving, M., Gietema, J. A., & van Vugt, M. A. T. M. (2017) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2017.1322061 · Cited by 41
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Reis, A. H. O., Vargas, F. R., & Lemos, B. (2016) · Tumor Biology · doi:10.1007/s13277-016-5278-5 · Cited by 40
“MLH1,whose protein is involved in the DNAmismatch repair machinery and microsatellite repeat stability, is frequently hypermethylated in colon cancer and, at a lower frequency, in endometrial and ovarian cancers [45–48]; (v) BRCA1 is hypermethylated in 55 % of sporadic mucinous breast carcinomas, 67 % of medullary bre…”
BackgroundJiang, Z., Lai, Y., Beaver, J. M., Tsegay, P. S., Zhao, M., Horton, J. K., Zamora, M. E., Rein, H. L., Miralles, F., Shaver, M., et al. (2020) · Cells · doi:10.3390/cells9010225 · Cited by 38
Basal-like breast cancer displays distinct patterns of promoter methylation
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Locke, I., Kote‐Jarai, Z., Fackler, M. J., Bancroft, E. K., Osin, P., Nerurkar, A. Y., Izatt, L., Pichert, G., Gui, G. P. H., & Eeles, R. A. (2007) · Breast Cancer Research · doi:10.1186/bcr1657 · Cited by 37
“Key targets of aberrant promoter hypermethylation in breast cancer development include genes involved in all stages of tumorigenesis such as DNA repair (BRCA1), receptors (ER, RAR-β), intracellular signalling pathways, cell cycle regulation (Cyclin D2, p16INK4A), transcription factors (Twist), adhesion molecules (E-ca…”
BackgroundMultigene Methylation Analysis of Gastrointestinal Tumors
Sabbioni, S., Miotto, E., Veronese, A., Sattin, E., Gramantieri, L., Bolondi, L., Colin, G. A., Gaá, R., Lanza, G., Carli, G., et al. (2003) · Molecular Diagnosis · doi:10.1007/bf03260039 · Cited by 37
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“Emerging research suggests hypermethylation of the BRCA1 promoter may be an inactivating mechanism for BRCA1 expression not only in breast and ovarian cancer but also lung and oral cancer [84,85].”
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Parkes, E. E., & Kennedy, R. D. (2016) · The Oncologist · doi:10.1634/theoncologist.2015-0438 · Cited by 37
Molecular analysis of PALB2‐associated breast cancers
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“However, while the ‘two hit’ model clearly applies for genes such as BRCA1 [41,42] (and reviewed in ref [43]), there have been doubts as to whether this is required for other hereditary breast cancer genes.”
BackgroundInfluentialThakur, C., Chen, B., Li, L., Zhang, Q., Yang, Z.-Q., & Chen, F. (2018) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-018-0027-4 · Cited by 36
Targeting DNA Repair in Ovarian Cancer Treatment Resistance
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DNA Methylation Profiles of Female Steroid Hormone-Driven Human Malignancies
Campan, M., Weisenberger, D. J., & Laird, P. W. (2006) · Springer eBooks · doi:10.1007/3-540-31181-5_8 · Cited by 37
Understanding Germ-Line Mutations inBRCA1
Szabo, C. I., Worley, T., & Monteiro, Á. N. A. (2004) · Cancer Biology & Therapy · doi:10.4161/cbt.3.6.841 · Cited by 37
Hüper, G., & Marks, J. R. (2007) · Cancer Research · doi:10.1158/0008-5472.can-06-4065 · Cited by 36
Stefánsson, Ó. A., Hilmarsdóttir, H., Ólafsdóttir, K., Tryggvadóttír, L., Sverrisdóttir, Á., Johannsson, O. T., Jonasson, J. G., Eyfjord, J. E., & Sigurðsson, S. (2019) · JNCI Cancer Spectrum · doi:10.1093/jncics/pkz100 · Cited by 35
“BRCA1 is sometimes inactivated in breast tumors by promoter methylation (17,18).”
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Constitutional Mosaic Epimutations – a hidden cause of cancer?
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“Further, BRCA1 promoter methylation has been associated with transcriptional downregulation of BRCA1 [96-99].”
BackgroundDNA Methylation Markers in Lung Cancer
Hong, Y., & Kim, W. J. (2020) · Current Genomics · doi:10.2174/1389202921999201013164110 · Cited by 35
“Cancer cells have been shown to present an aberrant methylation signature, occurring either as a global hypomethylation or specific hypermethylation on the promoter of tumor suppressor genes [17-19].”
BackgroundTherapeutic options for triple-negative breast cancers with defective homologous recombination
Jaspers, J. E., Rottenberg, S., & Jonkers, J. (2009) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2009.07.001 · Cited by 35
“breast and ovarian cancers [40,42–44].”
BRCA1—A good predictive marker of drug sensitivity in breast cancer treatment?
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Therapeutic implications of DNA methylation
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“Regional hypermethylation in cancer & its therapeutic implications Hypermethylation of tumor suppressor genes in cancer A large list of genes, including classical tumor suppressor genes which were defined by germline mutations as well as other genes that were shown to suppress tumor cell growth in culture, were found…”
BackgroundEpigenetic Alterations in Inflammatory Bowel Disease and Cancer
Yi, J. M., & Kim, T. O. (2015) · Intestinal Research · doi:10.5217/ir.2015.13.2.112 · Cited by 33
Translational application of epigenetic alterations: Ovarian cancer as a model
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“function of key genes (such as BRCA1) or the impairment of key pathways (such as BRCA/HR) [29,87].”
BackgroundInfluentialLoss of BRCA1 promotor hypermethylation in recurrent high-grade ovarian cancer
Prieske, K., Prieske, S., Joosse, S. A., Trillsch, F., Grimm, D., Burandt, E., Mahner, S., Schmalfeldt, B., Milde‐Langosch, K., Oliveira‐Ferrer, L., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.20945 · Cited by 33
“In our study, primers were chosen as previously described, crossing the major transcription start site in the promoter of BRCA1 at 1581 bp [11, 13].”
MethodEpigenetic inactivation of BRCA1 through promoter hypermethylation in ovarian cancer progression
Wang, Y., Yan, Q., Zhang, J., Li, S., Yang, Y., & Wan, X. (2012) · Journal of obstetrics and gynaecology research · doi:10.1111/j.1447-0756.2012.01979.x · Cited by 33
BRCA1 modulates the expression of hnRNPA2B1 and KHSRP
Santarosa, M., Col, L. D., Viel, A., Bivi, N., DˈAmbrosio, C., Scaloni, A., Tell, G., & Maestro, R. (2010) · Cell Cycle · doi:10.4161/cc.9.23.14022 · Cited by 33
“Although BRCA1 mutations are rarely found in sporadic tumors, the significant percentage of cases showing reduced mRNA/protein expression levels suggests that loss of BRCA1-mediated functions may also play a role in sporadic breast and ovarian cancers.(1,2) BRCA1 protein is characterized by three recognizable regions,…”
BackgroundMethylation-related mutations in the BRCA1 promoter in peripheral blood cells from cancer-free women
Al‐Moghrabi, N. (2011) · International Journal of Oncology · doi:10.3892/ijo.2011.1021 · Cited by 35
“Indeed, the functional equivalence between the effect and significance of the epigenetic silencing of BRCA1 and the inheritance of BRCA1 mutations (26,28,29), has supported the notion that BRCA1 promoter methylation may serve as a ‘first hit’, much like an inherited germline mutation (25).”
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“CpG ER1 region of ERα gene and BRCA1 promoter were also determined [18, 19].”
BackgroundApplication of DNA methylation biomarkers for endometrial cancer management
Jiang, S., Li, J., Podratz, K. C., & Dowdy, S. C. (2008) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.8.5.607 · Cited by 33
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“…associated with high HRD scores and account for up to 15% of HRD HGSC. 44,45 Whilst some studies have reported that BRCA1/RAD51C methylation is associated with better prognosis 39,46 other studies have described inconsistent findings and poor reliability of this as a biomarker for PARPi response.”
Yu, S., Cao, S., He, S., & Zhang, K. (2023) · Small Methods · doi:10.1002/smtd.202201624 · Cited by 32
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“Promoter hypermethylation of BRCA1 has been reported in 13%of sporadic breast tumors [83], with promoter hypermethylation of FANCC (PALB2), FANCO (RAD51C), and FANCF also reported [84–86].”
BackgroundPrognostic significance of BRCA1 expression in gastric cancer
Chen, W., Wang, J., Li, X., Li, J., Zhou, L. Q., Qiu, T., Zhang, M., & Liu, P. (2013) · Medical Oncology · doi:10.1007/s12032-012-0423-5 · Cited by 32
Feedback networks between microRNAs and epigenetic modifications in urological tumors
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Watanabe, Y., Maeda, I., Oikawa, R., Wu, W., Tsuchiya, K., Miyoshi, Y., Itoh, F., Tsugawa, K., & Ohta, T. (2013) · Genes to Cells · doi:10.1111/gtc.12100 · Cited by 32
“However, in most previous reports, the methylation status was analyzed with methylation-specific restriction enzyme-based assays (Dobrovic & Simpfendorfer 1997; Magdinier et al. 1998; Catteau et al. 1999; Niwa et al. 2000) or methylation-specific PCR (MSP) (Esteller et al. 2000, 2001; Rice et al. 2000; Alvarez et al.…”
BackgroundMethodInfluentialKikuyama, M., Takeshima, H., Kinoshita, T., Okochi‐Takada, E., Wakabayashi, M., Akashi‐Tanaka, S., Ogawa, T., Seto, Y., & Ushijima, T. (2012) · Cancer Letters · doi:10.1016/j.canlet.2012.03.016 · Cited by 32
“However, some TSGs, such as BRCA1, are reported to be frequently methylated in primary breast cancer tissues [56–58], but infrequently in cancer cell lines [59].”
BackgroundDNA array‐based method for detection of large rearrangements in the BRCA1 gene
Frolov, A., Prowse, A. H., Vanderveer, L., Bove, B. A., Wu, H., & Godwin, A. K. (2002) · Genes Chromosomes and Cancer · doi:10.1002/gcc.10109 · Cited by 32
“%) of ovarian tumors (Esteller et al., 2000; Russell et al., 2000).”
Endorsement of TNBC Biomarkers in Precision Therapy by Nanotechnology
Chaudhuri, A., Kumar, D. N., Dehari, D., Patil, R., Singh, S. K., Kumar, D. K., & Agrawal, A. K. (2023) · Cancers · doi:10.3390/cancers15092661 · Cited by 32
“It was observed that the mutation of BRCA1 was inhibited in TNBC by the prevention of hypermethylation [141].”
BackgroundZhang, S., Li, S., & Gao, J. (2013) · Cancer Cell International · doi:10.1186/1475-2867-13-109 · Cited by 31
“Such as promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors [3], hypermethylation of the APC (adenomatous polyposis coli) gene promoter region is involved in human colorectal carcinoma [4], incidence and functional consequences of hMLH1 promoter hypemethylation in colorectal carcinom…”
BackgroundSandeep Kumar, S., Swamy, S. N., Premalatha, C., Pallavi, V. R., & Gawari, R. (2019) · Asian Pacific Journal of Cancer Prevention · doi:10.31557/apjcp.2019.20.10.3001 · Cited by 31
“Effect of genetic and epigenetic alterations in the BRCA1 gene is attributed in many malignancies including breast and ovarian cancers (Esteller et al., 2000).”
BackgroundDahn, M. L., Cruickshank, B. M., Jackson, A. J., Dean, C. A., Holloway, R. W., Hall, S. R., Coyle, K. M., Maillet, H., Waisman, D. M., Goralski, K. B., et al. (2020) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-19-0745 · Cited by 32
Yari, K., Payandeh, M., & Rahimi, Z. (2015) · Tumor Biology · doi:10.1007/s13277-015-4731-1 · Cited by 31
Kurebayashi, J. (2009) · Breast Cancer · doi:10.1007/s12282-009-0111-2 · Cited by 30
“The BRCA1 gene promoter has been reported to be methylated in over 60% of medullary or metaplastic breast cancers of basal-like phenotype [22, 24 , 25].”
BackgroundDistinct Genetic and Epigenetic Changes in Medullary Breast Cancer
Osin, P., Lu, Y., Stone, J., Crook, T., Houlston, R. S., Gasco, M., Gusterson, B. A., & SHIPLEY, J. M. (2003) · International Journal of Surgical Pathology · doi:10.1177/106689690301100301 · Cited by 31
“Recently hypermethylation of BRCAJ promoter region of unselected breast carcinomas was reported to be much lower (13%) than in medullary carcinomas (67%) [18].”
BackgroundMethodBiomarkers of PARP inhibitor sensitivity
Turner, N. C., & Ashworth, A. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1375-8 · Cited by 31
“There is in vitro evidence, of varying strength, to support as potentially biomarkers of PARP inhibitor sensitivity, BRCA1/2 sporadic mutation [8], BRCA1 promoter methylation [9, 10], BRCA1 suppression in the absence of methylation [10], PTEN deficient cancers [11], ATM mutation [12, 13], MRE11 dominant negative mutat…”
BackgroundGynaecological neoplasms in common familial syndromes (Lynch and HBOC)
Bartosch, C., Clarke, B. A., & Bosse, T. (2017) · Pathology · doi:10.1016/j.pathol.2017.10.010 · Cited by 29
BRCA1 deficiency in triple-negative breast cancer: Protein stability as a basis for therapy
Choi, E. A., Mun, G., Lee, J., Lee, H., Cho, J., & Lee, Y. (2022) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2022.114090 · Cited by 34
“However, the involvement of BRCA1 has not been clearly elucidated in non-hereditary breast cancers, which account for 90% of all cases [145,146].”
Moving Toward Personalized Medicine
Trainer, A. H., Meiser, B., Watts, K., Mitchell, G., Tucker, K., & Friedlander, M. L. (2010) · International Journal of Gynecological Cancer · doi:10.1111/igc.0b013e3181dbd1a5 · Cited by 31
BRCA1 is regulated by Chk2 in response to spindle damage
Chabalier-Taste, C., Racca, C., Dozier, C., & Larminat, F. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.08.006 · Cited by 29
CpG Islands in Cancer: Heads, Tails, and Sides
Ferreira, H. J., & Esteller, M. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7768-0_4 · Cited by 30
Self-citationMathematical models of DNA methylation dynamics: Implications for health and ageing
Zagkos, L., Auley, M. T. M., Roberts, J. A., & Kavallaris, N. I. (2018) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2018.11.006 · Cited by 30
Epigenetic regulation of breast cancer metastasis
Thakur, C., Qiu, Y., Pawar, A. S., & Chen, F. (2023) · Cancer and Metastasis Reviews · doi:10.1007/s10555-023-10146-7 · Cited by 31
“Hypermethylation owing to abnormal DNA methyl-transferase activity resulting in the inactivation of genes of tumor suppressor behavior such as HOXA5, TMS1, p16, RASSF1A, and BRCA1 has been identified in breast cancer [212–214].”
Gacem, R. B., Hachana, M., Ziadi, S., Amara, K., Ksiâa, F., Mokni, M., & Trimèche, M. (2011) · Cancer Epidemiology · doi:10.1016/j.canep.2011.09.001 · Cited by 29
“The methylation status of BRCA1 and BRCA2 promoter was determined by methylation-specific PCR (MS-PCR) using methylated and unmethylated specific primers for each gene as described elsewhere [17,26] (Table 2).”
BackgroundMethodInfluentialTargeting DNA Damage Response and Repair as a Therapeutic Strategy for Ovarian Cancer
Konstantinopoulos, P. A., & Matulonis, U. A. (2018) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2018.07.006 · Cited by 29
Kanakkanthara, A., Huntoon, C. J., Hou, X., Zhang, M., Heinzen, E. P., O’Brien, D. R., Oberg, A. L., Weroha, S. J., Kaufmann, S. H., & Karnitz, L. M. (2019) · Nature Communications · doi:10.1038/s41467-019-12610-x · Cited by 28
Research advances and new challenges in overcoming triple-negative breast cancer
Zong, Y., & Pegram, M. D. (2021) · Cancer Drug Resistance · doi:10.20517/cdr.2021.04 · Cited by 29
Genomic and epigenomic profile of thyroid cancer
Acuña-Ruíz, A., Carrasco-López, C., & Santisteban, P. (2022) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2022.101656 · Cited by 30
Chen, Y., Zhou, J., Xu, Y., Li, Z., Wen, X., Yao, L., Xie, Y., & Deng, D. (2009) · Cancer Science · doi:10.1111/j.1349-7006.2009.01225.x · Cited by 29
MYC overexpression and poor prognosis in sporadic breast cancer with BRCA1 deficiency
Ren, J., Jin, F., Yu, Z., Zhao, L., Wang, L., Bai, X., Zhao, H., Yao, W., Mi, X., Wang, E., et al. (2013) · Tumor Biology · doi:10.1007/s13277-013-0983-9 · Cited by 29
“An alternative mechanism for BRCA1 inactivation has been suggested to be gene silencing by epigenetic mechanism, methylation of CpG islands in promoter regions [8, 9].”
BackgroundIncreased BRCA1 protein in mammary tumours of rats fed marine ω-3 fatty acids
Jourdan, M., Mahéo, K., Barascu, A., Goupille, C., de Latour, M., Bougnoux, P., & Rio, P. G. (2007) · Oncology Reports · doi:10.3892/or.17.4.713 · Cited by 29
Gacem, R. B., Hachana, M., Ziadi, S., Abdelkarim, S. B., Hidar, S., & Trimèche, M. (2012) · Human Pathology · doi:10.1016/j.humpath.2011.12.022 · Cited by 29
“Promoter hypermethylation of BRCA1, BRCA2, RASSF1A, TIMP3, CDH1, P16, RARβ2, and DAPK genes were detected in 61 (65%), 64 (68%), 74 (79%), 18 (19%), 42 (45%), 35 (37%), and 35 (37”
MethodPepe, C., Guidugli, L., Sensi, E., Aretini, P., D'Andrea, E., Montagna, M., Manoukian, S., Ottini, L., Radice, P., Viel, A., et al. (2006) · Breast Cancer Research and Treatment · doi:10.1007/s10549-006-9349-y · Cited by 29
“breast cancer histopathologic subgroups such as medullary breast carcinomas [5–7] Moreover, this epige-”
BackgroundBaker, L. A., Holliday, H., & Swarbrick, A. (2016) · Endocrine Related Cancer · doi:10.1530/erc-16-0196 · Cited by 28
Ichida, K., Suzuki, K., Fukui, T., Takayama, Y., Kakizawa, N., Watanabe, F., Ishikawa, H., Muto, Y., Kato, T., Saito, M., et al. (2018) · International Journal of Oncology · doi:10.3892/ijo.2018.4321 · Cited by 29
“…alterations have been recognized to induce the transcription silencing of tumor suppressor genes at the CpG island of the promoter region (5-7), global hypomethylation alterations have not received much attention, with no studies to date investigating the role of such changes in the…”
Bagadi, S. A. R., Prasad, C. P., Kaur, J., Srivastava, A., Prashad, R., Gupta, S. D., & Ralhan, R. (2008) · Life Sciences · doi:10.1016/j.lfs.2008.04.020 · Cited by 31
“The methylation frequencies observed in the present study, 72% for RASSF1A, 28% for BRCA1 and 67% for HOXA5 were similar to the frequencies previously reported in western population (Catteau et al., 1999; Esteller et al., 2000; Raman et al., 2000a; Rice and Futscher, 2000; Matros et al., 2005).”
ResultInfluentialKong, W., Zhang, S., Guo, C.-K., Zhang, S., Wang, Y., & Zhang, D. (2005) · The Laryngoscope · doi:10.1097/01.mlg.0000166708.23673.3a · Cited by 29
Evaluation of the methods to identify patients who may benefit from PARP inhibitor use
Lim, D. G. S., & Ngeow, J. Y. Y. (2016) · Endocrine Related Cancer · doi:10.1530/erc-16-0116 · Cited by 28
Murria, R., Palanca, S., de Juan, I., Alenda, C., Egoavil, C. M., Fj, S., García‐Casado, Z., Mj, J., Ab, S., Segura, Á., et al. (2015) · Europe PMC (PubMed Central) · Cited by 28
Niraparib for the treatment of ovarian cancer
Kanjanapan, Y., Lheureux, S., & Oza, A. M. (2017) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2017.1297423 · Cited by 30
“Response was correlated with underlying HRD, which may be from mutations in homologous recombination genes, or other mechanisms such as methylation [2,16].”
BackgroundEffects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures
Bodily, W. R., Shirts, B. H., Walsh, T., Gülsüner, S., King, M., Parker, A., Roosan, M. R., & Piccolo, S. (2020) · PLoS ONE · doi:10.1371/journal.pone.0239197 · Cited by 27
An, J., Wei, Q., Liu, Z., Lu, K. H., Cheng, X. R., Mills, G. B., & Wang, L. (2010) · Europe PMC (PubMed Central) · Cited by 28
Li, Q., WEI, W., JIANG, Y., Yang, H., & Liu, J. (2015) · Oncology Letters · doi:10.3892/ol.2015.2908 · Cited by 33
Mechanism of BRCA1-Mediated Inhibition of Progesterone Receptor Transcriptional Activity
Katiyar, P., Ma, Y., Riegel, A. T., Fan, S., & Rosen, E. M. (2009) · Molecular Endocrinology · doi:10.1210/me.2008-0347 · Cited by 29
Turkington, R. C., Knight, L. A., Blayney, J. K., Secrier, M., Douglas, R. V., Parkes, E. E., Sutton, E. K., Stevenson, L. S., McManus, D. T., Halliday, S. R., et al. (2019) · Gut · doi:10.1136/gutjnl-2018-317624 · Cited by 28
“abnormal DNA damage response due to epigenetic silencing of BRCA1/2.(48,49) Therefore,”
BackgroundInfluentialThe emerging potential of poly(ADP-ribose) polymerase inhibitors in the treatment of breast cancer
Drew, Y., & Plummer, R. (2009) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0b013e328334ff57 · Cited by 29
Novel somatic mutations in the BRCA1 gene in sporadic breast tumors
Janatová, M., Zikán, M., Dundr, P., Matouš, B., & Pohlreich, P. (2005) · Human Mutation · doi:10.1002/humu.9308 · Cited by 28
“An aberrant methylation of CpG islands of the BRCA1 promoter region could lead to transcriptional silencing of a BRCA1 allele (Esteller et al., 2000; Miyamoto et al., 2002).”
BackgroundLack of HIN-1 methylation in BRCA1-linked and "BRCA1-like" breast tumors.
Krop, I. E., Maguire, P. T., Lahti‐Domenici, J., Lodeiro, G., Richardson, A. L., Johannsdottir, H., Nevanlinna, H. A., Borg, Å., Gelman, R. S., Barkardottir, R. B., et al. (2003) · PubMed · Cited by 28
Geisler, J. P., Hatterman‐Zogg, M. A., Rathe, J. A., Lallas, T. A., Kirby, P., & Buller, R. E. (2001) · Human Mutation · doi:10.1002/humu.1195 · Cited by 28
“Certainly, this finding is consistent with such a mechanism and has been reported by others [Esteller et al., 2000; Baldwin et al., 2000].”
ResultDirect Sensing of 5‐Methylcytosine by Polymerase Chain Reaction
Aschenbrenner, J., Drum, M., Topal, H., Wieland, M., & Marx, A. (2014) · Angewandte Chemie International Edition · doi:10.1002/anie.201403745 · Cited by 27
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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