{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T03:00:42Z","timestamp":1760151642205,"version":"build-2065373602"},"reference-count":57,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T00:00:00Z","timestamp":1649116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007076","name":"Italian Association for Cancer Research","doi-asserted-by":"publisher","award":["23794 (P.I. Cristiano Simone)"],"award-info":[{"award-number":["23794 (P.I. Cristiano Simone)"]}],"id":[{"id":"10.13039\/501100007076","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Italian Ministry of Health","award":["\u201cRicerca Corrente 2018\u20132020; 2019\u20132021\u201d (P.I. Cristiano Simone)","Ricerca Corrente 2022-2024 (P.I. Vittoria Disciglio)","\u201cStarting Grant\u201d SG-2019-12371540 (P.I. Paola Sanese)","Ricerca Corrente 2022-2024 (P.I. Candida Fasano)"],"award-info":[{"award-number":["\u201cRicerca Corrente 2018\u20132020; 2019\u20132021\u201d (P.I. Cristiano Simone)","Ricerca Corrente 2022-2024 (P.I. Vittoria Disciglio)","\u201cStarting Grant\u201d SG-2019-12371540 (P.I. Paola Sanese)","Ricerca Corrente 2022-2024 (P.I. Candida Fasano)"]}]},{"DOI":"10.13039\/501100003407","name":"Ministry of Education, Universities and Research","doi-asserted-by":"publisher","award":["2017 PRIN (Research Projects of National Relevance) n. 2017WNKSLr-LS4 (P.I. Cristiano Simone)"],"award-info":[{"award-number":["2017 PRIN (Research Projects of National Relevance) n. 2017WNKSLr-LS4 (P.I. Cristiano Simone)"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Genetic variants located in non-coding regions can affect processes that regulate protein expression, functionally contributing to human disease. Germline heterozygous mutations in the non-coding region of the PTEN gene have been previously identified in patients with PTEN hamartoma tumor syndrome (PHTS) diagnosed with breast, thyroid, and\/or endometrial cancer. In this study, we report a PTEN promoter variant (rs34149102 A allele) that was identified by direct sequencing in an Italian family with a history of gastroesophageal junction (GEJ) adenocarcinoma and breast cancer. In order to investigate the putative functional role of the rs34149102 A allele variant, we evaluated the status of PTEN alterations at the somatic level. We found that PTEN protein expression was absent in the GEJ adenocarcinoma tissue of the index case. Moreover, we detected the occurrence of copy number loss involving the PTEN rs34149102 major C allele in tumor tissue, revealing that the second allele was somatically inactivated. This variant is located within an active regulatory region of the PTEN core promoter, and in silico analysis suggests that it may affect the binding of the nuclear transcription factor MAZ and hence PTEN expression. Overall, these results reveal the functional role of the PTEN promoter rs34149102 A allele variant in the modulation of PTEN protein expression and highlight its contribution to hereditary cancer risk.<\/jats:p>","DOI":"10.3390\/genes13040644","type":"journal-article","created":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T06:01:34Z","timestamp":1649138494000},"page":"644","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors"],"prefix":"10.3390","volume":"13","author":[{"given":"Vittoria","family":"Disciglio","sequence":"first","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Sanese","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5878-3480","authenticated-orcid":false,"given":"Candida","family":"Fasano","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7999-9739","authenticated-orcid":false,"given":"Claudio","family":"Lotesoriere","sequence":"additional","affiliation":[{"name":"Oncology Unit, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6798-808X","authenticated-orcid":false,"given":"Anna","family":"Valentini","sequence":"additional","affiliation":[{"name":"Department of Pathology, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Forte","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Lepore Signorile","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katia","family":"De Marco","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Grossi","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"Lolli","sequence":"additional","affiliation":[{"name":"Oncology Unit, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filomena","family":"Cariola","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiano","family":"Simone","sequence":"additional","affiliation":[{"name":"Medical Genetics, National Institute of Gastroenterology\u2014IRCCS \u201cS. de Bellis\u201d Research Hospital, Castellana Grotte, 70013 Bari, Italy"},{"name":"Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari Aldo Moro, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/s41586-019-1879-7","article-title":"A Brief History of Human Disease Genetics","volume":"577","author":"Claussnitzer","year":"2020","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41698-018-0075-9","article-title":"Cancer Prevention and Screening: The next Step in the Era of Precision Medicine","volume":"3","author":"Umar","year":"2019","journal-title":"NPJ Precis. Oncol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1200\/JCO.2005.10.042","article-title":"Hereditary Cancer Predisposition Syndromes","volume":"23","author":"Garber","year":"2005","journal-title":"J. Clin. Oncol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1136\/jmedgenet-2019-106299","article-title":"Gastric Polyposis and Desmoid Tumours as a New Familial Adenomatous Polyposis Clinical Variant Associated with APC Mutation at the Extreme 3\u2019-End","volume":"57","author":"Disciglio","year":"2020","journal-title":"J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Lepore Signorile, M., Disciglio, V., Di Carlo, G., Pisani, A., Simone, C., and Ingravallo, G. (2021). From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22136767"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Hemminki, K., Sundquist, K., Sundquist, J., F\u00f6rsti, A., Hemminki, A., and Li, X. (2021). Familial Risks and Proportions Describing Population Landscape of Familial Cancer. Cancers, 13.","DOI":"10.3390\/cancers13174385"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/nrg.2015.17","article-title":"Role of Non-Coding Sequence Variants in Cancer","volume":"17","author":"Khurana","year":"2016","journal-title":"Nat. Rev. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"442","DOI":"10.15252\/emmm.201506055","article-title":"The Dark Matter of the Cancer Genome: Aberrations in Regulatory Elements, Untranslated Regions, Splice Sites, Non-Coding RNA and Synonymous Mutations","volume":"8","author":"Diederichs","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","article-title":"A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands","volume":"88","author":"Tan","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_10","unstructured":"(2021, November 16). Genome Browsers 1000 Genomes. Available online: https:\/\/www.internationalgenome.org\/1000-genomes-browsers\/index.html."},{"key":"ref_11","unstructured":"(2021, November 16). GnomAD Browser. Available online: https:\/\/gnomad.broadinstitute.org\/."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1038\/labinvest.3700664","article-title":"MS-MLPA: An Attractive Alternative Laboratory Assay for Robust, Reliable, and Semiquantitative Detection of MGMT Promoter Hypermethylation in Gliomas","volume":"87","author":"Jeuken","year":"2007","journal-title":"Lab. Investig."},{"key":"ref_13","unstructured":"(2021, November 16). MatInspector. Available online: https:\/\/www.genomatix.de\/online_help\/help_matinspector\/matinspector_help.html."},{"key":"ref_14","unstructured":"(2021, November 16). PROMO. Available online: http:\/\/alggen.lsi.upc.es\/cgi-bin\/promo_v3\/promo\/promoinit.cgi?dirdb=TF_8.3."},{"key":"ref_15","unstructured":"(2021, November 16). OncoBase. Available online: http:\/\/www.oncobase.biols.ac.cn\/."},{"key":"ref_16","unstructured":"(2021, November 16). RegulomeDB. Available online: https:\/\/regulomedb.org\/regulome-search\/."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"9","DOI":"10.6004\/jnccn.2017.0003","article-title":"NCCN Guidelines Insights: Genetic\/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017","volume":"15","author":"Daly","year":"2017","journal-title":"J. Natl. Compr. Canc. Netw."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","article-title":"Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria","volume":"105","author":"Pilarski","year":"2013","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_19","first-page":"1291","article-title":"APC Promoter Methylation in Gastrointestinal Cancer","volume":"11","author":"Zhu","year":"2021","journal-title":"Front. Oncol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s10585-018-9935-5","article-title":"ESR1-Promoter-Methylation Status in Primary Breast Cancer and Its Corresponding Metastases","volume":"35","author":"Kirn","year":"2018","journal-title":"Clin. Exp. Metastasis"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"R101","DOI":"10.1186\/bcr3220","article-title":"Promoter Hypermethylation in Male Breast Cancer: Analysis by Multiplex Ligation-Dependent Probe Amplification","volume":"14","author":"Kornegoor","year":"2012","journal-title":"Breast Cancer Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"S363","DOI":"10.1016\/S0753-3322(05)80079-4","article-title":"DNA Hypermethylation of TIMP3 Gene in Invasive Breast Ductal Carcinoma","volume":"59","author":"Lui","year":"2005","journal-title":"Biomed. Pharm."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1007\/s12253-018-0398-4","article-title":"TIMP3 Promoter Methylation Represents an Epigenetic Marker of BRCA1ness Breast Cancer Tumours","volume":"24","author":"Jakimovska","year":"2018","journal-title":"Pathol. Oncol. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1086\/377109","article-title":"Germline PTEN Promoter Mutations and Deletions in Cowden\/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase\/Akt Pathway","volume":"73","author":"Zhou","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_25","first-page":"306","article-title":"A Novel PTEN Gene Promoter Mutation and Untypical Cowden Syndrome","volume":"25","author":"Liu","year":"2013","journal-title":"Chin. J. Cancer Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1086\/521051","article-title":"Cowden Syndrome-Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation","volume":"81","author":"Teresi","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1086\/504392","article-title":"Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome","volume":"79","author":"Sarquis","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"4472","DOI":"10.3748\/wjg.v11.i29.4472","article-title":"Down-Regulation of PTEN Expression Due to Loss of Promoter Activity in Human Hepatocellular Carcinoma Cell Lines","volume":"11","author":"Ma","year":"2005","journal-title":"World J. Gastroenterol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e9866","DOI":"10.15252\/msb.20209866","article-title":"TATA and Paused Promoters Active in Differentiated Tissues Have Distinct Expression Characteristics","volume":"17","author":"Ramalingam","year":"2021","journal-title":"Mol. Syst. Biol."},{"key":"ref_30","unstructured":"Spitz, F., and Furlong, E.E.M. (2021, November 23). Transcription Factors: From Enhancer Binding to Developmental Control|Nature Reviews Genetics. Available online: https:\/\/www.nature.com\/articles\/nrg3207."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1101\/gr.137323.112","article-title":"Annotation of Functional Variation in Personal Genomes Using RegulomeDB","volume":"22","author":"Boyle","year":"2012","journal-title":"Genome. Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1126\/science.1230062","article-title":"TERT Promoter Mutations in Familial and Sporadic Melanoma","volume":"339","author":"Horn","year":"2013","journal-title":"Science"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2013.01.002","article-title":"Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers","volume":"92","author":"French","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_34","first-page":"e503762","article-title":"Noncoding Genomics in Gastric Cancer and the Gastric Precancerous Cascade: Pathogenesis and Biomarkers","volume":"2015","author":"Saavedra","year":"2015","journal-title":"Dis. Markers"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/s41588-018-0286-6","article-title":"Discovery of Common and Rare Genetic Risk Variants for Colorectal Cancer","volume":"51","author":"Huyghe","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"338","DOI":"10.3389\/fendo.2018.00338","article-title":"PTEN: Tumor Suppressor and Metabolic Regulator","volume":"9","author":"Chen","year":"2018","journal-title":"Front. Endocrinol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.cell.2008.04.013","article-title":"Tenets of PTEN Tumor Suppression","volume":"133","author":"Salmena","year":"2008","journal-title":"Cell"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1158\/0008-5472.CAN-10-2488","article-title":"PTEN Level in Tumor Suppression: How Much Is Too Little?","volume":"71","author":"Carracedo","year":"2011","journal-title":"Cancer Res."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/ng.556","article-title":"Subtle Variations in Pten Dose Determine Cancer Susceptibility","volume":"42","author":"Alimonti","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4687","DOI":"10.1242\/jcs.093765","article-title":"PTEN at a Glance","volume":"125","author":"Shi","year":"2012","journal-title":"J. Cell Sci."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/labinvest.3780422","article-title":"Promoter Methylation and Silencing of PTEN in Gastric Carcinoma","volume":"82","author":"Kang","year":"2002","journal-title":"Lab. Investig."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"32723","DOI":"10.1038\/srep32723","article-title":"The Association between Phosphatase and Tensin Homolog Hypermethylation and Patients with Breast Cancer, a Meta-Analysis and Literature Review","volume":"6","author":"Lu","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"3014","DOI":"10.1158\/0008-5472.CAN-2401-2","article-title":"Frequent Inactivation of PTEN by Promoter Hypermethylation in Microsatellite Instability-High Sporadic Colorectal Cancers","volume":"64","author":"Goel","year":"2004","journal-title":"Cancer Res."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Pilarski, R. (2019). PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers, 11.","DOI":"10.3390\/cancers11060844"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1146\/annurev-med-052218-125823","article-title":"The Clinical Spectrum of PTEN Mutations","volume":"71","author":"Yehia","year":"2020","journal-title":"Annu. Rev. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ncpgasthep1359","article-title":"A Case of Cowden\u2019s Syndrome Presenting with Gastric Carcinomas and Gastrointestinal Polyposis","volume":"6","author":"Palma","year":"2009","journal-title":"Nat. Rev. Gastroenterol. Hepatol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"e131","DOI":"10.1016\/j.clinre.2013.02.013","article-title":"Novel Mutation Identified in Cowden Syndrome Presenting as a Gastric Adenocarcinoma","volume":"37","author":"Marques","year":"2013","journal-title":"Clin. Res. Hepatol. Gastroenterol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1097\/RLU.0b013e31823ea44d","article-title":"The Use of 18F-FDG PET\/CT in Cowden Syndrome to Differentiate Multifocal Gastric Carcinoma From Extensive Benign Gastric Polyposis","volume":"37","author":"Makis","year":"2012","journal-title":"Clin. Nucl. Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.cancergen.2014.11.002","article-title":"Esophageal Cancer in a Family with Hamartomatous Tumors and Germline PTEN Frameshift and SMAD7 Missense Mutations","volume":"208","author":"Sherman","year":"2015","journal-title":"Cancer Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1093\/hmg\/ddm053","article-title":"Comparative Genomic and Functional Analyses Reveal a Novel Cis-Acting PTEN Regulatory Element as a Highly Conserved Functional E-Box Motif Deleted in Cowden Syndrome","volume":"16","author":"Pezzolesi","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"R130","DOI":"10.1186\/bcr3076","article-title":"Variants on the Promoter Region of PTEN Affect Breast Cancer Progression and Patient Survival","volume":"13","author":"Heikkinen","year":"2011","journal-title":"Breast Cancer Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/cam4.362","article-title":"Induction of Ras by SAF-1\/MAZ through a Feed-Forward Loop Promotes Angiogenesis in Breast Cancer","volume":"4","author":"Ray","year":"2015","journal-title":"Cancer Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"4049","DOI":"10.1093\/nar\/gkt127","article-title":"MAZ-Binding G4-Decoy with Locked Nucleic Acid and Twisted Intercalating Nucleic Acid Modifications Suppresses KRAS in Pancreatic Cancer Cells and Delays Tumor Growth in Mice","volume":"41","author":"Cogoi","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1096\/fj.11-202820","article-title":"Myc-Associated Zinc Finger Protein (MAZ) Is Regulated by MiR-125b and Mediates VEGF-Induced Angiogenesis in Glioblastoma","volume":"26","author":"Smits","year":"2012","journal-title":"FASEB J."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1007\/s12032-013-0570-3","article-title":"The Prostate Cancer-up-Regulated Myc-Associated Zinc-Finger Protein (MAZ) Modulates Proliferation and Metastasis through Reciprocal Regulation of Androgen Receptor","volume":"30","author":"Jiao","year":"2013","journal-title":"Med. Oncol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10549-007-9765-7","article-title":"MAZ drives tumor specific expression of PPAR gamma 1 in breast cancer cells","volume":"111","author":"Wang","year":"2008","journal-title":"Breast Cancer Res. Treat"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"4334","DOI":"10.1074\/jbc.RA117.000333","article-title":"The MAZ Transcription Factor Is a Downstream Target of the Oncoprotein Cyr61\/CCN1 and Promotes Pancreatic Cancer Cell Invasion via CRAF-ERK Signaling","volume":"293","author":"Maity","year":"2018","journal-title":"J. Biol. Chem."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/4\/644\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:49:51Z","timestamp":1760136591000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/4\/644"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,5]]},"references-count":57,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4]]}},"alternative-id":["genes13040644"],"URL":"https:\/\/doi.org\/10.3390\/genes13040644","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2022,4,5]]}}}