{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T23:24:56Z","timestamp":1777850696571,"version":"3.51.4"},"reference-count":76,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>X chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating either the maternal or paternal chromosome. This process makes the functional genetic information in females equivalent to a single X chromosome, as in males. Usually, X inactivation occurs in approximately 50% of maternal and 50% of paternal X chromosomes. However, deviations from this ratio can occur, resulting in skewed X inactivation. In women carrying pathogenic variants on the X chromosome\u2014thus presenting X-linked syndromes\u2014such skewing can lead to a wide range of phenotypic manifestations, making X inactivation an important subject of study. Moreover, several X-linked syndromes have been associated with an increased risk of various types of cancer. This risk is influenced not only by specific pathogenic variants but also by mechanisms such as defective X inactivation, which has itself been linked to tumor development. This review compiles both historical and recent findings on X inactivation and its relationship with cancer. It provides an updated overview of the X chromosome inactivation mechanism, a summary of X-linked disorders associated with cancer risk, a discussion of X chromosome involvement in tumorigenesis, an examination of cancer-related genes on the X chromosome, and information on sexual dimorphism in cancer.<\/jats:p>","DOI":"10.3389\/fgene.2026.1820203","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T22:10:15Z","timestamp":1777500615000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["X chromosome inactivation, X-linked disorders, and cancer"],"prefix":"10.3389","volume":"17","author":[{"given":"Consuelo","family":"Salas-Labad\u00eda","sequence":"first","affiliation":[{"name":"Laboratory of Genetics and Cancer, National Institute of Pediatrics","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"P\u00e9rez-Vera","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Cancer, National Institute of Pediatrics","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"G\u00f3mez-Ch\u00e1vez","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Osteoarticulares e Inmunol\u00f3gicas, Secci\u00f3n de Estudios de Posgrado e Investigaci\u00f3n, Escuela Nacional de Medicina y Homeopat\u00eda del Instituto Polit\u00e9cnico Nacional","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ximena","family":"P\u00e9rez Baena","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Cancer, National Institute of Pediatrics","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Mart\u00ednez Anaya","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Cancer, National Institute of Pediatrics","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Col\u00edn Rubio","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Pediatrics","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda del Pilar","family":"Navarrete-Meneses","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics and Cancer, National Institute of Pediatrics","place":["Mexico City, Mexico"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2261","DOI":"10.21873\/anticanres.15706","article-title":"The implication of X-Linked genetic polymorphisms in susceptibility and sexual dimorphism of cancer","volume":"42","author":"Achilla","year":"2022","journal-title":"Anticancer Res."},{"key":"B2","doi-asserted-by":"publisher","first-page":"3931","DOI":"10.1016\/j.cell.2022.09.025","article-title":"GPC3-Unc5 receptor complex structure and role in cell migration","volume":"185","author":"Akkermans","year":"2022","journal-title":"Cell"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1038\/s41594-024-01325-3","article-title":"XIST dampens X chromosome activity in a SPEN-dependent manner during early human development","volume":"31","author":"Alfeghaly","year":"2024","journal-title":"Nat. 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