{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:42:54Z","timestamp":1791222174015,"version":"4.1.0"},"reference-count":194,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["CA46274"],"award-info":[{"award-number":["CA46274"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>The identification of mutations and deletions in the <jats:italic>SMARCB1<\/jats:italic> locus in chromosome band 22q11.2 in pediatric rhabdoid tumors provided the first evidence for the involvement of the SWI\/SNF chromatin remodeling complex in cancer. Over the last 15 years, alterations in more than 20 members of the complex have been reported in a variety of human tumors. These include germline mutations and copy number alterations in <jats:italic>SMARCB1, SMARCA4<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, and <jats:italic>PBRM1<\/jats:italic> that predispose carriers to both benign and malignant neoplasms. Somatic mutations, structural abnormalities, or epigenetic modifications that lead to reduced or aberrant expression of complex members have now been reported in more than 20% of malignancies, including both solid tumors and hematologic disorders in both children and adults. In this review, we will highlight the role of <jats:italic>SMARCB1<\/jats:italic> in cancer as a paradigm for other tumors with alterations in SWI\/SNF complex members and demonstrate the broad spectrum of mutations observed in complex members in different tumor types. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31410","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T16:42:35Z","timestamp":1409244155000},"page":"350-366","source":"Crossref","is-referenced-by-count":161,"title":["SWI\/SNF chromatin remodeling complexes and cancer"],"prefix":"10.1002","volume":"166","author":[{"given":"Jaclyn A.","family":"Biegel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy M.","family":"Busse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard 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