{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T19:02:03Z","timestamp":1781031723985,"version":"3.54.1"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T00:00:00Z","timestamp":1679875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005339","name":"American Academy of Neurology","doi-asserted-by":"publisher","award":["236607"],"award-info":[{"award-number":["236607"]}],"id":[{"id":"10.13039\/100005339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23NS118048"],"award-info":[{"award-number":["K23NS118048"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["pericles.pericles-gcp.literatumonline.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing of downstream effector genes thought to be responsible for their multisystem involvement. Cancer risk and cancer\u2010related deaths are increased in DM patients relative to the general population. We aimed at determining the frequency and type of cancers in both DM1 and DM2 <jats:italic>vs<\/jats:italic> a non\u2010DM muscular dystrophy cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective, cross\u2010sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) at our institutions from 2000 to 2020.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred eighty\u2010five DM1, 67 DM2, 187 FSHD, and 109 OPMD patients were included. Relative to non\u2010DM, DM patients had an increased cancer risk that was independent of age and sex. Specifically, an increased risk of sex\u2010related (ovarian) and non\u2013sex\u2010related (non\u2010melanoma skin, urological, and hematological) cancers was observed in DM1 and DM2, respectively. The length of CTG repeat expansion was not associated with cancer occurrence in the DM1 group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>In addition to current consensus\u2010based care recommendations, our findings prompt consideration of screening for skin, urological, and hematological cancers in DM2 patients, and screening of ovarian malignancies in DM1 female patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27801","type":"journal-article","created":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T13:34:34Z","timestamp":1676468074000},"page":"142-148","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Frequency and type of cancers in myotonic dystrophy: A retrospective cross\u2010sectional study"],"prefix":"10.1002","volume":"68","author":[{"given":"Eleonora S.","family":"D'Ambrosio","sequence":"first","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Harvard Medical School  Boston Massachusetts"},{"name":"Department of Neurology, Brigham Women's Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"David","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony A.","family":"Amato","sequence":"additional","affiliation":[{"name":"Department of Neurology, Brigham Women's Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3980-8555","authenticated-orcid":false,"given":"Paloma","family":"Gonzalez\u2010Perez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,27]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011425"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.23"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1546326"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092\u20108674(92)90154\u20105"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1546325"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062125"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(12)70204\u20101"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng704"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr568"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11067"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.8.1557"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21934"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0079851"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.52.8.1658"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20101331.2006.01261.x"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003124"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13763"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2011.1796"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010012\u20106476\u20108"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2011.09.005"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2013.01.052"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25145"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31143"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25736"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/jncics\/pky052"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2020.117212"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10552\u2010009\u20109395\u2010y"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403\u2010009\u20100997\u20108"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.5530130206"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097\u20104598(200005)23:5<804::aid\u2010mus19>3.0.co;2\u2010e"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21654"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.09.038"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000531"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000645"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058909"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2707"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13276"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1159\/000456074"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50856"}],"container-title":["Muscle 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