{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T00:27:46Z","timestamp":1768004866783,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T00:00:00Z","timestamp":1383868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Beckwith\u2013Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of embryonal tumors, such as Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma. We report on a patient with BWS that developed a giant fibroadenoma of the breast that was surgically removed. The tumor relapsed 8 months after the surgery and the patient underwent partial mastectomy. Although the patient presented several clinical features of BWS, a molecular diagnosis was not achieved despite extensive molecular investigations on both blood and tumor tissue. A SNP array revealed a de novo 7p22.1 loss in both blood and breast tumor involving the mismatch repair gene <jats:italic>PMS2<\/jats:italic> gene that may be potentially associated with the breast tumor. In conclusion, it remains unclear whether BWS patients have an increased risk of breast lesions or a yet unknown molecular defect is responsible for the rare occurrence of this tumor in BWS. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36191","type":"journal-article","created":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T21:52:42Z","timestamp":1383947562000},"page":"182-185","source":"Crossref","is-referenced-by-count":6,"title":["Giant breast tumors in a patient with Beckwith\u2013Wiedemann syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agostina","family":"De Crescenzo","sequence":"additional","affiliation":[{"name":"Department of Environmental, Biological and Pharmaceutical Sciences and Technologies at the Second University of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Ciancia","sequence":"additional","affiliation":[{"name":"Department of Pathology Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Canta","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzia","family":"Moio","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Mataro","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Varone","sequence":"additional","affiliation":[{"name":"Department of Pathology Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Pettinato","sequence":"additional","affiliation":[{"name":"Department of Pathology Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orazio","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Casa Sollievo Della Sofferenza Hospital San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Carella","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Casa Sollievo Della Sofferenza Hospital San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Environmental, Biological and Pharmaceutical Sciences and Technologies at the Second University of Naples Naples Italy"},{"name":"Institute of Genetics and Biophysics A. 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