{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T18:35:39Z","timestamp":1787682939245,"version":"build-2784847793"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,12,2]],"date-time":"2020-12-02T00:00:00Z","timestamp":1606867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001006","name":"Breast Cancer Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001006","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"NCI","doi-asserted-by":"publisher","award":["K12 CA184746"],"award-info":[{"award-number":["K12 CA184746"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"NCI","doi-asserted-by":"publisher","award":["P30CA008748"],"award-info":[{"award-number":["P30CA008748"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009730","name":"Stand Up To Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009730","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology CR"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Juvenile papillomatosis (JP) of the breast is a rare benign mass\u2010forming lesion occurring in young women, which is histologically characterized by a constellation of proliferative changes and large cysts, giving it the gross appearance of Swiss cheese. A subset of patients with JP report a family history of breast carcinoma and\/or coexisting or subsequent breast carcinoma. We performed whole\u2010exome sequencing of the hyperplastic epithelial component of three JPs, including one with coexisting ductal carcinoma <jats:italic>in situ<\/jats:italic> (DCIS) and invasive ductal carcinoma of no special type (IDC\u2010NST). JPs harbored clonal somatic <jats:italic>PIK3CA<\/jats:italic> hotspot mutations in two cases. In the JP with coexisting DCIS and IDC\u2010NST, these lesions were clonally related to the associated JP, sharing a clonal <jats:italic>PIK3CA<\/jats:italic> E542K somatic hotspot mutation. JP showed a paucity of copy number alterations, whereas the associated DCIS and IDC\u2010NST showed concurrent 1q gains\/16q losses, hallmarks of estrogen receptor (ER)\u2010positive breast cancers. We observed JP to harbor a dominant aging\u2010related mutational signature, whereas coexisting DCIS and IDC\u2010NST showed greater exposure to an APOBEC signature. Taken together, our findings suggest that, at least in a subset of cases, JP might constitute the substrate from which DCIS and invasive breast carcinomas develop.<\/jats:p>","DOI":"10.1002\/cjp2.190","type":"journal-article","created":{"date-parts":[[2020,12,2]],"date-time":"2020-12-02T16:54:38Z","timestamp":1606928078000},"page":"113-120","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>Whole\u2010exome<\/scp> sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0464-0868","authenticated-orcid":false,"given":"Timothy M","family":"D'Alfonso","sequence":"first","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fresia","family":"Pareja","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Da Cruz Paula","sequence":"additional","affiliation":[{"name":"Department of Surgery Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahsa","family":"Vahdatinia","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gazzo","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Ferrando","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Genoa  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edaise M","family":"da Silva","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Weill Cornell Medicine  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Sclafani","sequence":"additional","affiliation":[{"name":"Department of Surgery Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarat","family":"Chandarlapaty","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed A","family":"Hoda","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Weill Cornell Medicine  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah Y","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edi","family":"Brogi","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9927-1270","authenticated-orcid":false,"given":"Britta","family":"Weigelt","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2969-3173","authenticated-orcid":false,"given":"Jorge S","family":"Reis\u2010Filho","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-198004010-00001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19820615)49:12<2591::AID-CNCR2820491230>3.0.CO;2-O"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2020.02.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19850315)55:6<1345::AID-CNCR2820550631>3.0.CO;2-B"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/tbj.13092"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-19-2563"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2514"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts271"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.129684.111"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3069"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-018-0023-9"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2018.10.032"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2203"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-04128-5"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy028"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.01.019"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-16-2857"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw520"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.3391"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0390-2"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1200\/PO.19.00103"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14114"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-18-1103"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djv427"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20646"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.26508\/lsa.201900623"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2013.197"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2009.142"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701005104"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101339"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1104017"},{"key":"e_1_2_8_36_1","first-page":"457","article-title":"Juvenile secretory carcinoma and juvenile papillomatosis","volume":"15","author":"Tokunaga M","year":"1985","journal-title":"Jpn J Clin Oncol"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1908"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.32"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0507-7"}],"container-title":["The Journal of Pathology: Clinical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cjp2.190","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cjp2.190","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/pathsocjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cjp2.190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T15:20:46Z","timestamp":1760282446000},"score":1,"resource":{"primary":{"URL":"https:\/\/pathsocjournals.onlinelibrary.wiley.com\/doi\/10.1002\/cjp2.190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,2]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/cjp2.190"],"URL":"https:\/\/doi.org\/10.1002\/cjp2.190","archive":["Portico"],"relation":{},"ISSN":["2056-4538","2056-4538"],"issn-type":[{"value":"2056-4538","type":"print"},{"value":"2056-4538","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,2]]},"assertion":[{"value":"2020-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}