{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T17:01:30Z","timestamp":1780419690300,"version":"3.54.1"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,9,10]],"date-time":"2018-09-10T00:00:00Z","timestamp":1536537600000},"content-version":"am","delay-in-days":345,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2017,9,30]],"date-time":"2017-09-30T00:00:00Z","timestamp":1506729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000182","name":"U.S. Army Medical Research and Materiel Command","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000182","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000182","name":"Medical Research and Materiel Command","doi-asserted-by":"publisher","award":["W81XWH\u201011\u20101\u20100671"],"award-info":[{"award-number":["W81XWH\u201011\u20101\u20100671"]}],"id":[{"id":"10.13039\/100000182","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>NF1<\/jats:italic> mutations predispose to neurofibromatosis type 1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exome sequencing (WES), targeted genomic DNA based and RNA\u2010based analysis of the <jats:italic>NF1<\/jats:italic> gene. Deleterious <jats:italic>NF1<\/jats:italic> pathogenic variants were identified in each woman. Frameshift mutations because of deletion\/duplication\/complex rearrangement were found in 50% (7\/14) of the cases, nonsense mutations in 21% (3\/14), in\u2010frame splice mutations in 21% (3\/14), and one case of missense mutation (7%, 1\/14). No deleterious mutation was found in the following high\/moderate\u2010penetrance breast cancer genes: <jats:italic>ATM, BRCA1, BRCA2, BARD1, BRIP1, CDH1, CHEK2, FANCC, MRE11A, NBN, PALB2, PTEN, RAD50, RAD51C, TP53,<\/jats:italic> and <jats:italic>STK11<\/jats:italic>. Twenty\u2010five rare or common variants in cancer related genes were discovered and may have contributed to the breast cancers in these individuals. Breast cancer predisposition modifiers in women with NF1 may involve a great variety of molecular and cellular functions.<\/jats:p>","DOI":"10.1002\/gcc.22503","type":"journal-article","created":{"date-parts":[[2017,9,11]],"date-time":"2017-09-11T01:46:46Z","timestamp":1505094406000},"page":"19-27","source":"Crossref","is-referenced-by-count":23,"title":["Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6650-5229","authenticated-orcid":false,"given":"Xia","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Individualized Cancer Management H Lee Moffitt Cancer Center and Research Institute Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie K.","family":"Teer","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Bioinformatics H Lee Moffitt Cancer Center and Research Institute Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee N.","family":"Tousignant","sequence":"additional","affiliation":[{"name":"Cardiology Genetics, GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert M.","family":"Levin","sequence":"additional","affiliation":[{"name":"Biostatistics and Research Epidemiology, Henry Ford Health System Detroit Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Boulware","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Bioinformatics H Lee Moffitt Cancer Center and Research Institute Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhananjay A.","family":"Chitale","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine Henry Ford Hospital Detroit Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon M.","family":"Shaw","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine Henry Ford Hospital Detroit Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihua","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Bioinformatics H Lee Moffitt Cancer Center and Research Institute Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Bioinformatics H Lee Moffitt Cancer Center and Research Institute Tampa Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaishri O.","family":"Blakeley","sequence":"additional","affiliation":[{"name":"The Johns Hopkins Comprehensive Neurofibromatosis Center, Brain cancer program, Johns Hopkins Hospital and Health System Cancer Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria T.","family":"Acosta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurology Gilbert Family Neurofibromatosis Institute, Children's National Health System, George Washington University Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludwine M.","family":"Messiaen","sequence":"additional","affiliation":[{"name":"Department of Genetics The University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce R.","family":"Korf","sequence":"additional","affiliation":[{"name":"Department of Genetics The University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Tainsky","sequence":"additional","affiliation":[{"name":"Molecular Medicine and Genetics Wayne State University Detroit Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,30]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.4172\/2157-7412.1000292"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2015.78"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35560"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35550"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049346"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.65.3576"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.2004088"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1121"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.53"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2016.90"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13058-016-0759-4"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2016.403"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22392"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.4048\/jbc.2015.18.1.97"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1006\/gyno.2002.6757"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-013-2538-6"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/35079107"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11582"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.175"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-08-1757"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/32688"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.22503","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22503","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/am-pdf\/10.1002\/gcc.22503","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:14:22Z","timestamp":1696605262000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,30]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/gcc.22503"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22503","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,30]]}}}