{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T07:41:51Z","timestamp":1695800511148},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,8,31]],"date-time":"2016-08-31T00:00:00Z","timestamp":1472601600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007186","name":"Jonsson Comprehensive Cancer Center","doi-asserted-by":"publisher","award":["PI: Noah Federman, MD"],"award-info":[{"award-number":["PI: Noah Federman, MD"]}],"id":[{"id":"10.13039\/100007186","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adolescent brothers were diagnosed with testicular germ cell tumors within the same month. Both were found to have multiple renal cysts on pretreatment imaging done for staging. The proband, his brother, and their mother, were all found to have a novel splice variant in intron 8 of the <jats:italic>PKD1<\/jats:italic> gene by clinical exome sequencing. This is the second family reported with both familial testicular germ cell tumor (FTGCT) and autosomal dominant polycystic kidney disease (ADPKD), and the first described association of FTGCT with a splice variant in <jats:italic>PKD1<\/jats:italic>. We suggest that this novel variant in <jats:italic>PKD1<\/jats:italic> may convey increased risk for FTGCT in addition to causing ADPKD.<\/jats:p>","DOI":"10.1002\/pbc.26197","type":"journal-article","created":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T17:08:51Z","timestamp":1472749731000},"page":"100-102","source":"Crossref","is-referenced-by-count":3,"title":["Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with <i>PKD1<\/i> mutation"],"prefix":"10.1002","volume":"64","author":[{"given":"Laurel","family":"Truscott","sequence":"first","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Gell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian Y.","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"},{"name":"UCLA Jonsson Comprehensive Cancer Center University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hane","family":"Lee","sequence":"additional","affiliation":[{"name":"UCLA Clinical Genomics Center University of California  Los Angeles California"},{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel P.","family":"Strom","sequence":"additional","affiliation":[{"name":"UCLA Clinical Genomics Center University of California  Los Angeles California"},{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rex","family":"Pillai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Sisk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian A.","family":"Martinez\u2010Agosto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"},{"name":"UCLA Jonsson Comprehensive Cancer Center University of California  Los Angeles California"},{"name":"UCLA Clinical Genomics Center University of California  Los Angeles California"},{"name":"Department of Human Genetics, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noah","family":"Federman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mattel Children's Hospital at UCLA, David Geffen School of Medicine University of California  Los Angeles California"},{"name":"UCLA Jonsson Comprehensive Cancer Center University of California  Los Angeles California"},{"name":"Department of Orthopaedics, David Geffen School of Medicine University of California  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,31]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/andr.294"},{"issue":"4","key":"e_1_2_8_3_1","first-page":"348","article-title":"Familial testicular cancer: lack of evidence for trinucleotide repeat expansions and association with PKD1 in one family","volume":"36","author":"Teh BT","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870130404"},{"key":"e_1_2_8_5_1","unstructured":"Exome Aggregation Consortium The Broad Institute. 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