title: Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.
abstract: 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 PKD1 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 PKD1. We suggest that this novel variant in PKD1 may convey increased risk for FTGCT in addition to causing ADPKD.
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Laurel
authors: L
authors: Truscott
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Joanna
authors: J
authors: Gell
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.|UCLA Jonsson Comprehensive Cancer Center, University of California, Los Angeles, California.
authors: Vivian Y
authors: VY
authors: Chang
authors: UCLA Clinical Genomics Center, University of California, Los Angeles, California.|Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Hane
authors: H
authors: Lee
authors: UCLA Clinical Genomics Center, University of California, Los Angeles, California.|Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Samuel P
authors: SP
authors: Strom
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Rex
authors: R
authors: Pillai
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Anthony
authors: A
authors: Sisk
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.|UCLA Jonsson Comprehensive Cancer Center, University of California, Los Angeles, California.|UCLA Clinical Genomics Center, University of California, Los Angeles, California.|Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Julian A
authors: JA
authors: Martinez-Agosto
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Martin
authors: M
authors: Anderson
authors: Department of Pediatrics, Mattel Children's Hospital at UCLA, David Geffen School of Medicine, University of California, Los Angeles, California.|UCLA Jonsson Comprehensive Cancer Center, University of California, Los Angeles, California.|Department of Orthopaedics, David Geffen School of Medicine, University of California, Los Angeles, California.
authors: Noah
authors: N
authors: Federman
mesh_terms: D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D011379:Prognosis; D050396:TRPP Cation Channels / Q000235:genetics*; D013736:Testicular Neoplasms / Q000150:complications / Q000188:drug therapy / Q000235:genetics*
chemical_list: D050396:TRPP Cation Channels
keywords: PKD1; exome sequencing; familial testicular germ cell tumor