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Article

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation.

Pediatric blood & cancer - 1 Jan 2017

Truscott Laurel, Gell Joanna, Chang Vivian Y, Lee Hane, Strom Samuel P, Pillai Rex, Sisk Anthony, Martinez-Agosto Julian A, Anderson Martin, Federman Noah

Abstract excerpt

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)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27577987
DOI: 10.1002/pbc.26197
PMCID: PMC5937546

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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