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Article
| Open AccessIntegrated genomic analysis reveals aberrations in WNT signaling in germ cell tumors of childhood and adolescence
Genomic landscape studies of malignant germ cell tumors (GCTs) that occur in children, adolescents and young adults are limited. Here the authors perform multi-omics profiling of different types of GCTs across the age spectrum from 0–24 years and show that WNT signalling pathway is activated in GCTs and is associated with poor clinical outcomes.
- Lin Xu
- , Joshua L. Pierce
- & James F. Amatruda
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Article
| Open AccessIdentification of 22 susceptibility loci associated with testicular germ cell tumors
Testicular germ cell tumors are highly heritable, and the authors present the largest genome association study, identifying 22 novel loci, which account for a third of those identified to date. Implicated pathways include male germ cell development and differentiation, and chromosomal segregation.
- John Pluta
- , Louise C. Pyle
- & Christian Kubisch
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Article
| Open AccessGenomic landscape of platinum resistant and sensitive testicular cancers
Most testicular germ-cell tumours are exquisitely sensitive to platinum-based chemotherapies, but little is known about why 10% are resistant. Here, the authors explore the potential underlying mechanisms by probing the genomic landscape of platinum-resistant disease.
- Chey Loveday
- , Kevin Litchfield
- & Clare Turnbull
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Article
| Open AccessFunctional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148
Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.
- Jun Fang
- , Jinping Jia
- & Laufey T. Amundadottir
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Article
| Open AccessIdentification of four new susceptibility loci for testicular germ cell tumour
This genome-wide association study identifies four novel risk loci for testicular germ cell tumour, and provides functional correlation between a disease-associated variant and gene expression in patient samples for one of the identified loci.
- Kevin Litchfield
- , Amy Holroyd
- & Clare Turnbull
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Article
| Open AccessWhole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours
Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here, the authors sequence the whole exomes of 42 TGCTs, and characterize the mutational profile of this tumour type.
- Kevin Litchfield
- , Brenda Summersgill
- & Clare Turnbull