Identification of 22 susceptibility loci associated with testicular germ cell tumors.
meta_analysis · Level I
Where this comes from
- Record sourced from PubMed, PMID 34301922.
- Also identified by DOI 10.1038/s41467-021-24334-y and PMC identifier 8302763.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with and without TGCT, respectively, for a genome-wide association study. This meta-analysis identifies 22 TGCT susceptibility loci, bringing the total to 78, which account for 44% of disease heritability. Men with a polygenic risk score (PRS) in the 95<sup>th</sup> percentile have a 6.8-fold increased risk of TGCT compared to men with median scores. Among men with independent TGCT risk factors such as cryptorchidism, the PRS may guide screening decisions with the goal of reducing treatment-related complications causing long-term morbidity in survivors. These findings emphasize the interconnected nature of two known pathways that promote TGCT susceptibility: male germ cell development within its somatic niche and regulation of chromosomal division and structure, and implicate an additional biological pathway, mRNA translation.
Medical subject headings
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Neoplasms, Germ Cell and Embryonal
- Polymorphism, Single Nucleotide
- Testicular Neoplasms