AUTHOR=Landero-Huerta Daniel Adrian , Vigueras-Villaseñor Rosa María , Yokoyama-Rebollar Emiy , García-Andrade Fabiola , Rojas-Castañeda Julio César , Herrera-Montalvo Luis Alonso , Díaz-Chávez José , Pérez-Añorve Isidro Xavier , Aréchaga-Ocampo Elena , Chávez-Saldaña Margarita Dolores 

TITLE=Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes

JOURNAL=Frontiers in Cell and Developmental Biology

VOLUME=8

YEAR=2020

URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2020.00762

DOI=10.3389/fcell.2020.00762

ISSN=2296-634X

ABSTRACT=<p>Allelic variants in genes implicated in the development of testicular germ cell tumor (TGCT) could be present in patients with cryptorchidism (CO). Currently; the mechanisms explaining this relationship are still unknown. In this study the common clinical features in patients with CO and TGCT and 6 variants of <italic>KIT</italic> and <italic>AR</italic> genes associated to TGCT were analyzed. Population analyzed included 328 individuals: 91 patients with CO; 79 with TGCT, 13 of them with previous CO diagnosis, and 158 healthy males. Of the 13 patients with TGCT and history of CO, one patient (7.7%) presented the heterozygous form of the variant rs121913507 and two patients (15.4%) presented homozygote genotype for the variant rs121913506 in <italic>KIT</italic> gene. Interestingly, the heterozygous form for the variant rs121913506 of <italic>KIT</italic> gene was identifying in all of 13 patients. The rs201934623, rs774171864, and rs12014709 variants of the <italic>AR</italic> gene did not show any clinical association. Our results strongly support that genetic component in CO could be conditioning for the development of TGCT. Notably, <italic>KIT</italic> gene variants might be determinants in the pathological association between TGCT and CO.</p>