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DOI 10.1038/s41467-021-24334-y

Медицинская библиотека · Nature communications · 2021

Identification of 22 susceptibility loci associated with testicular germ cell tumors.

Pluta John, Pyle Louise C, Nead Kevin T, Wilf Rona, Li Mingyao, Mitra Nandita, Weathers Benita, D'Andrea Kurt, Almstrup Kristian, Anson-Cartwright Lynn, Benitez Javier, Brown Christopher D, Chanock Stephen, Chen Chu, Cortessis Victoria K, Ferlin Alberto, Foresta Carlo, Gamulin Marija, Gietema Jourik A, Grasso Chiara, Greene Mark H, Grotmol Tom, Hamilton Robert J, Haugen Trine B, Hauser Russ, Hildebrandt Michelle A T, Johnson Matthew E, Karlsson Robert, Kiemeney Lambertus A, Lessel Davor, Lothe Ragnhild A, Loud Jennifer T, Loveday Chey, Martin-Gimeno Paloma, Meijer Coby, Nsengimana Jérémie, Quinn David I, Rafnar Thorunn, Ramdas Shweta, Richiardi Lorenzo, Skotheim Rolf I, Stefansson Kari, Turnbull Clare, Vaughn David J, Wiklund Fredrik, Wu Xifeng, Yang Daphne, Zheng Tongzhang, Wells Andrew D, Grant Struan F A, Rajpert-De Meyts Ewa, Schwartz Stephen M, Bishop D Timothy, McGlynn Katherine A, Kanetsky Peter A, Nathanson Katherine L, Testicular Cancer Consortium

СтатьяПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАПоддержка правительства СШАПеревод в очереди

Аннотация

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 95th 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.

Для цитирования: Pluta John, Pyle Louise C, Nead Kevin T, Wilf Rona, Li Mingyao, Mitra Nandita, Weathers Benita, D'Andrea Kurt, Almstrup Kristian, Anson-Cartwright Lynn, Benitez Javier, Brown Christopher D, Chanock Stephen, Chen Chu, Cortessis Victoria K, Ferlin Alberto, Foresta Carlo, Gamulin Marija, Gietema Jourik A, Grasso Chiara, Greene Mark H, Grotmol Tom, Hamilton Robert J, Haugen Trine B, Hauser Russ, Hildebrandt Michelle A T, Johnson Matthew E, Karlsson Robert, Kiemeney Lambertus A, Lessel Davor, Lothe Ragnhild A, Loud Jennifer T, Loveday Chey, Martin-Gimeno Paloma, Meijer Coby, Nsengimana Jérémie, Quinn David I, Rafnar Thorunn, Ramdas Shweta, Richiardi Lorenzo, Skotheim Rolf I, Stefansson Kari, Turnbull Clare, Vaughn David J, Wiklund Fredrik, Wu Xifeng, Yang Daphne, Zheng Tongzhang, Wells Andrew D, Grant Struan F A, Rajpert-De Meyts Ewa, Schwartz Stephen M, Bishop D Timothy, McGlynn Katherine A, Kanetsky Peter A, Nathanson Katherine L, Testicular Cancer Consortium. Identification of 22 susceptibility loci associated with testicular germ cell tumors.. Nature communications. 2021. DOI: 10.1038/s41467-021-24334-y.

Предметные рубрики MeSH

Cell Line, TumorChromosome MappingGene Regulatory NetworksGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMaleMeta-Analysis as TopicNeoplasms, Germ Cell and EmbryonalPolymorphism, Single NucleotideProtein Interaction MapsTesticular Neoplasms
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