Genetics of testicular cancer: a review

Abstract

Purpose of reviewTesticular germ cell tumours (TGCTs) are the most common solid malignant cancer diagnosed in young males and the incidence is increasing. Understanding the genetic basis of this disease will help us to navigate the challenges of early detection, diagnosis, treatment, surveillance, and long-term outcomes for patients.Recent findingsTGCTs are highly heritable. Current understanding of germline risk includes the identification of one moderate-penetrance predisposition gene, checkpoint kinase 2 (CHEK2), and 78 low-to-moderate-risk single nucleotide polymorphisms identified in genome-wide-associated studies, which account for 44% of familial risk. Biomarker research in TGCTs has been challenging for multiple reasons: oncogenesis is complex, actionable mutations are uncommon, clonal evolution unpredictable and tumours can be histologically and molecularly heterogeneous. Three somatic mutations have thus far been identified by DNA exome sequencing, exclusively in seminomas: KIT, KRAS and NRAS. Several genetic markers appear to be associated with risk of TGCT and treatment resistance. TP53 mutations appear to be associated with platinum resistance. MicroRNA expression may be a useful biomarker of residual disease and relapse in future.SummaryThe biology of testicular germ cells tumours is complex, and further research is needed to fully explain the high heritability of these cancers, as well as the molecular signatures which may drive their biological behaviour.

Evaluation of antioxidant enzyme levels, oxidative stress markers and serum prolidase activity in testicular cancer

“…Although it mainly affects young adults, it can also be seen in children and the elderly. However, despite its importance, research on testicular cancer, especially in pediatric cases, has been relatively limited compared to other types of cancer [19].…”

The Impact of KRAS Mutational Status on Long-Term Survival following Liver Resection for Hilar Cholangiocarcinoma

“…KRAS mutation is reportedly associated with poor prognosis in patients with different cancer types [ 21 , 22 , 23 , 24 , 25 , 26 ]. However, mutational data on PHC are few and controversial.…”

New insights on testicular cancer prevalence with novel diagnostic biomarkers and therapeutic approaches

“…Moreover, its prevalence is on the rise across the globe 1 . TC is the most common solid malignant tumor at a young age 2 . In the last years, cases of TC have increased and become more important because of the long‐term effect of both the disease and its treatment throughout a patient's lifetime 3 .…”

“…To a certain degree, this task can be accomplished through the utilization of blood examinations targeting specific markers indicative of neoplastic growth. However, a conclusive determination mandates the meticulous scrutiny of the histopathological composition of a sample, a task entrusted to a specialist pathologist 2,20 . TCs are most effectively categorized through the performance of radical inguinal orchiectomy.…”

“…TCs are most effectively categorized through the performance of radical inguinal orchiectomy. This surgical procedure enables the comprehensive histologic assessment of the entire testicle while also ensuring localized tumor management 2,20 …”