High prevalence of loss of Y chromosome in the spermatozoa of young cancer survivors
Preprint
Abstract
Cancer-related genomic instability (GI) may cause genetic alterations in spermatozoa, implying health issues not only in cancer survivors, but also in their children [1, 2]. We therefore studied Loss of Y chromosome (LOY), considered as hallmark of GI [3-15], in spermatozoa and blood from survivors of childhood and testicular cancer (CC, TC), and controls (CTRL). We found that LOY was statistically significantly more frequent in spermatozoa from cancer survivors than in controls (Odds Ratio [OR]=2.2 for CC vs. CTRL and OR=2.4 for TC vs. CTRL). Furthermore, LOY was about an order of magnitude more prevalent in spermatozoa than in blood among 18–53-year-old males within all cohorts. Our findings suggest that LOY in spermatozoa might be a clinically useful marker of GI, reduced fertility and disease predisposition in males. Introducing LOY in spermatozoa as a biomarker opens a new research avenue into disease prevention and the causes and consequences of LOY.Keywords
This publication has 49 references indexed in Scilit:
- Genomic and phenotypic correlates of mosaic loss of chromosome Y in bloodThe American Journal of Human Genetics, 2025
- The influence of lifestyle and biological factors on semen variabilityJournal of Assisted Reproduction and Genetics, 2024
- Loss of Y chromosome in leukocytes can be regarded as a male-specific age predictor for age group estimation in forensic geneticsMolecular Genetics and Genomics, 2023
- Immune cells lacking Y chromosome show dysregulation of autosomal gene expressionCellular and Molecular Life Sciences, 2021
- Sex differences in health and disease: A review of biological sex differences relevant to cancer with a spotlight on gliomaCancer Letters, 2020
- Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer DiseaseThe American Journal of Human Genetics, 2016
- Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic lossHuman Genetics, 2014
- Enigmatic sex disparities in cancer incidenceEuropean Journal of Epidemiology, 2012
- Increased predisposition to cancer in brothers and offspring of testicular tumor patientsPathology and Oncology Research, 2004
- The Relationship of Gonadal Activity and Chemotherapy-Induced Gonadal DamageJAMA, 1988