Infertility & Cancer
Infertility in men has been linked to increased morbidity, mortality, and a higher risk of developing cancers such as testicular, prostate, and melanoma. Genetic factors, particularly variants in DNA repair genes, are assumed to drive this association. DNA repair mechanisms are crucial both for maintaining genome stability and for enabling spermatogenesis, with disruptions potentially leading to both infertility and cancer. Genes like BRCA1/2, FANCM, and XRCC2 have been implicated in both cancer risk and non-obstructive azoospermia (NOA), highlighting shared molecular pathways. The project aims to explore this association by screening our Male Reproductive Genomics (MERGE) cohort of exomes/genomes from >2,700 infertile men and subsequent molecular analyses. In vitro assays will be established to assess individual variant’s functional relevance. Ultimately, the study seeks to understand the shared molecular mechanisms of male infertility and cancer, and to provide better counselling and care for affected men.

Figure 1. Infertility and its association with increased cancer risk. This project explores the link between infertility and the increased risk of cancer, with a focus on the role of DNA repair mechanisms. It aims to evaluate how disruptions in these critical processes contribute to both infertility and cancer development. Created with BioRender.com.