Male youth perspectives on a pre-visit mobile health app for sexual and reproductive health and care.

Hereditary cancer syndromes account for approximately 5–15% of all cancer diagnoses and encompass diverse genetic conditions characterized by significantly elevated lifetime cancer risk [–]. Inheritance is autosomal dominant for most of these conditions, implying high cancer risks for successive generations []. Key examples of high-penetrance conditions are hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS), which contribute to a significant portion of common cancers (e.g., breast, colorectal, endometrial, prostate) and cancers often diagnosed at advanced stages (e.g., pancreatic, ovarian) [, ]. Advances in genetic testing technology and broader testing criteria have increased the number of patients with cancer found to carry a germline pathogenic/likely pathogenic variant (GPV) in a cancer predisposition gene. Systematic cascade genetic testing of at-risk relatives can lead to the identification of a growing number of unaffected individuals who are also carriers of the familial GPV and therefore eligible for guideline-recommended enhanced cancer risk management []. Genetic predisposition to cancer marks the initiation of lifelong comprehensive care, involving intensive cancer surveillance and/or risk reduction strategies []. Access to imaging, risk-reducing surgeries, and preventive medication has increased the life expectancy of GPV carriers. For example, annual magnetic resonance imaging (MRI) surveillance among females with a GPV in the gene has been associated with an approximately 80% lower breast cancer-specific mortality compared with those not undergoing MRI (the majority of the non-MRI group underwent at least one mammogram) []. International guidelines emphasize proactive, gene-specific surveillance and risk-reducing strategies for GPV carriers, highlighting the critical importance of early detection of premalignant and malignant lesions and of adapting care as guidelines evolve []. Evaluating whether GPV carriers receive guideline concordant care is essential for improving cancer-related outcomes []. Currently, studies show substantial care gaps. For example, in the USA, 35%–40% of individuals with an HBOC- or LS-associated GPV lack risk-appropriate surveillance [–], resulting in delayed diagnoses and poorer outcomes. Comparable findings have been reported in Europe, where despite universal health insurance coverage, 30%–40% of carriers receive inadequate surveillance [–], and up to 20% receive no surveillance at all []. These estimates are likely understated, as variations in how surveillance is measured and reported, including underdiagnosis and undertreatment (missed or delayed recommended surveillance), and overdiagnosis and overtreatment (screening or procedures performed more frequently or earlier than recommended), underestimate the true extent of care gaps. Most national guidelines are informed by international frameworks, such as the National Comprehensive Cancer Network (NCCN) in the USA, the European Society of Medical Oncology (ESMO), the European Reference Network for Genetic Tumor Risk Syndromes (ERN GENTURIS), eviQ in Australia, or the National Institute for Health and Care Excellence (NICE) in the UK. However, each country adapts recommendations to its population risk profile(s) and healthcare resources. Cultural values and the acceptability of interventions further influence how risk is communicated, how surveillance and preventive surgeries are perceived, and how guidelines are interpreted and implemented across countries. Consequently, the type, timing, and accessibility of surveillance and preventive options can vary, even within relatively unified regions []. These differences complicate cross-national comparisons regarding access to surveillance and prevention methods, compliance with national guidelines, the evaluation of long-term impact on cancer prevention, and the development of effective and culturally informed care models. Without a systematic approach to integrating actionable genetic findings into clinical practice, opportunities for prevention, early detection, and education of at-risk individuals are too often missed.