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Genetic variants exist irrespective of family history or other contributing factors
Lack of appropriate testing remains a barrier for patients eligible for targeted treatment
A well-prepared team meets the distinctive needs of patients at hereditary high risk
Findings support need for personalized disease management
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Pathogenic POLE/POLD1 mutations lead to improved response to immune checkpoint blockade therapy
Patients with genetic mutation need more than ocular treatment
Second case ever reported highlights complexity, rarity
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