Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer
Tracy A. O’Mara, Emma J. Crosbie
Abstract
Recent large-scale genetic studies, particularly genome-wide association studies (GWAS), have emphasised the importance of common genetic variation in endometrial cancer susceptibility. Although each of these variants only confer modest effects on endometrial cancer risk, together they are likely to explain a substantial amount of the familial relative risk of the disease. Therefore, methods to combine genetic risk variants, such as polygenic risk scores (PRS) have gained traction as an attractive method for individualised risk prediction and management. Here, we discuss the benefits of a PRS for endometrial cancer and considerations required for clinical implementation.
Topics & Concepts
Endometrial cancerGenome-wide association studyPolygenic risk scoreMedicineGenetic associationDiseaseRisk assessmentOncologyCancerBioinformaticsInternal medicineBiologySingle-nucleotide polymorphismGeneticsGenotypeGeneComputer scienceComputer securityEndometrial and Cervical Cancer TreatmentsCancer-related molecular mechanisms researchOvarian cancer diagnosis and treatment