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Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk

8 Jun 2020

Abstract excerpt

PURPOSE Women with a family history of breast cancer are frequently referred for hereditary cancer genetic testing, yet < 10% are found to have pathogenic variants in known breast cancer susceptibility genes. Large-scale genotyping studies have identified common variants (primarily single-nucleotide polymorphisms [SNPs]) with individually modest breast cancer risk that, in aggregate, account for considerable...

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PMID: 32923876
DOI: 10.1200/po.19.00360

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