genetic risk variants
BRCA1/2 Mutations Aren't Equal: Researchers Push for Reduced Penetrance Pathogenic Variant Category
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Researchers worked with two labs to identify 16 consensus lower-risk pathogenic variants and are pushing for greater recognition of such variants.
Ambry Updates Hereditary Cancer Risk Panels With Eye Toward Gene-Disease Validity, Guidelines
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The panels assess genes with strong disease links and clinical management guidelines, but the firm offers limited-evidence genes as an add-on option.
NCCN Adds Prostate Cancer to Genetic Risk Assessment Guidelines
The NCCN also recently updated genetic risk guidelines for colorectal, endometrial, and gastric cancers.
Breast Cancer Study Highlights Germline Genetic Influence on Tumor Subtype, Aggressiveness
Investigators saw relationships between germline epitope burdens in frequently amplified driver genes and immunoediting-related breast cancer features.
All of Us Data Leads to New Genetic Variants, Disease Risk Contributors
A collection of papers has provided a look at findings from the All of Us Research Program's release of 245,388 clinical-grade genome sequences.