ArticleResearch square2026
Familial Disclosure and Cascade Testing in High-Risk Families is Influenced by Gene Variant Penetrance: Implications for Family based Breast Cancer Prevention.
Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
8 authors.
Funding
Abstract
Background and Methods: Point of care genetic testing has grown but cascade testing of At-Risk Relatives (ARR) remains underutilized. Between July and September 2023, we surveyed 912 individuals enrolled in the Cancer Prone Study, a registry of diverse high-risk families who received genetic counseling from cancer genetic experts. We analyzed correlates of familial disclosure and cascade testing among carriers of pathogenic/likely pathogenic variants (PV). Data on carrier status of PV in cancer-predisposing genes, penetrance level of variants, receipt of a family letter, familial disclosure, and follow up cascade testing of ARRs were collected. Results: Of 912 respondents, 39.4% were carriers of PV. Among these carriers, 78% had highly penetrant PVs (most common genes were
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