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Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1550
Abstract: Inherited arrhythmia conditions (IAC) can lead to sudden cardiac death at any age, and relatives of an affected person have up to a 50% chance of inheriting the condition and are at risk for developing…
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Keywords:
arrhythmia conditions;
family communication;
inherited arrhythmia;
approach ... See more keywords
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Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1619
Abstract: Cascade testing for families with BRCA pathogenic variants is important to identify relatives who are carriers. These relatives can benefit from appropriate risk management and preventative strategies arising from an inherited increased risk of breast,…
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Keywords:
anxiety depression;
unaffected relatives;
cancer worry;
cascade testing ... See more keywords
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Published in 2021 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2021.39.15_suppl.10593
Abstract: 10593 Background: We sought to evaluate the feasibility of a Cascade Testing (CT) protocol for family members of probands with actionable germline mutations associated with endometrial or ovarian cancer. Here, we characterize proband compliance with…
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Keywords:
probands contacted;
contacted relatives;
cancer;
cascade testing ... See more keywords
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Published in 2023 at "Preventive medicine"
DOI: 10.2139/ssrn.4355742
Abstract: We sought to determine whether there are racial disparities in cascade testing rates and whether providing testing at no-charge impacts rates in Black and White at-risk-relatives (ARR). Probands with a pathogenic/likely pathogenic germline variant in…
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Keywords:
racial disparities;
charge;
disparities cascade;
cancer predisposition ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.867226
Abstract: Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a retrospective, cross-sectional study comparing cascade genetic testing rates among relatives of probands…
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Keywords:
genetic testing;
proactive probands;
diagnostic probands;
testing among ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.905941
Abstract: Elevated lipoprotein(a) [Lp(a)], a predominantly genetic disorder, is a causal risk factor for atherosclerotic cardiovascular disease (ASCVD) and calcific aortic valvular disease, particularly in patients with familial hypercholesterolemia (FH), a Tier I genomic condition. The…
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Keywords:
models care;
elevated lipoprotein;
risk;
cascade testing ... See more keywords
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Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1109431
Abstract: Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health…
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Keywords:
genetic testing;
cascade genetic;
utility;
three countries ... See more keywords