Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives Article Swipe
Brandie Heald
,
Sara Pirzadeh‐Miller
,
Rachel E. Ellsworth
,
Sarah M. Nielsen
,
Emily M. Russell
,
Peter D. Beitsch
,
Edward D. Esplin
,
Robert L. Nussbaum
,
Daniel Pineda‐Alvarez
,
Allison W. Kurian
,
Heather Hampel
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1093/jnci/djad203
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1093/jnci/djad203
Current guidelines recommend single variant testing in relatives of patients with known pathogenic or likely pathogenic germline variants in cancer predisposition genes. This approach may preclude the use of risk-reducing strategies in family members who have pathogenic or likely pathogenic germline variants in other cancer predisposition genes. Cascade testing using multigene panels was performed in 3696 relatives of 7433 probands. Unexpected pathogenic or likely pathogenic germline variants were identified in 230 (6.2%) relatives, including 144 who were negative for the familial pathogenic or likely pathogenic variant but positive for a pathogenic or likely pathogenic variant in a different gene than the proband and 74 who tested positive for the familial pathogenic or likely pathogenic variant and had an additional pathogenic or likely pathogenic variant in a different gene than the proband. Of the relatives with unexpected pathogenic or likely pathogenic germline variants, 36.3% would have qualified for different or additional cancer screening recommendations. Limiting cascade testing to only the familial pathogenic or likely pathogenic variant would have resulted in missed, actionable findings for a subset of relatives.
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/jnci/djad203
- https://academic.oup.com/jnci/advance-article-pdf/doi/10.1093/jnci/djad203/51771080/djad203.pdf
- OA Status
- hybrid
- Cited By
- 4
- References
- 3
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4387113539
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4387113539Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1093/jnci/djad203Digital Object Identifier
- Title
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Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relativesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
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2023Year of publication
- Publication date
-
2023-09-25Full publication date if available
- Authors
-
Brandie Heald, Sara Pirzadeh‐Miller, Rachel E. Ellsworth, Sarah M. Nielsen, Emily M. Russell, Peter D. Beitsch, Edward D. Esplin, Robert L. Nussbaum, Daniel Pineda‐Alvarez, Allison W. Kurian, Heather HampelList of authors in order
- Landing page
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https://doi.org/10.1093/jnci/djad203Publisher landing page
- PDF URL
-
https://academic.oup.com/jnci/advance-article-pdf/doi/10.1093/jnci/djad203/51771080/djad203.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/jnci/advance-article-pdf/doi/10.1093/jnci/djad203/51771080/djad203.pdfDirect OA link when available
- Concepts
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Proband, Germline, Pathogenic Escherichia coli, Genetics, Pathogenic bacteria, Biology, Gene, Germline mutation, Cancer, Genetic testing, Medicine, Mutation, Virulence, BacteriaTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2025: 2, 2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
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3Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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