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Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs

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Abstract

Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk relatives, is extremely promising as it offers genetic testing and potentially life-saving risk-reduction strategies to a population exponentially enriched for the risk of carrying a cancer-associated pathogenic variant. However, many relatives do not complete cascade testing due to barriers that span individual, relationship, healthcare community, and societal/policy domains. We have reviewed the published research on cascade testing. Our aim is to evaluate barriers to cascade genetic testing for hereditary cancer syndromes and explore strategies to mitigate these barriers, with the goal of promoting increased uptake of cascade genetic testing.

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Acknowledgements

Melissa K Frey was supported by the following grant: American Association of Obstetricians and Gynecologists Foundation/American Board of Obstetrics & Gynecology (AAOGF/ABOG) Career Development Award.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, HCA Florida Brandon, Brandon, FL, USA

    Rachel Levine

  2. Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Ryan M. Kahn & Effi Yeoshoua

  3. Division of Gynecologic Oncology, Weill Cornell Medicine, New York, NY, USA

    Luiza Perez, Jesse Brewer, Samantha Ratner, Xuan Li & Melissa K. Frey

  4. Genetics and Personalized Cancer Prevention Program, Weill Cornell Medicine, New York, NY, USA

    Melissa K. Frey

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  1. Rachel Levine
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R.L., R.K. M.F, J.B. wrote the main manuscript text, J.B. prepared figure. L.P., S.R., X.L., E.Y. M.F. edited the manuscript. All authors reviewed the manuscript.

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Levine, R., Kahn, R.M., Perez, L. et al. Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs. Familial Cancer (2024). https://doi.org/10.1007/s10689-024-00373-4

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