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Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing

Existing guidance regarding clinically informed germline testing for patients with cancer is effective for evaluation of classic hereditary cancer syndromes and established gene/cancer type associations. However, current screening methods may miss patients with rare, reduced penetrance, or otherwise...

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Detalles Bibliográficos
Autores principales: Tung, Nadine, Dougherty, Kali Chatham, Gatof, Emily Stern, DeLeonardis, Kim, Hogan, Lauren, Tukachinsky, Hanna, Gornstein, Erica, Oxnard, Geoffrey R., McGregor, Kimberly, Keller, Rachel B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421918/
https://www.ncbi.nlm.nih.gov/pubmed/37568048
http://dx.doi.org/10.1038/s41698-023-00429-1