Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis

The introduction of next-generation sequencing has resulted in testing multiple genes simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes. PVs with low minor allele frequencies (MAFs) (< 25–35%) are highlighted on germline genetic test reports. In this re...

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Detalles Bibliográficos
Autores principales: Batalini, Felipe, Peacock, Ellie G., Stobie, Lindsey, Robertson, Alison, Garber, Judy, Weitzel, Jeffrey N., Tung, Nadine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749714/
https://www.ncbi.nlm.nih.gov/pubmed/31533767
http://dx.doi.org/10.1186/s13058-019-1193-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749714/
https://www.ncbi.nlm.nih.gov/pubmed/31533767
http://dx.doi.org/10.1186/s13058-019-1193-1

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