The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

BACKGROUND: The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for over 50% of the families matching LFS criteria, the lack of TP53 mutation in a si...

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Detalles Bibliográficos
Autores principales: Silva, Amanda G, Krepischi, Ana CV, Pearson, Peter L, Hainaut, Pierre, Rosenberg, Carla, Achatz, Maria Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022048/
https://www.ncbi.nlm.nih.gov/pubmed/24775443
http://dx.doi.org/10.1186/1750-1172-9-63

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