From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion

Li–Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome caused by heterozygous germline mutations in the TP53 gene. Although more than 200 missense and null TP53 mutations are well established as disease-causing, little is known about the pathogenicity and cancer risks associ...

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Detalles Bibliográficos
Autores principales: Quinn, Emily A., Maciaszek, Jamie L., Pinto, Emilia M., Phillips, Aaron H., Berdy, David, Khandwala, Mohammad, Upadhyaya, Santhosh A., Zambetti, Gerard P., Kriwacki, Richard W., Ellison, David W., Nichols, Kim E., Kesserwan, Chimene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672031/
https://www.ncbi.nlm.nih.gov/pubmed/30886117
http://dx.doi.org/10.1101/mcs.a003921

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672031/
https://www.ncbi.nlm.nih.gov/pubmed/30886117
http://dx.doi.org/10.1101/mcs.a003921

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