Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

Early-onset breast cancer is the most common malignancy in women with Li-Fraumeni syndrome, caused by germline TP53 pathogenic variants. It has repeatedly been suggested that breast tumors from TP53 carriers are more likely to be HER2+ than those of non-carriers, but this information has not been in...

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Udgivet i:Hum Mutat
Main Authors: Fortuno, Cristina, Mester, Jessica, Pesaran, Tina, Weitzel, Jeffrey N., Dolinsky, Jill, Yussuf, Amal, McGoldrick, Kelly, Garber, Judy E., Savage, Sharon A., Khincha, Payal P., Evans, D. Gareth, Achatz, Maria Isabel, Nichols, Kim E., Maxwell, Kara, Schiffman, Joshua D., Sandoval, Renata, James, Paul A., Spurdle, Amanda B.
Format: Artigo
Sprog:Inglês
Udgivet: 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7484289/
https://ncbi.nlm.nih.gov/pubmed/32485079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24060
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