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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Pubblicato in:Hum Mutat
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online: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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