Article
The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.
Familial cancer - 1 Jul 2021
Escudeiro Carla, Pinto Carla, Vieira Joana, Peixoto Ana, Pinto Pedro, Pinheiro Manuela, Santos Catarina, Guerra Joana, Lisboa Susana, Santos Rui, Silva João, Leal Conceição, Coimbra Nuno, Lopes Paula, Ferreira Marco, Sousa Ana B, Teixeira Manuel R
Abstract excerpt
Breast cancer is the most frequent event in Li-Fraumeni syndrome associated with germline TP53 variants. Some studies have shown that breast cancers in women with Li-Fraumeni syndrome are commonly HER2-positive, suggesting that HER2 amplification or over-expression in a young woman may be a useful criterion to test for germline variants in the TP53 gene. We assessed the prevalence of germline TP53 variants by...
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