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A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes. The potential combined effect of these variants on cancer risks is mostly unknown, posing a...

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Detalles Bibliográficos
Autores principales: Colombo, Mara, Mondini, Patrizia, Minenza, Elisa, Foglia, Claudia, Mosconi, Annamaria, Molica, Carmen, Pistola, Lorenza, Ludovini, Vienna, Radice, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072264/
https://www.ncbi.nlm.nih.gov/pubmed/37025588
http://dx.doi.org/10.3389/fonc.2023.1102184