Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

BACKGROUND: Colorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch syndrome and familial adenomatous polyposis being the most prevalent forms. Scientific efforts are focused on the discovery of ne...

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Detalles Bibliográficos
Autores principales: Carrera, Sergio, Rodríguez-Martínez, Ana Belén, Garin, Intza, Sarasola, Esther, Martínez, Cristina, Maortua, Hiart, Callejo, Almudena, Ruiz de Lobera, Abigail, Muñoz, Alberto, Miñambres, Nagore, Jiménez-Labaig, Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883939/
https://www.ncbi.nlm.nih.gov/pubmed/36709314
http://dx.doi.org/10.1186/s13053-023-00246-4

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