The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times

Approximately 30–50% of hereditary breast and ovarian cancer (HBOC) is due to the presence of germline pathogenic variants in the BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) onco-suppressor genes, which are involved in DNA damage response. Women who carry pathogenic BRCA1 variants are particularly l...

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Detalles Bibliográficos
Autores principales: Aretini, Paolo, Presciuttini, Silvano, Pastore, Aldo, Galli, Alvaro, Panepinto, Sara, Tancredi, Mariella, Ghilli, Matteo, Guglielmi, Chiara, Sidoti, Diletta, Congregati, Caterina, Caligo, Maria Adelaide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648645/
https://www.ncbi.nlm.nih.gov/pubmed/37958491
http://dx.doi.org/10.3390/ijms242115507

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