Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility

BACKGROUND: Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. We report biallelic BRCA1 mutations c.181T > G (p.Cys61Gly)...

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Publicat a:Mol Genet Genomic Med
Autors principals: Keupp, Katharina, Hampp, Stephanie, Hübbel, Annette, Maringa, Monika, Kostezka, Sarah, Rhiem, Kerstin, Waha, Anke, Wappenschmidt, Barbara, Pujol, Roser, Surrallés, Jordi, Schmutzler, Rita K., Wiesmüller, Lisa, Hahnen, Eric
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732317/
https://ncbi.nlm.nih.gov/pubmed/31347298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.863
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