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

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

Abstract 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.Cy...

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Bibliographic Details
Main Authors: Katharina Keupp, Stephanie Hampp, Annette Hübbel, Monika Maringa, Sarah Kostezka, Kerstin Rhiem, Anke Waha, Barbara Wappenschmidt, Roser Pujol, Jordi Surrallés, Rita K. Schmutzler, Lisa Wiesmüller, Eric Hahnen
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
biallelic BRCA1
early onset breast cancer
Fanconi anemia
p.Arg1699Gln
Online Access:https://doi.org/10.1002/mgg3.863

Internet

https://doi.org/10.1002/mgg3.863

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