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

ConclusionOur data expand the clinical spectrum associated with biallelicBRCA1 mutations, ranging from embryonic lethality to a mild FA ‐like phenotype and no chromosome fragility.

Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Katharina Keupp, Stephanie Hampp, Annette H übbel, Monika Maringa, Sarah Kostezka, Kerstin Rhiem, Anke Waha, Barbara Wappenschmidt, Roser Pujol, Jordi Surrallés, Rita K. Schmutzler, Lisa Wiesmüller, Eric Hahnen Tags: ORIGINAL ARTICLE Source Type: research