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

Katharina KeuppStephanie HamppAnnette HübbelMonika MaringaSarah KostezkaKerstin RhiemAnke WahaBarbara WappenschmidtRoser PujolJordi SurrallésRita K SchmutzlerLisa WiesmüllerEric Hahnen

Published in: Molecular genetics & genomic medicine (2019)

Our data expand the clinical spectrum associated with biallelic BRCA1 mutations, ranging from embryonic lethality to a mild FA-like phenotype and no chromosome fragility.

Keyphrases

early onset
late onset
intellectual disability
breast cancer risk
copy number
chronic kidney disease
case report
electronic health record
big data
dna repair
autism spectrum disorder
gene expression
young adults