Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity

Targeted genetic sequencing was performed on a 41-year-old female with metaplastic breast cancer (MBC) and neurofibromatosis type I (NF1). A custom panel capturing 279 cancer related genes was used to identify a germline pathogenic SNV in NF1, as well several other somatic alterations.

• Type: Case Set
• Archiver: The database of Genotypes and Phenotypes (dbGaP)