A Case Report of Germline Compound Heterozygous Mutations in the Gene of an Ovarian and Breast Cancer Patient.

The germline carrier of the pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.