A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

Int J Mol Sci. 2021 Jan 17;22(2):889. doi: 10.3390/ijms22020889.


The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 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 BRCA1 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.

Keywords: Chinese; Fanconi anemia; compound heterozygous mutations; hereditary breast cancer.

Publication types

  • Case Reports

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA1 Protein / metabolism
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / metabolism
  • Fanconi Anemia / genetics
  • Female
  • Genes, BRCA1
  • Genetic Predisposition to Disease
  • Germ Cells
  • Germ-Line Mutation
  • Heterozygote
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / metabolism
  • Pedigree


  • BRCA1 Protein
  • BRCA1 protein, human