Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2

Cells. 2022 Feb 4;11(3):539. doi: 10.3390/cells11030539.


Besides BRCA1 and BRCA2, several other inheritable mutations have been identified that increase ovarian cancer risk. Surgical excision of the fallopian tubes and ovaries reduces ovarian cancer risk, but for some non-BRCA hereditary ovarian cancer mutations the benefit of this intervention is unclear. The fallopian tubes of women with hereditary ovarian cancer mutations provide many insights into the early events of carcinogenesis and process of malignant transformation. Here we review cancer pathogenesis in hereditary cases of ovarian cancer, the occurrence of pre-invasive lesions and occult carcinoma in mutation carriers and their clinical management.

Keywords: ATM; BRCA1; BRCA2; BRIP1; MRE11; NBN; PALB2; RAD50; RAD51; STIC; carcinogenesis; hereditary breast and ovarian cancer syndrome; ovarian cancer pathogenesis; serous tubal intraepithelial carcinoma.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Carcinoma, Ovarian Epithelial
  • Fallopian Tubes
  • Female
  • Humans
  • Mutation / genetics
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / pathology


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human