Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report

Fam Cancer. 2020 Oct;19(4):291-295. doi: 10.1007/s10689-020-00179-0. Epub 2020 Apr 24.


Some hereditary ovarian cancer cases can be associated with a mutation of a gene involved in the DNA double-strand break repair system other than BRCA, such as BRIP1. This mutation is an emerging indication for prophylactic risk-reducing salpingo-oophorectomy (RRSO): however, anomalous tubal pathologic lesions have not yet been reported during RRSO performed for this specific indication (BRIP1), as largely reported for BRCA mutation carriers. An asymptomatic 64-year-old woman with a family history of ovarian and breast cancer agreed to undergo RRSO for a pathogenic variant of the BRIP1 gene (heterozygous NM_032043.2: c.124delT, p. Cys42Valfs) with normal BRCA genes. Histological examination showed the presence of high-grade serous carcinoma of the fimbria of the right tube of a maximum diameter of 0.4 cm (final FIGO stage IIB). The pathogenic mechanism that leads to the development of high-grade serous ovarian/fallopian tube cancer in patients with mutations of BRIP1 should be the same as for patients with mutations of BRCA1 and 2. Our case confirms to consider BRIP1 mutation to be sufficient to justify RRSO at 45-50 years old.

Keywords: BRCAness; BRIP1; Double-strand break repair; Hereditary ovarian cancer; Primary carcinoma of the fallopian tube; Risk-reducing salpingo-oophorectomy.

Publication types

  • Case Reports

MeSH terms

  • Asymptomatic Diseases
  • Cystadenocarcinoma, Serous / genetics*
  • Cystadenocarcinoma, Serous / pathology
  • Cystadenocarcinoma, Serous / surgery
  • Fallopian Tube Neoplasms / genetics*
  • Fallopian Tube Neoplasms / pathology
  • Fallopian Tube Neoplasms / surgery
  • Fanconi Anemia Complementation Group Proteins / genetics*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Heterozygote
  • Humans
  • Middle Aged
  • Mutation*
  • Neoplasm Grading
  • RNA Helicases / genetics*
  • Salpingo-oophorectomy


  • Fanconi Anemia Complementation Group Proteins
  • BRIP1 protein, human
  • RNA Helicases