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

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Abstract

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.

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Authors and Affiliations

  1. Department of Medical and Surgical Sciences for Mother, Child and Adult, Azienda Ospedaliero Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy

    Giovanni Grandi, Martina Caroli, Carlo Alboni & Fabio Facchinetti

  2. Department of Oncology, Haematology and Respiratory Disease, Azienda Ospedaliero- Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy

    Laura Cortesi, Angela Toss & Elena Barbieri

  3. Department of Pathology, Azienda Ospedaliero-Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy

    Laura Botticelli

  4. Azienda Ospedaliero- Universitaria Policlinico, Obstetrics and Gynaecology Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy

    Giovanni Grandi

Authors
  1. Giovanni Grandi
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  2. Martina Caroli
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  3. Carlo Alboni
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  4. Laura Cortesi
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  5. Angela Toss
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  6. Elena Barbieri
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  7. Laura Botticelli
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  8. Fabio Facchinetti
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Contributions

GG: concept, interpretation, manuscript draft, final approval; MC: interpretation, manuscript revise, final approval; CA: study execution, manuscript revise, final approval; LC: interpretation, manuscript revise, final approval; AT: interpretation, manuscript revise, final approval; EB: interpretation, manuscript revise, final approval; LB: study execution, final approval; FF: concept, manuscript revise, interpretation, final approval.

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Correspondence to Giovanni Grandi.

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Grandi, G., Caroli, M., Alboni, C. et al. Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report. Familial Cancer 19, 291–295 (2020). https://doi.org/10.1007/s10689-020-00179-0

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  • DOI: https://doi.org/10.1007/s10689-020-00179-0

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