Management of BRCA mutation carriers

Ida Paris, Danilo Di Giorgio, Eleonora Palluzzi, Giorgia Garganese, Daniela Andreina Terribile, Simona Maria Fragomeni, Sabatino D'Archi, Giovanni Scambia, Riccardo Masetti

Research output: Contribution to journalReview article

Abstract

Pathogenic mutations in two autosomal dominant genes, BRCA1 and BRCA2, with high penetrance are supposed to be the cause for an approximated 5-7% risk of all breast cancer (BC) and ovarian cancer (OC). Compared to sporadic BC, BRCA mutated (BRCAmut) BC differs for lifetime risk of onset and sensitivity to systemic therapies. A hereditary BC syndrome should be taken into account when there are numerous relatives with BC early-onset (typically before menopause). Moreover, BRCAmut carriers showed a lifetime possibility of manifesting OC. When a BC diagnosis is made in young patients or in suspicious personal relatives' anamnesis, be aware of being carriers of a BRCA mutation may influence the decision making-process about surgical procedure and prevention strategies. In this review, we examined surgical treatment choice for BRCAmut BC, risk of ipsilateral breast recurrence (IBR) and contralateral breast cancer (CBC). We examined the role of breast-conserving therapy (BCT), risk-reducing mastectomy (RRM) and preventive risk-reducing salpingo-oophorectomy (RRSO) with a special consideration about advantage in terms of mortality reduction for both conservative and prophylactic measures. We also reviewed the sensitivity of mutated BC to platinum-based antineoplastic drugs and poly (ADP-ribose) polymerase inhibitors (PARPi) by emphasizing the results of clinical trials recently published.

Original languageEnglish
Pages (from-to)S329-S338
JournalTranslational Cancer Research
Volume7
DOIs
Publication statusPublished - Apr 1 2018

Fingerprint

Breast Neoplasms
Mutation
Ovarian Neoplasms
Breast
Hereditary Neoplastic Syndromes
Dominant Genes
Penetrance
Mastectomy
Ovariectomy
Menopause
Platinum
Antineoplastic Agents
Decision Making
Therapeutics
Clinical Trials
Recurrence
Mortality

Keywords

  • BRCA mutation
  • Breast cancer (BC)
  • Platinum compounds
  • Poly (ADP-ribose) polymerase inhibitors (PARPi)
  • Risk-reducing surgery

ASJC Scopus subject areas

  • Oncology
  • Radiology Nuclear Medicine and imaging
  • Cancer Research

Cite this

Paris, I., Di Giorgio, D., Palluzzi, E., Garganese, G., Terribile, D. A., Fragomeni, S. M., ... Masetti, R. (2018). Management of BRCA mutation carriers. Translational Cancer Research, 7, S329-S338. https://doi.org/10.21037/tcr.2018.01.23

Management of BRCA mutation carriers. / Paris, Ida; Di Giorgio, Danilo; Palluzzi, Eleonora; Garganese, Giorgia; Terribile, Daniela Andreina; Fragomeni, Simona Maria; D'Archi, Sabatino; Scambia, Giovanni; Masetti, Riccardo.

In: Translational Cancer Research, Vol. 7, 01.04.2018, p. S329-S338.

Research output: Contribution to journalReview article

Paris, I, Di Giorgio, D, Palluzzi, E, Garganese, G, Terribile, DA, Fragomeni, SM, D'Archi, S, Scambia, G & Masetti, R 2018, 'Management of BRCA mutation carriers', Translational Cancer Research, vol. 7, pp. S329-S338. https://doi.org/10.21037/tcr.2018.01.23
Paris I, Di Giorgio D, Palluzzi E, Garganese G, Terribile DA, Fragomeni SM et al. Management of BRCA mutation carriers. Translational Cancer Research. 2018 Apr 1;7:S329-S338. https://doi.org/10.21037/tcr.2018.01.23
Paris, Ida ; Di Giorgio, Danilo ; Palluzzi, Eleonora ; Garganese, Giorgia ; Terribile, Daniela Andreina ; Fragomeni, Simona Maria ; D'Archi, Sabatino ; Scambia, Giovanni ; Masetti, Riccardo. / Management of BRCA mutation carriers. In: Translational Cancer Research. 2018 ; Vol. 7. pp. S329-S338.
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