Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2

Crit Rev Oncol Hematol. 2024 Sep:201:104431. doi: 10.1016/j.critrevonc.2024.104431. Epub 2024 Jul 6.

Abstract

Multigene panels can analyze high and moderate/intermediate penetrance genes that predispose to breast cancer (BC), providing an opportunity to identify at-risk individuals within affected families. However, considering the complexity of different pathogenic variants and correlated clinical manifestations, a multidisciplinary team is needed to effectively manage BC. A classification of pathogenic variants included in multigene panels was presented in this narrative review to evaluate their clinical utility in BC. Clinical management was discussed for each category and focused on BC, including available evidence regarding the multidisciplinary and integrated management of patients with BC. The integration of both genetic testing and counseling is required for customized decisions in therapeutic strategies and preventative initiatives, as well as for a defined multidisciplinary approach, considering the continuous evolution of guidelines and research in the field.

Keywords: Breast cancers; clinical management; multigenic panels; pathogenic variants; patient journey.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Breast Neoplasms* / therapy
  • Disease Management
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing* / methods
  • Humans
  • Mutation

Substances

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