Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.


Background/aim: The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options. The aim of this study was to present data that demonstrate the different levels of actionability for multi-gene panels used in genetic testing of breast cancer patients and their family members.

Materials and methods: We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing. We reviewed positive results in respect of risk estimation and management, cascade family testing, secondary findings and information for treatment decision-making.

Results: A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high, moderate, low and with insufficient evidence for breast cancer risk genes, respectively. Six point seven percent of individuals were double heterozygotes.

Conclusion: Germline findings in 92% of individuals are linked to evidence-based treatment information and risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.

Keywords: Germline testing; NGS; breast cancer; genetic counselling; risk assessment.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Agents / pharmacology
  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor / antagonists & inhibitors
  • Biomarkers, Tumor / genetics
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control
  • Breast Neoplasms, Male / drug therapy
  • Breast Neoplasms, Male / epidemiology*
  • Breast Neoplasms, Male / genetics
  • Breast Neoplasms, Male / prevention & control
  • Clinical Decision-Making / methods
  • DNA Mutational Analysis / standards*
  • Family
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / standards*
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Molecular Targeted Therapy / methods
  • Precision Medicine / methods
  • Precision Medicine / standards
  • Retrospective Studies
  • Risk Assessment / methods
  • Risk Assessment / standards
  • Young Adult


  • Antineoplastic Agents
  • Biomarkers, Tumor