Real-world multi-country study of BRCA1/2 mutation testing among adult women with HER2-negative advanced breast cancer

Future Oncol. 2022 Mar;18(9):1089-1101. doi: 10.2217/fon-2021-1387. Epub 2022 Jan 31.

Abstract

Aim: We assessed real-world patient demographics and BRCA1/2 mutation testing rates among adult women with HER2-negative advanced breast cancer (ABC). Methods: Oncologists across the USA and in France, Germany, Italy, Spain and the UK provided medical chart data in 2015 and 2017. Results: Overall, 28% of patients received BRCA1/2 mutation testing. Untested patients were more likely to be aged ≥45 years, have hormone receptor-positive/HER2-negative ABC and have no known family history of breast/ovarian cancer. BRCA1/2 mutation testing rates were significantly lower in the European countries, women aged ≥45 years, women without a known family history of breast/ovarian cancer, and women with hormone receptor-positive/HER2-negative ABC versus advanced triple-negative breast cancer. Conclusion: BRCA1/2 mutation testing rates were low, and disparities were observed in patient characteristics among BRCA1/2 mutation-tested versus untested patients.

Keywords: BRCA1/2 mutation testing; HER2-negative breast cancer; HR-positive/HER2-negative; PARP inhibitors; TNBC; advanced breast cancer.

Plain language summary

This study investigated the use of BRCA1/2 genetic testing in women with breast cancer in the USA and Europe. This is important, as mutations in this gene are known to influence cancer progression, with many treatments now available for patients with these mutations. Doctors collected data from patient medical records in both 2015 and 2017. The results show the BRCA1/2 testing rates were low, with only 28% of patients tested. Patients who did not have a test were older, had hormone receptor-positive/HER2-negative cancer and did not have a family history of cancer. Testing rates were also lower in Europe than in the USA. Improved BRCA1/2 testing rates could identify patients at risk and aid physicians and their patients in their choice of treatment, improving outcomes.

MeSH terms

  • Adult
  • Age Factors
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Europe
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Medical Records
  • Middle Aged
  • Mutation
  • Receptor, ErbB-2 / genetics*
  • United States

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • Receptor, ErbB-2

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