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Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center

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  • 1Department of Medical Oncology, Hospital Clinic of Barcelona, Barcelona, Spain; Translational Genomics and Targeted Therapies in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain; Facultat de Medicina i Ciències de la Salud, Universitat de Barcelona (UB), Barcelona, Spain. Electronic address: https://twitter.com/AdelaRodrguezH1.

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Germline pathogenic variants (PVs) in breast cancer (BC) patients impact surgical choices and targeted therapies like poly (ADP-ribose) polymerase (PARP) inhibitors. Genetic testing optimizes treatment and prevention strategies for early and advanced BC.

Keywords:
PARP inhibitorsbreast cancergermline testingpathogenic germline variants

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Area of Science:

  • Oncology
  • Genetics
  • Clinical Medicine

Background:

  • Germline pathogenic variants (PVs) are found in 5-10% of breast cancer (BC) patients.
  • These variants influence risk and treatment decisions, including the use of poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi).
  • High-risk genes (BRCA1, BRCA2, PALB2) and moderate-risk genes (CHEK2, ATM) are key considerations.

Purpose of the Study:

  • To evaluate the prevalence of germline PVs in a large cohort of BC patients.
  • To assess the clinical impact of these variants on patient characteristics and treatment decisions.
  • To determine the association between germline PVs and eligibility for PARPi therapy.

Main Methods:

  • Retrospective analysis of 912 BC patients who underwent germline testing (2016-2023).
  • Genetic testing for 14 BC and Lynch syndrome genes using the TruSight Hereditary Cancer Panel.
  • Statistical analysis to correlate germline results with clinical features and PARPi eligibility.

Main Results:

  • 14.1% of patients had a germline PV, most commonly in BRCA2 and BRCA1.
  • PV carriers were younger, more likely to have bilateral or triple-negative BC (TNBC), and diagnosed at higher stages.
  • PVs significantly influenced surgical decisions (mastectomy, salpingo-oophorectomy) and PARPi eligibility in both early and metastatic BC.

Conclusions:

  • Germline PV identification is crucial for optimizing surgical and systemic therapy decisions in BC.
  • Genetic testing enhances patient care by identifying candidates for PARPi therapy.
  • Improved management and prevention strategies are facilitated by understanding germline variant impact.