Related Experiment Video
Updated: Apr 10, 2026
06:42
Optimization of Breast Biopsy and Mastectomy Sample Collection Procedures for Biobanking, Personalized Medicine, and Research Applications
Published on: September 2, 2025
748
Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting
Minja Pehrsson1, Eveliina Jakkula2,3, Kimmo Ala-Kulju1
1Helsinki Biobank, Helsinki University Hospital, Helsinki, Finland.
Summary
Screening biobank samples for hereditary breast and ovarian cancer (HBOC) gene variants identified carriers, enabling personalized medicine. Returning these results led to significant clinical management changes and high participant satisfaction.
Area of Science:
- Genomics and Personalized Medicine
- Biobanking and Translational Research
- Preventive Oncology
Background:
- Biobanks offer opportunities for opportunistic screening via genetic data.
- This pilot study assessed screening for pathogenic variants (PVs) in BRCA1, BRCA2, and PALB2 genes linked to hereditary breast and ovarian cancer (HBOC).
Purpose of the Study:
- To evaluate the applicability and impact of screening HBOC-related pathogenic variants from biobank samples.
- To assess participant engagement and perceptions regarding the return of genetic results.
Main Methods:
- Screened PVs in BRCA1, BRCA2, and PALB2 from array-based genotyping data in the FinnGen study, linked to Helsinki Biobank (HBB).
- Validated suspected variants via sequencing and disclosed novel findings to consenting participants (Return of Results - RoR).
- Conducted post-disclosure surveys to gauge participant experiences and perceptions.
Main Results:
- 71% of contacted donors consented to receive HBOC risk results.
- Identified 73 carriers (0.6%) of PVs in BRCA1, BRCA2, or PALB2 among ~11,000 HBB donors; 74% were previously unknown.
- 35% of newly identified female carriers opted for risk-reducing surgery, and 89% experienced changes in clinical management.
Conclusions:
- Returning actionable genetic findings from biobanks offers clear clinical benefits and is well-received by participants.
- Array-based genotyping data from biobank samples is effective for personalized disease-risk screening and preventive medicine.
