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Among donors contacted, most consented to receive hereditary breast and ovarian cancer risk results, with clinically meaningful impacts on management after 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Jakkula2,3, Kimmo Ala-Kulju1, Anu Loukola1, Janita Niemel1, Katja Lfman2, Anna-Kaisa Anttonen2, Tuomo Meretoja4,5, Johanna Mattson6, Maarit Lappalainen7,  \nMinna Pyhnen2,3,8, and Olli Carpn1,9,10  \n|  |  | A |  | B | S |  | T | R |  | A |  | C | T |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |\n| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |\n|  | Background: Genetic data accumulating in biobanks provide novel possibilities for personalized medicine through opportunistic screening. In this pilot study, we evaluated the applicability and impact of screening pathogenic variants (PVs) of BRCA1, BRCA2, and PALB2 genes predisposing to hereditary breast and ovarian cancer (HBOC), from biobank samples.\u003Cbr>Methods: PVs of BRCA1, BRCA2, and PALB2 were screened from array-based genotyping data produced in the FinnGen study and returned to Helsinki Biobank (HBB). Samples with suspected variants were validated by sequencing, and novel findings were disclosed to participants who had consented to return of results (RoR). Post-disclosure surveys were conducted to examine participants’ experiences and perceptions of receiving genetic results.\u003Cbr>Results: Of 103 donors contacted, 71%(n ¼ 73) consented to receiving HBOC risk results. In the cohort of approximately\u003Cbr>􀀶 |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 11,000 HBB donors, 73 carriers of PVs in BRCA1, BRCA2, or PALB2 were identified, representing 0.6% of screened samples. Only 26%(n ¼ 19) of these PVs had been previously identified in healthcare. Among newly identified families, 53%(17/32) met the National Comprehensive Cancer Network criteria for genetic testing. Return of biobank-based screening results led to changes in clinical management in 89%(17/19) of newly identified female PV carriers, with 35% opting for risk-reducing surgery. Survey responses indicated high satisfaction with RoR and perceived personal utility of the information.\u003Cbr>Conclusions: Returning actionable genetic biobank findings provides clear clinical benefit and is supported by donors.\u003Cbr>Impact: Our results demonstrate that array-based genotyping data produced from biobank samples can serve in personalized disease-risk screening and preventive medicine. |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |\n\nIntroduction  \nBiobanks collect biological samples and associated health data to support medical research. When genetic data produced from biobank samples in research projects are returned to biobanks for utilization in further studies, biobanks become a notable source of genetic information. Biobanks can significantly contribute to personalized and preventive medicine, if clinically actionable research results can be efficiently utilized in healthcare.  \n1Helsinki Biobank, Helsinki University Hospital, Helsinki, Finland. 2Clinical Genetics Unit, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland. 3Department of Medical Genetics, U","cbCaide6bNGicPz8","https://ap.wps.com/l/cbCaide6bNGicPz8","pdf",2233100,11,"English","# Background\n# Methods\n# Results\n# Conclusions\n# Impact\n# Introduction","[{\"question\":\"What genetic variants were screened in the hospital biobank setting?\",\"answer\":\"The study screened pathogenic variants in BRCA1, BRCA2, and PALB2 associated with hereditary breast and ovarian cancer.\"},{\"question\":\"How were suspected variants handled after initial screening?\",\"answer\":\"Suspected variants identified from array-based genotyping data were validated by sequencing, and actionable findings were disclosed to participants who had consented to return of results.\"},{\"question\":\"What clinical impact did return of biobank screening results have?\",\"answer\":\"Return of screening results led to changes in clinical management in the vast majority of newly identified female PV carriers, including options such as risk-reducing surgery.\"}]","Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting - Research Findings and Donor Experience | PDF",1790128375,28]