ArticleEuropean journal of human genetics : EJHG2021
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.European journal of medical genetics · 2025Trial
- Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Exploring the somatic mutational landscape of ovarian cancer in Estonia.Acta oncologica (Stockholm, Sweden) · 2026Article
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia.Scientific reports · 2026Article
- Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.Frontiers in genetics · 2026Article
- Biobank participants' perspectives on receiving genetic risk information from a biobank - the case of haemochromatosis.BMC medical genomics · 2025Article
- The Estonian Biobank's journey from biobanking to personalized medicine.Nature communications · 2025Review
- Genomic Screening at a Single Health System.JAMA network open · 2025Article
- Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.Journal of human genetics · 2025Article
- Performance of recommended management among pediatric patients identified through genomic screening.Translational behavioral medicine · 2025Observational
- How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.Journal of community genetics · 2024Article
- Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.European journal of human genetics : EJHG · 2024Article
- Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank.European journal of human genetics : EJHG · 2023Article
- The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.Cancers · 2023Review
- A practical checklist for return of results from genomic research in the European context.European journal of human genetics : EJHG · 2023Article
- Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.European journal of human genetics : EJHG · 2023Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian biobank cohort, we applied a genotype-first approach, contacted carriers, and offered return of results with genetic counseling. We evaluated participants' responses to and the clinical utility of the reporting of actionable genetic findings. Twenty-two of 40 contacted carriers of 17 pathogenic BRCA1/2 variants responded and chose to receive results. Eight of these 22 participants qualified for high-risk assessment based on National Comprehensive Cancer Network criteria. Twenty of 21 counseled participants appreciated being contacted. Relatives of 10 participants underwent cascade screening. Five of 16 eligible female BRCA1/2 variant carriers chose to undergo risk-reducing surgery, and 10 adhered to surveillance recommendations over the 30-month follow-up period. We recommend the return of results to population-based biobank participants; this approach could be viewed as a model for population-wide genetic testing. The genotype-first approach permits the identification of individuals at high risk who would not be identified by application of an approach based on personal and family histories only.
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