ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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The trial behind it
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
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 73 citations in OpenAlex.
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- Evidence-based advancements in breast cancer genetic counseling: a review.Breast cancer (Tokyo, Japan) · 2025Pooled it
- Protecting the health of donor-conceived offspring.Familial cancer · 2026Article
- 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
- Older research participants are motivated to receive genetic results for the benefit of younger relatives.European journal of human genetics : EJHG · 2026Article
- Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.Nature health · 2026Article
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
- Using large-scale population-based data to improve disease risk assessment of clinical variants.Nature genetics · 2025Review
- Cohort Profile: Lifepool.International journal of epidemiology · 2025Article
- Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.European journal of human genetics : EJHG · 2025Article
- Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.NPJ genomic medicine · 2025Article
- Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.Breast cancer research and treatment · 2025Article
- Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer.European journal of human genetics : EJHG · 2025Article
- Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.Breast cancer research and treatment · 2025Article
- Reduced Breast and Ovarian Cancer Through Targeted Genetic Testing: Estimates Using the NEEMO Microsimulation Model.Cancers · 2024Article
- Combined population genomic screening for three high-risk conditions in Australia: a modelling study.EClinicalMedicine · 2023Article
- Specialty Care and Counselling about Hereditary Cancer Risk Improves Adherence to Cancer Screening and Prevention in Newfoundland and Labrador Patients withCurrent oncology (Toronto, Ont.) · 2023Article
- Medical and psychosocial outcomes of state-funded population genomic screening.Clinical genetics · 2023Article
- Assessment of a Peer Physician Coaching Partnership Between a Designated Cancer Center Genetics Service and a Community Cancer Network Hospital.JAMA network open · 2023Article
- Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.Journal of the National Cancer Institute · 2023Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe identification of carriers of hereditary breast and ovarian cancer (HBOC) gene variants through family cancer history alone is suboptimal, and most population-based genetic testing studies have been limited to founder mutations in high-risk populations. Here, we determine the clinical utility of identifying actionable variants in a healthy cohort of women.
methodsGermline DNA from a subset of healthy Australian women participating in the lifepool project was screened using an 11-gene custom sequencing panel. Women with clinically actionable results were invited to attend a familial cancer clinic (FCC) for post-test genetic counseling and confirmatory testing. Outcomes measured included the prevalence of pathogenic variants, and the uptake rate of genetic counseling, risk reduction surgery, and cascade testing.
resultsThirty-eight of 5908 women (0.64%) carried a clinically actionable pathogenic variant. Forty-two percent of pathogenic variant carriers did not have a first-degree relative with breast or ovarian cancer and 89% pursued referral to an FCC. Forty-six percent (6/13) of eligible women pursued risk reduction surgery, and the uptake rate of cascade testing averaged 3.3 family members per index case.
conclusionWithin our cohort, HBOC genetic testing was well accepted, and the majority of high-risk gene carriers identified would not meet eligibility criteria for genetic testing based on their existing family history.
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