Trial reportJournal of the National Cancer Institute2015
Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.
Open access · bronzeAbstract readComparative StudyRandomized Controlled Trial
In one paragraph
Trial report in Journal of the National Cancer Institute, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 2 pooled it
10.3field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
89 citing papers in PubMed, 2 syntheses or guidelines pooled it, 184 citations in OpenAlex.
- Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Simulation modeling for stratified breast cancer screening - a systematic review of cost and quality of life assumptions.BMC health services research · 2017Pooled it
- Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women.Familial cancer · 2024Trial
- Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.BJOG : an international journal of obstetrics and gynaecology · 2022Trial
- Comparative Analysis ofJCO precision oncology · 2026Article
- Aggressive Right-Sided Colon Cancer in a Young Adult: Triple-Whammy Mutations (POLE, KRAS, BRCA1/2) Highlight Emerging Genetic Associations.ACG case reports journal · 2026Article
- Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.BMC women's health · 2025Article
- Trends in the Utilization ofCurrent oncology (Toronto, Ont.) · 2025Article
- Psychological and behavioural considerations for integrating polygenic risk scores for disease into clinical practice.Nature human behaviour · 2025Review
- Dihydropyrimidine Dehydrogenase Deficiency (DPYD) Genotyping-Guided Fluoropyrimidine-Based Adjuvant Chemotherapy for Breast Cancer. A Cost-Effectiveness Analysis.Clinical drug investigation · 2025Article
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Investigation on the Anxiety and Depression Status of Thalassemia Carriers After Genetic Counseling.Neuropsychiatric disease and treatment · 2025Article
- Economic Evaluation of Population-Based BRCA1 and BRCA2 Testing in Canada.JAMA network open · 2024Article
- The Use of National Cancer Registry Data for Breast Cancer Family History Assessment in Premenopausal Women.Journal of clinical medicine · 2024Article
- Online Provision ofCancers · 2024Article
- Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review.Familial cancer · 2024Article
- Screening and prevention of ovarian cancer.The Medical journal of Australia · 2024Review
- Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.JAMA network open · 2024Article
- A cost-effectiveness analysis of an integrated clinical-radiogenomic screening program for the identification of BRCA 1/2 carriers (e-PROBE study).Scientific reports · 2024Article
- Hereditary cancer testing in a diverse sample across three breast imaging centers.Breast cancer research and treatment · 2024Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 2 institutions in 1 country.
Ranjit ManchandaAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Kelly LoggenbergAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Saskia SandersonAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Matthew BurnellAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Jane WardleAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Sue GesslerAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Lucy SideAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Nyala BalogunAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Rakshit DesaiAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Ajith KumarAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Huw DorkinsAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Yvonne WallisAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Cyril ChapmanAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Rohan TaylorAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Chris JacobsAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Ian TomlinsonAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Alistair McGuireAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Uziel BellerAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Usha MenonAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ).
Ian JacobsAffiliation of authors: Department of Women's Cancer, EGA Institute for Women's Health, University College London, London, UK (RM, KL, MB, SG, LS, NB, RD, UM, IJ); Department of Gynaecological Oncology, St Bartholomew's Hospital, London, UK (RM); Mount Sinai School of Medicine, New York, NY (SS); Behavioral Sciences Unit, Department of Epidemiology and Public Health, University College London, London, UK (JW); Department of Clinical Genetics, North East Thames Regional Genetics Unit, Great Ormond Street Hospital, London, UK (AK); Department of Clinical Genetics, North West Thames Regional Genetics Unit, Northwick Park Hospital, London, UK (HD); West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK (YW); Department of Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK (CC); South West Thames Molecular Genetics Diagnostic Laboratory, St George's Hospital, London, UK (RT); Department of Clinical Genetics, Guy's Hospital, London, UK (CJ); London Research Institute, Cancer Research UK (IT); Department of Health Economics, London School of Economics, London, UK (AM); Department of Gynaecology, Shaare Zedek Medical Center, Jerusalem, Israel (UB); Faculty of Medical and Human Sciences, University of Manchester, Oxford Road, Manchester, UK (IJ). ian.jacobs@manchester.ac.uk.
St Bartholomew's Hospital · GBUniversity College London · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTechnological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages. We directly compared the psychological/quality-of-life consequences of such an approach to family history (FH)-based testing.
methodsIn a randomized controlled trial of BRCA1/2 gene-mutation testing in the Ashkenazi Jewish (AJ) population, we compared testing all participants in the population screening (PS) arm with testing those fulfilling standard FH-based clinical criteria (FH arm). Following a targeted community campaign, AJ participants older than 18 years were recruited by self-referral after pretest genetic counseling. The effects of BRCA1/2 genetic testing on acceptability, psychological impact, and quality-of-life measures were assessed by random effects regression analysis. All statistical tests were two-sided.
resultsOne thousand, one hundred sixty-eight AJ individuals were counseled, 1042 consented, 1034 were randomly assigned (691 women, 343 men), and 1017 were eligible for analysis. Mean age was 54.3 (SD = 14.66) years. Thirteen BRCA1/2 carriers were identified in the PS arm, nine in the FH arm. Five more carriers were detected among FH-negative FH-arm participants following study completion. There were no statistically significant differences between the FH and PS arms at seven days or three months on measures of anxiety, depression, health anxiety, distress, uncertainty, and quality-of-life. Contrast tests indicated that overall anxiety (P = .0001) and uncertainty (P = .005) associated with genetic testing decreased; positive experience scores increased (P = .0001); quality-of-life and health anxiety did not change with time. Overall, 56% of carriers did not fulfill clinical criteria for genetic testing, and the BRCA1/2 prevalence was 2.45%.
conclusionCompared with FH-based testing, population-based genetic testing in Ashkenazi Jews doesn't adversely affect short-term psychological/quality-of-life outcomes and may detect 56% additional BRCA carriers.
Indexed as
Genetic CounselingHeterozygoteMutationQuality of LifeAdultAgedAnxietyBRCA1 ProteinBRCA2 ProteinDecision Support TechniquesDepressionEarly Detection of CancerFemaleFounder EffectGenetic Predisposition to DiseaseHumansBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human
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