ArticleFamilial cancer2017
Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02306096 (SCAN-B), which is not on this map. Cited by 18 papers.
What it found
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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.
SCAN-B: The Sweden Cancerome Analysis Network - Breast Initiative
Who cites it
18 citing papers in PubMed.
- High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study.Breast cancer research and treatment · 2019Trial
- BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.Breast cancer research and treatment · 2018Trial
- Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000.Acta oncologica (Stockholm, Sweden) · 2025Observational
- Prevalence, prognosis, and health care resource utilization in carriers of pathogenic germline variants in BRCA1/2 with incident early-stage breast cancer: a Finnish population-based study.Acta oncologica (Stockholm, Sweden) · 2024Observational
- Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.Genome medicine · 2023Observational
- Real World Data Studies of Antineoplastic Drugs: How Can They Be Improved to Steer Everyday Use in the Clinic?Pragmatic and observational research · 2023Review
- YouTube as an information source on BRCA mutations: implications for patients and professionals.Journal of community genetics · 2022Article
- "It was an important part of my treatment": a qualitative study of Norwegian breast Cancer patients' experiences with mainstreamed genetic testing.Hereditary cancer in clinical practice · 2022Article
- Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway.Familial cancer · 2020Article
- Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.JAMA network open · 2019Article
- Whole genome sequencing of breast cancer.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2019Review
- Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.International journal of cancer · 2019Article
- A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment ofCancer management and research · 2019Review
- Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives.Journal of community genetics · 2018Article
- Improving attendance to genetic counselling services for gynaecological oncology patients.Gynecologic oncology research and practice · 2018Article
- High frequency of pathogenic non-founder germline mutations inHereditary cancer in clinical practice · 2018Article
- Article
- Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.BMC cancer · 2017Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under ideal circumstances, whereas effectiveness refers to its real life performance. To allow for an unbiased and detailed evaluation of efficacy and effectiveness of the Swedish BRCA testing criteria, we retrospectively analyzed a prospectively collected cohort of 273 breast cancer patients from the well-characterized, population-based, single-site All Breast Cancer in Malmö (ABiM) study. The patients were diagnosed with breast cancer during the years 2007 through 2009. Out of 20 mutation carriers identified, 13 fulfilled Swedish criteria at time of diagnosis. Thus, the efficacy of these criteria was 65%. Excluding three patients in whom a mutation was already known at time of diagnosis, only 3/17 had been identified in the clinical routine, corresponding to an effectiveness of 18%. Here we detail the reasons why mutation carriers in our cohort were not detected though routine health care. In conclusion, effectiveness of BRCA testing criteria was much lower than efficacy. Our results indicate that current testing criteria and procedures associated with BRCA1 and BRCA2 testing are insufficient. There is room for improvement of their efficacy, but even more so regarding effectiveness. Clinical BRCA testing routines need to be critically revised.
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