ReviewJournal of clinical oncology : official journal of the American Society of Clinical Oncology2015
Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers.
Review in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Outcomes of patients with HER2-negative metastatic breast cancer after platinum- and non-platinum-based first-line chemotherapy among patients with and without pathogenic germline BRCA1/2 mutations.British journal of cancer · 2022Trial
- Effects of fixation and demineralization on immunohistochemical assessment of canine bone marrow.Veterinary pathology · 2026Article
- Review
- Survival outcomes of metastatic breast cancer patients by germline BRCA1/2 status in a large multicenter real-world database.International journal of cancer · 2023Article
- PMS2-associated Lynch syndrome: Past, present and future.Frontiers in oncology · 2023Review
- Article
- The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.Cancer · 2022Article
- Article
- A review on age-related cancer risks in PTEN hamartoma tumor syndrome.Clinical genetics · 2021Review
- An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example ofCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Article
- The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?European journal of human genetics : EJHG · 2018Article
- No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families.Familial cancer · 2016Article
- BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.Familial cancer · 2016Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
purposeRecommendations for treating patients who carry a BRCA1/2 gene are mainly based on cumulative lifetime risks (CLTRs) of breast cancer determined from retrospective cohorts. These risks vary widely (27% to 88%), and it is important to understand why. We analyzed the effects of methods of risk estimation and bias correction and of population factors on CLTRs in this retrospective clinical cohort of BRCA1/2 carriers. PATIENTS AND
methodsThe following methods to estimate the breast cancer risk of BRCA1/2 carriers were identified from the literature: Kaplan-Meier, frailty, and modified segregation analyses with bias correction consisting of including or excluding index patients combined with including or excluding first-degree relatives (FDRs) or different conditional likelihoods. These were applied to clinical data of BRCA1/2 families derived from our family cancer clinic for whom a simulation was also performed to evaluate the methods. CLTRs and 95% CIs were estimated and compared with the reference CLTRs.
resultsCLTRs ranged from 35% to 83% for BRCA1 and 41% to 86% for BRCA2 carriers at age 70 years width of 95% CIs: 10% to 35% and 13% to 46%, respectively). Relative bias varied from -38% to +16%. Bias correction with inclusion of index patients and untested FDRs gave the smallest bias: +2% (SD, 2%) in BRCA1 and +0.9% (SD, 3.6%) in BRCA2.
conclusionMuch of the variation in breast cancer CLTRs in retrospective clinical BRCA1/2 cohorts is due to the bias-correction method, whereas a smaller part is due to population differences. Kaplan-Meier analyses with bias correction that includes index patients and a proportion of untested FDRs provide suitable CLTRs for carriers counseled in the clinic.
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