Background Genetic testing for BRCA1 and BRCA2 pathogenic variants (PVs) has been available in North West England since 1995. We assessed uptake of pre-symptomatic testing in 1564 families with PVs over a 24.5year follow-up (FU) period.
Methods First-degree relatives (FDRs) in families with BRCA1 or BRCA2 PVs were eligible from date of index family report if unaffected by a relevant cancer and alive at report date. FDRs were censored as not having undergone a pre-symptomatic test at diagnosis of a relevant cancer, date of death, age 93 or 30/03/2019. Time to uptake of pre-symptomatic testing was assessed by Kaplan–Meier curves, by gender and children.
Results 2554 male and 3115 female FDRs were eligible. Overall uptake was 775 (30.3%) in men and 1935 (62.1%) in women. This increased at 15 years to 33.6% and 67.9%, and continued to rise until 24 years (p<0.001). For women, the 29-year to 39-year age group had the highest uptake at 10 years FU (72.5%; p<0.01), whereas the 50-year to 59-year age group was highest in men (37.2%; p<0.01). Women <18 years at the time of familial variant identification had lower initial uptake, but this rose to >80% by 15 years. Uptake was higher in parous women (p<0.001) and in men with daughters (p<0.0001).
Conclusion Uptake of BRCA1/2 pre-symptomatic testing is age, gender and time-dependent, and higher in women with children and men with daughters.
- BRCA 1/2
- pre-symptomatic testing
- genetic register
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Contributors CF interpreted data, drafted and critically revised the manuscript. KB drafted the manuscript. EW and FL critically revised the manuscript. NB, MP and AJW helped in the acquisition of data and critically revised the manuscript. EFH provided the statistical analysis and critically revised the manuscript. DGE was responsible for the study concept and design, acquired, analysed and interpreted data, drafted and revised the manuscript and provided overall supervision.
Funding DGE, EFH, ERW are supported by the all Manchester NIHR Biomedical Research Centre (IS-BRC-1215- 20007).
Competing interests DGE has received travel grants from Astrazeneca.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement Data for this study is stored on a clinical database. Please contact DGE with any queries.
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