Abstract
PurposeWomen at increased familial breast cancer risk have been offered screening starting at an earlier age and increased frequency than national Screening Programmes for over 30 years. There are limited data on longer-term largescale implementation of this approach on cancer diagnosis.MethodsWomen at our institution at ≥ 17% lifetime breast cancer risk have been offered enhanced screening with annual mammography starting at age 35 or 5-years younger than youngest affected relative, with upper age limit 50 for moderate and 60 for high-risk. Breast cancer pathology, stage and receptor status were assessed as well as survival from cancer diagnosis by Kaplan–Meier analysis.ResultsOverall 14,311 women were seen and assessed for breast cancer risk, with 649 breast cancers occurring in 129,119 years follow up (post-prevalent annual incidence = 4.55/1000). Of 323/394 invasive breast cancers occurring whilst on enhanced screening, most were lymph-node negative (72.9%), T1 (≤ 20 mm, 73.2%) and stage-1 (61.4%), 126/394 stage2–4 (32%). 10-year breast cancer specific survival was 91.3% (95% CI 87.4–94.0) better than the 75.9% (95% CI 74.9–77.0) published for England in 2013–2017. As expected, survival was significantly better for women with screen detected cancers (p < 0.001). Ten-year survival was particularly good for those diagnosed ≤ 40 at 93.8% (n = 75; 95% CI 84.2–97.6). Women with lobular breast cancers had worse 10-year survival at 85.9% (95% CI 66.7–94.5). Breast cancer specific survival was good for 119 BRCA1/2 carriers with 20-year survival in BRCA1:91.2% (95% CI 77.8–96.6) and 83.8% (62.6–93.5) for BRCA2.ConclusionsTargeted breast screening in women aged 30–60 years at increased familial risk is associated with good long-term survival that is substantially better than expected from population data.
Highlights
Breast cancer is the most common cancer in females with approximately 54,500 women diagnosed annually in the UK (2016) and remains the leading cause of premature death in women aged 30–60 years [1].A family history risk and prevention clinic (FHRPC) to improve early detection and preventive approaches was established in Manchester in 1987 [2] and was the forerunner to other similar clinics across the UK and in Europe
Detailed study population characteristics are described (Table 1) according to final known genetic status. 736 women (5.1%) have been identified as BRCAPV carriers (BRCA1 = 364, BRCA2 = 372) Table 1. 272 (37.0%) of these were referred into the FHRPC as known pathogenic variants (PVs) carriers unaffected by breast cancer
The majority of breast cancers were detected at stages 0/1 (270/394–68.5%) with only 94/394 (23.5%) interval cancers, seven of which were asymptomatic at bilateral risk-reducing mastectomy (BRRM)
Summary
Breast cancer is the most common cancer in females with approximately 54,500 women diagnosed annually in the UK (2016) and remains the leading cause of premature death in women aged 30–60 years [1].A family history risk and prevention clinic (FHRPC) to improve early detection and preventive approaches was established in Manchester in 1987 [2] and was the forerunner to other similar clinics across the UK and in Europe. In-house [3] and national [4] management guidelines were developed and, in, the UK, endorsed by a series of guidelines by the National Institute for Health and Care Excellence (NICE 2004, 2006, 2013, 2017) [5] in response to clinical developments in risk assessment, genetic testing, screening, preventive therapy and risk reducing surgery. The cloning of BRCA1 and BRCA2 in 1994–1995 [10, 11] allowed predictive testing to identify which women had highest risk. Other high-penetrance breast cancer genes (lifetime-risk > 40%) including TP53, PTEN, CDH1, STK11 and PALB2 have been identified, [12, 13] as well as moderate-risk genes (lifetime-risk 20–30%) ATM and CHEK2 [12]
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