Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality.

D G Evans,K U Tharmaratnam,A J Maxwell,Y Lim,E Hurley,M Wilson,P Moller,M M Holmen,A Howell,A I Hagen,E F Harkness

doi:10.1186/s13053-016-0048-3

D G Evans, K U Tharmaratnam + Show 9 more

Open Access

https://doi.org/10.1186/s13053-016-0048-3

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Abstract

BackgroundThe addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast cancer. However, survival data from BRCA2 mutation carriers undergoing intensive combined breast screening are scarce.MethodsWe have collated the results of screening with either annual mammography or mammography with MRI in female BRCA2 mutation carriers in Manchester and Oslo and use a Manchester control group of BRCA2 mutation carriers who had their first breast cancer diagnosed without intensive screening.ResultsEighty-seven BRCA2 mutation carriers had undergone combined (n = 34) or mammography (n = 53) screening compared to 274 without such intensive screening. Ten year breast cancer specific survival was 100 % in the combined group (95 % CI 82.5–100 %) and 85.5 % (95 % CI 72.6–98.4 %) in the mammography group compared to 74.6 % (95 % CI 66.6–82.6 %) in the control group. Better survival was driven by lymph node status (negative in 67 % of screened vs 39 % of unscreened women; p < 0.001) and a significantly greater proportion of intensively screened women had invasive breast cancers <2 cm at diagnosis (74.6 % vs 50.4 %; p = 0.002).ConclusionIntensive combined breast cancer screening with annual MRI and mammography appears to improve survival from breast cancer in BRCA2 mutation carriers. Data from larger groups are required to confirm the effectiveness of combined screening in BRCA2 carriers.

Highlights

The addition of annual Magnetic Resonance Imaging (MRI) screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast cancer
Caused by genes involved in homologous DNA repair, breast cancers caused by BRCA1 and BRCA2 mutations appear to be rather different diseases
We previously reported that the outcome of early diagnosis with mammography and MRI for carriers of pathogenic BRCA1 mutations [16] was not as good as was hoped for

Summary

Introduction

The addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast cancer. High penetrance inherited breast cancer is mainly caused by pathogenic mutations in the BRCA1 and BRCA2 genes. When these genes were identified, it soon became clear that breast cancer in women with. Magnetic Resonance Imaging (MRI) was advised to improve early diagnosis, and with resultant downstaging of tumours at diagnosis being demonstrated [8,9,10,11,12] This lead to hope for improved survival [13] based on projection of observations of tumours in patients without demonstrated BRCA1 mutations, assuming that their biology and response to treatment were similar. A validation of this hope based on empirical observed outcome of MRI screening in BRCA1 carriers is, still lacking - besides a few reports indicating that it may not be the case [14, 15]

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