Abstract

Family history of breast cancer is a key risk factor, accounting for up to 10% of cancers. We evaluated the proactive assessment of familial breast cancer (FBC) risk in primary care. Eligible women (30 to 60 years) were recruited from eight English general practices. Practices were trained on FBC risk assessment. In four randomly-assigned practices, women were invited to complete a validated, postal family history questionnaire, which practice staff inputted into decision support software to determine cancer risk. Those with increased risk were offered specialist referral. Usual care was observed in the other four practices. In intervention practices, 1127/7012 women (16.1%) returned family history questionnaires, comprising 1105 (98%) self-reported white ethnicity and 446 (39.6%) educated to University undergraduate or equivalent qualification, with 119 (10.6%) identified at increased breast cancer risk and offered referral. Sixty-seven (56%) women recommended referral were less than 50 years old. From 66 women attending specialists, 26 (39.4%) were confirmed to have high risk and recommended annual surveillance (40–60 years) and surgical prevention; while 30 (45.5%) were confirmed at moderate risk, with 19 offered annual surveillance (40–50 years). The remaining 10 (15.2%) managed in primary care. None were recommended chemoprevention. In usual care practices, only ten women consulted with concerns about breast cancer family history. This study demonstrated proactive risk assessment in primary care enables accurate identification of women, including many younger women, at increased risk of breast cancer. To improve generalisability across the population, more active methods of engagement need to be explored.Trial registration: CRUK Clinical Trials Database 11779.

Highlights

  • Breast cancer is the commonest cancer in women in most countries [1], accounting for 30% of all cancers in women, with a lifetime risk of up to one in eight [2]

  • This study has found proactive invitation and decision support in primary care enabled the accurate identification of women, including many younger women, at significantly increased risk of breast cancer

  • 16% of eligible women provided their family history information and over 10% of them were newly identified, by decision support in primary care, at increased familial breast cancer risk with specialist referral recommended

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Summary

Introduction

Breast cancer is the commonest cancer in women in most countries [1], accounting for 30% of all cancers in women, with a lifetime risk of up to one in eight [2]. Women diagnosed at an early stage have a 5-year survival rate of 92% compared to 13% of women presenting at stage IV [3]. Not routinely offered screening, may present symptomatically with cancer at a later stage, with greater years of life lost [4,5,6]. This is associated with greater mortality in younger women diagnosed with breast cancer [7]. These younger women are more likely to have a genetic mutation and contralateral breast cancer [8, 9]

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