Abstract

Family history of breast and related cancers can indicate increased breast cancer (BC) risk. In national familial breast cancer (FBC) guidelines, the risk is stratified to guide referral decisions. We aimed to identify characteristics associated with the recommendation for referral in a large cohort of women undergoing FBC risk assessment in a recent primary care study. Demographic, family history, psychological and behavioural factors were collected with family history questionnaires, psychological questionnaires and manual data extraction from general practice electronic health records. Participants were women aged 30–60 with no previous history of breast or ovarian cancer. Data from 1127 women were analysed with stepwise logistic regression. Two multivariable logistic models were developed to predict recommendations for referral: using the entire cohort (n = 1127) and in a subgroup with uncertain risks (n = 168). Model performance was assessed by the area under the receiver operating curve (AUC). In all 1127 women, a multivariable model incorporating five family history components (BC aged < 40, bilateral BC, prostate cancer, first degree relative with ovarian cancer, paternal family history of BC) and having a mammogram in the last 3 years, performed well (AUC = 0.86). For the 168 uncertain risk women, only paternal family history of BC remained significant (AUC = 0.71). Clinicians should pay particular attention to these five family history components when assessing FBC risk, especially prostate cancer which is not in the current national guidelines.

Highlights

  • Breast cancer is the most common cancer in women (World Cancer Research Fund 2018)

  • Around 5–10% of breast cancers are caused by an inherited faulty genes such as the BRCA1 and BRCA2 genes (Cancer Research UK 2014; Cancer Research UK 2018a, b)

  • We explored the demographic, family history, psychological and behavioural factors that are associated with the recommendation for specialist referral for familial breast cancer, with the aim to improve primary care decision-making when managing women with family history of breast and related cancers

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Summary

Introduction

Breast cancer is the most common cancer in women (World Cancer Research Fund 2018). One in eight women will develop breast cancer in their lifetime (American Cancer Society 2019; Cancer Research UK 2018a, b). In England, the National Institute for Health and Care Excellence (NICE) guideline for identification and management of familial breast cancer risk includes referral criteria for general practitioners (NICE 2013). Familial breast cancer risk assessment enables primary care clinicians to identify patients who meet the criteria for specialist referral to access further assessment and management, which may include genetic counselling, genetic testing and preventive measures

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