Clinical outcome and service implications of screening women at increased breast cancer risk from a family history * G.P.H. Gui a, * , G. Kadayaprath a , N. Darhouse a , J. Self a , A. Ward a , R. A’Hern b , R. Eeles c a Department of Academic Surgery and the Breast Diagnostic Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London SW3 6JJ, United Kingdom b Department of Information Technology and Statistics, Royal Marsden NHS Foundation Trust, Fulham Road, London SW3 6JJ, United Kingdom c Translational Cancer Genetics Team, Institute of Cancer Research and Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, Fulham Road, London SW3 6JJ, United Kingdom Accepted 3 May 2006 Available online 19 June 2006 Abstract Introduction: The value of special screening for women at moderate breast cancer risk with a family history of breast cancer remains con- troversial. Little is known about recall rates, false negative outcomes and the impact on clinical service. Despite this, surveillance pro- grammes within breast units have been established in the United Kingdom. Patients and methods: In our institution, screening of women at moderate (lifetime risk, 17e30%) and high risk (>30%) consisted of annual clinical examination and mammography from the age of 35 years. The active study period ran for four months and each patient was fol- lowed through a further screening cycle (whole study period), providing information on interval cancers and detection at the subsequent screen. Results: One thousand one hundred and thirty-two women attended for their incident screen: 137 at high risk, 803 at moderate risk and 192 at standard risk. The median age at cancer diagnosis in the moderate risk group was 54 (range, 45e68) years and the high-risk group 51 (46e52) years, compared to 63 (45e69) years in the standard risk group. Seven cancers were diagnosed during the four-month active study period. Two patients were diagnosed with interval cancers and eight at the next screen, giving a cancer incidence in the whole study period of 17/1132 (1.5%). Thirteen patients had invasive cancer and four had ductal carcinoma in situ (DCIS) The median invasive tumour size was 15 had (range, 7e28) mm and the median DCIS size was 4 (2e30) mm. 10/13 (76.9%) invasive cancers were 20 mm and 2/13 patients (15.4%) with invasive cancer were lymph node positive. The sensitivity and specificity of mammography were 85.7% and 98.8%, respectively. The mammogram recall rate was 27.6 per 1000. The benign to malignant surgery ratio was 8:17. Conclusion: Screening women at increased breast cancer risk is effective. Early detection and recall rates are comparable to that of older women attending the British National Breast Screening Programme. Ó 2006 Elsevier Ltd. All rights reserved. Keywords: Breast cancer risk; Breast screening; Family history; Breast cancer services Introduction As breast cancer is a common condition, up to one-third of women with a new diagnosis will by chance have a relative with a previous diagnosis of breast cancer. Famil- ial breast cancer due to a high-risk predisposition gene such as BRCA1 or BRCA2 affects only approximately 5% of women with breast cancer. 1,2 Although high-risk breast cancer predisposition genes are uncommon, penetrance is high, with 50e80% of BRCA1 carriers developing the dis- ease. 3e5 The initial risk assessment as to whether a family or an individual carries a high-risk breast cancer predispo- sition gene is determined by the family tree pedigree, tak- ing into account cancer type and age of onset. 6e8 After * This work was given as an oral presentation at the British Association of Surgical Oncology Scientific Meeting at the Royal College of Surgeons of England, 14e15 November 2005. * Corresponding author. Tel.: þ44 20 7808 2783; fax: þ44 20 7808 2673. E-mail address: gerald.gui@rmh.nhs.uk (G.P.H. Gui). 0748-7983/$ - see front matter Ó 2006 Elsevier Ltd. All rights reserved. doi:10.1016/j.ejso.2006.05.002 EJSO 32 (2006) 719e724 www.ejso.com