Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

Sharif, S; Moran, A; Huson, S M; Iddenden, R; Shenton, A; Howard, E; Evans, D G R

doi:10.1136/jmg.2007.049346

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

¹Department of Clinical Genetics, Birmingham Women’s Hospital, Birmingham, UK
²North West Cancer Intelligence Service, Manchester, UK
³Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital (SM2), Manchester, UK

Correspondence to:  Dr D G R Evans  Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital (SM2), Hathersage Road, Manchester M13 OJH, UK Gareth.evans{at}cmmc.nhs.uk

Received 19 January 2007
Accepted 27 February 2007
Revised 24 February 2007
Published Online First 16 March 2007

Abstract

Background: Malignancy risks in patients with neurofibromatosis 1 (NF1) are increased, but those occurring outside of the nervous system have not been clearly defined.

Aim: To evaluate the risk of breast cancer in women with NF1 in a population-based study.

Methods: The risk of breast cancer in a cohort of 304 women with NF1 aged ⩾20 years was assessed and compared with population risks over the period 1975–2005 using a person-years-at-risk analysis.

Results: There were 14 cases of breast cancers in the follow-up period, yielding a standardised incidence ratio (SIR) of 3.5 (95% CI 1.9 to 5.9). However, six breast cancers occurred in women in their 40s, and the SIR of breast cancer in women aged <50 years was 4.9 (95% CI 2.4 to 8.8).

Interpretation: Women with NF1 aged <50 years have a fivefold risk of breast cancer, are in the moderate risk category and should be considered for mammography from 40 years of age.