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Published Online First: 16 March 2007. doi:10.1136/jmg.2007.049346
Journal of Medical Genetics 2007;44:481-484
Copyright © 2007 by the BMJ Publishing Group Ltd.

ORIGINAL ARTICLE

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

S Sharif1, A Moran2, S M Huson3, R Iddenden2, A Shenton3, E Howard3, D G R Evans3

1 Department of Clinical Genetics, Birmingham Women’s Hospital, Birmingham, UK
2 North West Cancer Intelligence Service, Manchester, UK
3 Academic 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

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.

Abbreviations: NF1, neurofibromatosis 1; NWCR, North Western Cancer Registry


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This article has been cited by other articles:

  • Thiers, B. H., Sahn, R. E., Callen, J. P. (2009). Cutaneous Manifestations of Internal Malignancy. CA Cancer J Clin 0: caac.20005v1-NA [Abstract] [Full Text]  

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