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Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
  1. S Sharif1,
  2. A Moran2,
  3. S M Huson3,
  4. R Iddenden2,
  5. A Shenton3,
  6. E Howard3,
  7. D G R Evans3
  1. 1Department of Clinical Genetics, Birmingham Women’s Hospital, Birmingham, UK
  2. 2North West Cancer Intelligence Service, Manchester, UK
  3. 3Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital (SM2), Manchester, UK
  1. 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}


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.

  • NF1, neurofibromatosis 1
  • NWCR, North Western Cancer Registry

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  • Published Online First 16 March 2007

  • Competing interests: None declared.

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