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J Med Genet. 2007 Aug;44(8):481-4. Epub 2007 Mar 16.

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

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  • 1Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.

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 >or=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.

PMID:
17369502
PMCID:
PMC2597938
DOI:
10.1136/jmg.2007.049346
[PubMed - indexed for MEDLINE]
Free PMC Article
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