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Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling
  1. Jacek Gronwald1,
  2. Cezary Cybulski1,
  3. Jan Lubinski1,
  4. Steven A Narod2
  1. 1Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Sscsecin, Poland
  2. 2Women’s College Research Institute, University of Toronto, Canada
  1. Correspondence to:
 Dr S A Narod th
 Women’s College Research Institute, 790 Bay Street, 7 Floor, Toronto, Ontario M5G 1N8, Canada; steven.narod{at}

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There is interest in testing the hypothesis that the non-carrier sisters of women with a breast cancer 1 (BRCA1) mutation face a greater than expected risk of breast cancer. Genetic testing on 3568 women with breast cancer under the age of 50 years was performed. These cases were unselected for family history. Genetic testing was offered to 261 sisters of 188 mutation-positive cases. One of 72 mutation-negative sisters was diagnosed with breast cancer. Of the 17 sisters diagnosed with breast cancer, only one was a phenocopy. Thus, we are unable to confirm the hypothesis that the non-carrier sisters of mutation carriers face a risk of breast cancer beyond that of the general population.

In the process of counselling women from families with a known breast cancer 1 (BRCA1) mutation, we often encounter healthy women who are found to have a negative test. This is usually a source of great relief for the woman, and traditionally the genetic counsellor or physician offers the opinion that the residual risk is low—that is, approximately that of women in the general population. In Canada and the USA, the risk to the population is approximately 8% to age 75 years, and in Poland it is about 5%. In a recent paper from the UK, Smith and colleagues suggest that the residual risk is, in fact, much greater than this. They estimate that the risk of breast cancer …

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  • Competing interests: None declared.