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More on breast cancer guidelines CMAJ 1998;158:1429 See response from: M. McGregor We were pleased to see the publication of this supplement. However, we were disappointed that although the guideline "The palpable breast lump: information and recommendations to assist decision-making when a breast lump is detected" (CMAJ 1998;158[3 Suppl]:S3-8 [full text / text complet]) mentioned strong family history among the factors that increase the likelihood of breast cancer (level III evidence), nowhere else in the document was there any discussion of the recently discovered breast cancer susceptibility genes. It is now known that mutations in 2 recently identified genes, BRCA1 and BRCA2, confer a risk of breast cancer. Mutations in these genes appear to account for 5% to 10% of all cases of breast cancer. Identification of such mutations provides important information about the risk of additional neoplasms in the affected individual and other family members. This risk includes the association of breast cancer with ovarian cancer in predisposed families and the risk of breast cancer among male members of these families. Furthermore, in some families with familial breast and ovarian cancer, there could be increased predisposition to colerectal cancer.1 The guidelines document also indicates that the risk of breast cancer increases with age. In 1997 in Canada the cumulative risk of breast cancer was approximately 11% by age 70 years.2 This risk is much higher in families known to carry one of the mutant alleles. The cumulative risk for women carrying BRCA1 mutations may be as high as 85% by age 70 years.3 The Cancer Genetics Studies Con-sortium recently published its recommendations for follow-up care of people with an inherited predisposition to breast cancer because of mutant genes.4 The consortium concluded that identifying people with the relevant mutations is a necessary first step in improving prevention and treatment. Early breast and ovarian cancer screening was recommended for people with BRCA1 mutations and early breast cancer screening for those with BRCA2 mutations. The management of breast cancer should surely include its prevention among high-risk individuals. We suggest that the steering committee seek the advice and involvement of the genetic community for the next version of these guidelines.
Bassam A. Nassar, PhD, MB, BCh References
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