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BRCA1 and Medullary Breast Cancer
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To the Editor.According to the American Society of Clinical Oncology recommendations,1 genetic testing for breast cancer should be performed when the a priori probability of finding a mutation is at least 10%. Based on this recommendation, recent articles in JAMA2-3 may affect BRCA1 screening indications, since the observed detection mutation rates are lower than previously thought. The lowest rate can be attributed to the lack of power of the current screening methods, the low prevalence rate of BRCA1 germline mutations in the populations now under study, or both.
The major challenge is to choose between strategies based on the screening of large populations, which are associated with a high sensitivity but a low specificity and a high resulting cost, and strategies based on screening only for specific indications (large families with 4 or more members with breast cancer and/or occurrence of ovarian cancer), which are associated with a higher . . . [Full Text of this Article]
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