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August 3, 2005


JAMA. 2005;294(5):553-554. doi:10.1001/jama.294.5.553

To the Editor: The study of the prevalence of BRCA mutations in women diagnosed with ductal carcinoma in situ (DCIS) by Dr Claus and colleagues1 found that 3 (0.8%) and 9 (2.4%) of 369 women with pure DCIS had germ-line BRCA1 or BRCA2 mutations, respectively. Of particular note was 1 woman who at age 37 years was diagnosed with DCIS with comedo necrosis. She had a strong maternal family history of breast and ovarian cancer. This woman carried 2 mutations, 1 each in BRCA1 and BRCA2. The BRCA1 mutation, referred to in this article as W321X, results from a G to A change at nucleotide 1081. The other mutation identified was BRCA2:3398delAAAAG. Both of these mutations are predicted to result in premature termination of the encoded proteins and have been reported in the Breast Cancer Information Core database.2