BRCA Mutations Implicated In Both Breast And Ductal Carcinoma

NEW YORK (Reuters Health) - The prevalence of BRCA1 and BRCA2 mutations in women with ductal carcinoma in situ (DCIS) is similar to that seen in women with invasive breast cancer, according to a report in the February 23rd issue of the Journal of the American Medical Association.

In fact, DCIS appears to be a part of the breast and ovarian cancer syndrome defined by these mutations, lead author Dr. Elizabeth B. Claus, from Yale University School of Medicine in New Haven, Connecticut, and colleagues note.

The researchers came to these conclusions based on telephone interviews and BRCA mutation testing performed on 369 women who were diagnosed with DCIS between 1994 and 1998.

The prevalence of BRCA1 and BRCA2 mutations in the study group was 0.8% and 2.4%. One DCIS patient was noted to a have mutation in both BRCA1 and BRCA2.

BRCA1 mutation rates in women with invasive breast cancer, according to recent estimates, range from 0.4% to 2.6%. The corresponding rate for BRCA2 is about 1.5%.

Compared with noncarriers, women with a BRCA mutation were more likely to have a family history of breast cancer and a personal history of ovarian cancer. Moreover, BRCA carrier status was associated with breast cancer diagnosis at an earlier age -- for both the patient and for first-degree relatives.

"These findings," the researchers conclude, "suggest that patients with breast cancer with an appropriate personal or family history of breast and/or ovarian cancer should be screened and followed according to high-risk protocols, regardless of whether they are diagnosed with in situ or invasive breast cancer."

Source: JAMA 2005;293:964-969. [ Google search on this article ]

MeSH Headings: Breast Neoplasms : Neoplasms : Neoplasms by Site : Genes, BRCA1 : Diseases

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