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DCIS and BRCA 1/2 Study

Elizabeth Claus at Yale University
Study abstract

The role of ductal carcinoma in situ (DCIS) with respect to breast-ovarian cancer syndromes associated with the genes BRCA1 and BRCA2 is unclear. We propose a multi-center, collaborative effort to construct a sample of approximately 175 female BRCA1 and BRCA2 carriers diagnosed with DCIS drawn from a population-based case/control study of DCIS as well as from a number of large high-risk cancer clinics across the United States in an effort to define preliminary estimates of outcome for these women. The goals of this application are: 1) To provide annual and five-year cumulative estimates of ipsilateral and contralateral breast cancer risk, as well as risk of ovarian cancer and death for women diagnosed with DCIS and who have mutations in BRCA1/2, 2) To compare these risks with those for women diagnosed with DCIS and who do not carry mutations in BRCA1 and BRCA2 and those for women not diagnosed with DCIS (controls), 3) To measure and compare the prevalence of pathologic characteristics (estrogen, progesterone, erbB-2, and Ki-67 (MIB-1) receptor positivity as well as tumor size, grade and comedo necrosis) of DCIS diagnosed in women with mutations in BRCA1/2 with those in DCIS patients without such mutations, 4) To present preliminary risk models and clinical guidelines for the management of DCIS in BRCA1 and BRCA2 mutation carriers.

Study review

This study at Yale University, in New Haven, Conn., is examining the DNA of women who have had ductal carcinoma in situ (DCIS) and have the BRCA1 or BRCA2 mutation. The researchers wanted to enroll 200 volunteers. The Call to Action for this study was sent to Army of Women members on January 6, 2010. The researchers were able to close enrollment on January 20, 2012, after the Army of Women had provided them with 200 women who were interested in enrolling in the study.