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Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ
Article first published online: 25 AUG 2011
Copyright © 2011 American Cancer Society
Volume 118, Issue 6, pages 1515–1522, 15 March 2012
How to Cite
Bayraktar, S., Elsayegh, N., Gutierrez Barrera, A. M., Lin, H., Kuerer, H., Tasbas, T., Muse, K. I., Ready, K., Litton, J., Meric-Bernstam, F., Hortobagyi, G. N., Albarracin, C. T. and Arun, B. (2012), Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. Cancer, 118: 1515–1522. doi: 10.1002/cncr.26428
- Issue published online: 2 MAR 2012
- Article first published online: 25 AUG 2011
- Manuscript Accepted: 16 JUN 2011
- Manuscript Revised: 15 JUN 2011
- Manuscript Received: 17 MAY 2011
Erratum: Erratum: Bayraktar S, Elsayegh N, Gutierrez Barrera AM, Lin H, Kuerer H, Tasbas T, Muse KI, Ready K, Litton J, Meric-Bernstam F, Hortobagyi GN, Albarracin CT and Arun B. Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. Cancer. 2012;118:1515-22.
Vol. 120, Issue 6, 927, Article first published online: 10 DEC 2013
- ductal carcinoma in situ;
- BRCA 1/2 mutations;
- family history;
- predictive factors
It is unclear whether women with ductal carcinoma in situ (DCIS), like their counterparts with invasive breast cancer, warrant genetic risk assessment and testing on the basis of high-risk variables. The authors of this report identified predictive factors for mutations in the breast cancer-susceptibility genes BRCA1 and BRCA2 in women who were diagnosed with DCIS.
One hundred eighteen women with DCIS who were referred for genetic counseling and underwent genetic testing for BRCA1/BRCA2 mutations between 2003 and 2010 were included in the study. Logistic regression models were fit to determine the associations between potential predictive factors and BRCA status.
Of 118 high-risk women with DCIS, 27% (n = 32) tested positive for BRCA1/BRCA2 mutations. Of those, 10% (n = 12) and 17% (n = 20) had BRCA1 and BRCA2 mutations, respectively. Age, race, and tumor characteristics did not differ between BRCA noncarriers and carriers. In a multivariate logistic model, ≥2 relatives with ovarian cancer (OC) (odds ratio [OR], 8.81; 95% confidence interval [CI], 1.38-56.29; P = .034), and a score ≥10% according to the BRCAPRO mathematical model for calculating the probability that a particular family member carries a germline BRCA mutation (OR, 6.37; 95% CI, 2.23-18.22; P = .0005) remained as independent significant predictors for a BRCA mutation. Fifty-seven percent of mutation carriers but only 25% of noncarriers underwent prophylactic mastectomy(P = .0037). This difference remained significant for patients aged ≤40 years (P = .025).
Women who had DCIS and a family history of OC or who had BRCAPRO scores ≥10% had a high rate of BRCA positivity regardless of age at diagnosis. These findings suggest that high-risk patients with DCIS are appropriate candidates for genetic testing for BRCA mutations in the presence of predictive factors even if they do not have invasive breast cancer. Cancer 2011;. © 2011 American Cancer Society.