BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: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.
Authors: D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman Journal: Am J Hum Genet Date: 1998-03 Impact factor: 11.025
Authors: Banu Arun; Kristen J Vogel; Adriana Lopez; Mike Hernandez; Deann Atchley; Kristine R Broglio; Christopher I Amos; Funda Meric-Bernstam; Henry Kuerer; Gabriel N Hortobagyi; Constance T Albarracin Journal: Cancer Prev Res (Phila) Date: 2009-01-27
Authors: Y Miki; J Swensen; D Shattuck-Eidens; P A Futreal; K Harshman; S Tavtigian; Q Liu; C Cochran; L M Bennett; W Ding Journal: Science Date: 1994-10-07 Impact factor: 47.728
Authors: Karen Lisa Smith; Muriel Adank; Noah Kauff; Kelly Lafaro; Jeff Boyd; Johanna B Lee; Clifford Hudis; Kenneth Offit; Mark Robson Journal: Clin Cancer Res Date: 2007-07-15 Impact factor: 12.531
Authors: Noah D Kauff; Edi Brogi; Lauren Scheuer; Dorothy R Pathak; Patrick I Borgen; Clifford A Hudis; Kenneth Offit; Mark E Robson Journal: Cancer Date: 2003-04-01 Impact factor: 6.860
Authors: Nisreen Elsayegh; Henry M Kuerer; Heather Lin; Angelica M Gutierrez Barrera; Michelle Jackson; Kimberly I Muse; Jennifer K Litton; Constance Albarracin; Aimaz Afrough; Gabriel N Hortobagyi; Banu K Arun Journal: Ann Surg Oncol Date: 2014-05-06 Impact factor: 5.344
Authors: Subrata K Ghosh; Masashi Uchida; Byunghee Yoo; Alana W Ross; Sandra J Gendler; Jianlin Gong; Anna Moore; Zdravka Medarova Journal: Int J Cancer Date: 2012-10-25 Impact factor: 7.396
Authors: Nisreen Elsayegh; Jessica Profato; Angelica M Gutierrez Barrera; Heather Lin; Henry M Kuerer; Can Ardic; Jennifer K Litton; Debasish Tripathy; Banu K Arun Journal: J Cancer Date: 2015-05-23 Impact factor: 4.207
Authors: Nisreen Elsayegh; Angelica M Gutierrez Barrera; Kimberly I Muse; Heather Lin; Henry M Kuerer; Monica Helm; Jennifer K Litton; Banu K Arun Journal: Front Genet Date: 2016-04-27 Impact factor: 4.599