PURPOSE: The strength of the association between ductal carcinoma in situ (DCIS) and BRCA mutations has not been defined. EXPERIMENTAL DESIGN: Mutation frequency was compared in three groups: (1) a prevalent series of women with DCIS, (2) an incident series of women with DCIS, and (3) a clinic-based series of women with DCIS referred for hereditary cancer risk assessment. In groups 1 and 2, limited to Ashkenazi Jewish (AJ) cases, mutation frequency was compared with that in age-matched AJ controls with invasive breast cancer (IBC). RESULTS: In group 1, 3 of 62 (4.8%) women with DCIS and 15 of 130 (11.5%) controls with IBC had BRCA mutations. In group 2, 0 of 58 (0%) women with DCIS and 6 of 116 (5.2%) controls with IBC had BRCA mutations [combined odds ratios (OR) in groups 1 and 2: 3.64, 95% confidence interval (95% CI), 1.06-12.46; P=0.04]. In group 3, deleterious mutations were identified in 10 of 79 (12.7%) probands with DCIS, similar to the frequency in IBC probands. In group 3, mutations were associated with family history of ovarian cancer (OR, 13.35; 95% CI, 2.48-71.94; P=0.003) or early onset breast cancer (OR, 16.23; 95% CI, 1.68-157.01; P=0.02) but not with AJ ethnicity or age at diagnosis. CONCLUSIONS: BRCA mutations were less frequent in women with DCIS not selected for family history or age at diagnosis than in women with IBC. Nonetheless, mutations were found in a significant proportion of women with DCIS who presented for hereditary risk assessment.
PURPOSE: The strength of the association between ductal carcinoma in situ (DCIS) and BRCA mutations has not been defined. EXPERIMENTAL DESIGN: Mutation frequency was compared in three groups: (1) a prevalent series of women with DCIS, (2) an incident series of women with DCIS, and (3) a clinic-based series of women with DCIS referred for hereditary cancer risk assessment. In groups 1 and 2, limited to Ashkenazi Jewish (AJ) cases, mutation frequency was compared with that in age-matched AJ controls with invasive breast cancer (IBC). RESULTS: In group 1, 3 of 62 (4.8%) women with DCIS and 15 of 130 (11.5%) controls with IBC had BRCA mutations. In group 2, 0 of 58 (0%) women with DCIS and 6 of 116 (5.2%) controls with IBC had BRCA mutations [combined odds ratios (OR) in groups 1 and 2: 3.64, 95% confidence interval (95% CI), 1.06-12.46; P=0.04]. In group 3, deleterious mutations were identified in 10 of 79 (12.7%) probands with DCIS, similar to the frequency in IBC probands. In group 3, mutations were associated with family history of ovarian cancer (OR, 13.35; 95% CI, 2.48-71.94; P=0.003) or early onset breast cancer (OR, 16.23; 95% CI, 1.68-157.01; P=0.02) but not with AJ ethnicity or age at diagnosis. CONCLUSIONS:BRCA mutations were less frequent in women with DCIS not selected for family history or age at diagnosis than in women with IBC. Nonetheless, mutations were found in a significant proportion of women with DCIS who presented for hereditary risk assessment.
Authors: Soley Bayraktar; Nisreen Elsayegh; Angelica M Gutierrez Barrera; Heather Lin; Henry Kuerer; Tunc Tasbas; Kimberly I Muse; Kaylene Ready; Jennifer Litton; Funda Meric-Bernstam; Gabriel N Hortobagyi; Constance T Albarracin; Banu Arun Journal: Cancer Date: 2011-08-25 Impact factor: 6.860
Authors: Ava Kwong; L P Wong; H N Wong; F B F Law; E K O Ng; Y H Tang; W K Chan; D T K Suen; C Choi; L S Ho; K H Kwan; M Poon; T T Wong; K Chan; S W W Chan; M W L Ying; W C Chan; E S K Ma; J M Ford; D W West Journal: Hugo J Date: 2010-04-10
Authors: Concetta Crisafulli; Petronilla Daniela Romeo; Marco Calabrò; Ludovica Martina Epasto; Saverio Alberti Journal: Cancer Drug Resist Date: 2019-06-19