Purpose To describe imaging findings, detection rates and tumor characteristics of breast cancers in a large series of patients with BRCA1 and BRCA2 mutations to potentially streamline screening strategies. Methods An IRB-approved, HIPAA-compliant retrospective analysis of 496 BRCA mutation carriers diagnosed with breast carcinoma from 1999-2013 was performed. Institutional database and electronic medical records were reviewed for mammography and MRI imaging. Patient and tumor characteristics including age at diagnosis, tumor histology, grade, receptor and nodal status were recorded. Results Tumors in BRCA1 mutation carriers exhibited significantly higher nuclear and histological grade compared to BRCA2 (p<0.001). Triple-negative tumors were more frequent in BRCA1 mutation carriers, whereas hormone receptor positive tumors were more frequent in BRCA2 mutation carriers (p<0.001). BRCA2 mutation carriers more frequently presented with ductal carcinoma in situ (DCIS) alone 14% (35/246) and cancers more frequently exhibiting calcifications (p<0.001). Mammography detected fewer cancers in BRCA1 mutation carriers compared to BRCA2 (p=0.04): 81% (186/231) BRCA1 vs. 89% (212/237) BRCA2. MRI detected 99% cancers in each group. Mammography detected cancer in two patients with false negative MRI (1 invasive cancer, 1 DCIS). Detection rates on both mammography and MRI did not significantly differ for women over 40 years and women below 40 years. Conclusions Breast cancers in BRCA1 mutation carriers are associated with more aggressive tumor characteristics compared to BRCA2 and are less well seen on mammography. Mammography rarely identified cancers not visible on MRI. Thus, the omission of mammography in BRCA1 mutation carriers screened with MRI can be considered.

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Background/Objective: The efficacy of chemoprevention for breast cancer risk reduction has been demonstrated in randomized controlled trials; however, use remains low. We sought to determine whether uptake differed by risk factors, and identify reasons for refusal and termination.Methods: Women seen in a high-risk clinic from 10/2014-6/2017 considered eligible for chemoprevention, (history of LCIS, atypia, family history of breast/ovarian cancer, genetic mutation, or history of chest wall radiation) were retrospectively identified. Breast cancer risk factors were compared among those with and without chemoprevention use, and compliance noted.Results: 1,506 women were identified, 24% with prior/current chemoprevention use. Women ≥50 years of age were more likely to use chemoprevention than women <50 (28% versus 11%, p<0.001). Chemoprevention use by risk factor ranged from 7% to 40%. Having multiple risk factors did not increase use. Significant variation by risk factor was present among women ≥50 years (p<0.001), but not among women <50 years (p=0.1). Among women with a documented discussion regarding chemoprevention (575/1,141), fear of side effects was the most common refusal reason (57/156; 36%). The majority of women (61%) who initiated chemoprevention completed 5 years. Conclusion:Chemoprevention use among women at increased risk for breast cancer remains low, with more frequent use among women ≥50 years. These data highlight the need for ongoing educational efforts and counseling, as the majority who begin therapy complete 5 years of use. Given fear of side effects, and low uptake-particularly among women <50 years-alternative risk-reducing strategies are needed.

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Background Women with a BRCA mutation have significantly elevated breast cancer risk which can be reduced by >90% with bilateral prophylactic mastectomies (BPMs). We sought to compare a cohort of BRCA mutation carriers choosing BPM versus breast surveillance to better elucidate factors that may impact decision making. Methods Women with a BRCA mutation were retrospectively identified from a prospectively maintained database. The surveillance cohort (n=313) consisted of women seen in a high-risk clinic between 2014–2016; the surgery cohort (n=142) consisted of women who underwent BPM between 2010–2016. Clinical and familial factors were compared between the groups. Results Women choosing BPM were more likely to have a BRCA1 than BRCA2 mutation compared to the surveillance group (57% vs 45%, p=0.02) and were less likely to have a personal history of ovarian cancer (10% vs 20%, p=0.01). Women undergoing BPM were more likely to be married (78% vs 62%, p=0.01), to have more children (median 2 vs 1, p<0.001), and to have undergone a prophylactic oophorectomy (61% vs 37%, p<0.001). Women choosing BPM had more first-degree relatives (63% vs 48%, p=0.01) or a sister (23% vs 14%, p=0.02) with a history of breast cancer and were more likely to have a family member with ovarian cancer under age 40 (9% vs 4%, p=0.03). There was no difference in the number of prior breast biopsies or history of atypia/LCIS. Conclusion The decision to undergo BPM appears multifactorial, with gene mutation, family history, and relationships appearing to have the strongest influence on decision making.