Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers
Background. While BRCA1/BRCA2 pathogenic sequence variants (PSVs) clearly confer an increased risk for invasive breast cancer, the extent to which these mutant alleles increase DCIS risk is less clear. Objective. To assess the rate of detection over a 5-year period, and MRI imaging features of pure...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | The Breast Journal |
| Online Access: | http://dx.doi.org/10.1155/2022/4317693 |
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| author | Renata Faermann Eitan Friedman Orit Kaidar-Person Jonathan Weidenfeld Malka Brodsky Anat Shalmon Osnat Halshtok Neiman Michael Gotlieb Yael Yagil David Samoocha Dana Madorsky Feldman Miri Sklair-Levy |
| author_facet | Renata Faermann Eitan Friedman Orit Kaidar-Person Jonathan Weidenfeld Malka Brodsky Anat Shalmon Osnat Halshtok Neiman Michael Gotlieb Yael Yagil David Samoocha Dana Madorsky Feldman Miri Sklair-Levy |
| author_sort | Renata Faermann |
| collection | DOAJ |
| description | Background. While BRCA1/BRCA2 pathogenic sequence variants (PSVs) clearly confer an increased risk for invasive breast cancer, the extent to which these mutant alleles increase DCIS risk is less clear. Objective. To assess the rate of detection over a 5-year period, and MRI imaging features of pure noncalcified DCIS in a cohort of Israeli BRCA1/BRCA2 PSV carriers attending a high-risk clinic from 2015 to 2020. Materials and Methods. All female BRCA1/BRCA2 PSV-carriers followed at the Meirav High-risk clinic from 2015 to 2020 were eligible if they underwent semiannual breast imaging (MRI/mammography) and MRI-guided biopsy-proven pure DCIS. Clinical data, pathology information, and imaging characteristics were retrieved from the computerized archiving system. Results. 18/121 (15.2%) participating BRCA1 PSV carriers and 8/81 (10.1%) BRCA2 PSV-carriers who underwent MRI-guided biopsy were diagnosed with DCIS. The median age of BRCA1 carriers and BRCA2 carriers was 49.8 years and 60.6 years, respectively (p=0.55). Negative estrogen-receptor tumors were diagnosed in 13/18 (72%) BRCA1 and 2/8 (25%) BRCA2 PSV carriers (p<0.05). Thirteen (13/18–72%) BRCA1 carriers had intermediate to high-grade or high-grade DCIS compared with 4/8 (50%) of BRCA2 carriers (p=0.03). Over the 5-year study period, 29/1100 (2.6%) BRCA1/BRCA2 PSV carriers were diagnosed with DCIS seen on MRI only. Conclusion. MRI-detected noncalcified DCIS is more frequent in BRCA1 PSV carriers compared with BRCA2 carriers, unlike the BRCA2 predominance in mammography-detected calcified DCIS. BRCA1-related DCIS is diagnosed earlier, more likely to be estrogen receptor-negative and of higher grade compared with BRCA2-related DCIS. Future prospective studies should validate these results and assess the actual impact they might have on clinical management of BRCA PSV carriers. |
| format | Article |
| id | doaj-art-7dc68ee49731443b9eddc59a44b28de5 |
| institution | Kabale University |
| issn | 1524-4741 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Breast Journal |
| spelling | doaj-art-7dc68ee49731443b9eddc59a44b28de52025-02-03T01:22:42ZengWileyThe Breast Journal1524-47412022-01-01202210.1155/2022/4317693Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation CarriersRenata Faermann0Eitan Friedman1Orit Kaidar-Person2Jonathan Weidenfeld3Malka Brodsky4Anat Shalmon5Osnat Halshtok Neiman6Michael Gotlieb7Yael Yagil8David Samoocha9Dana Madorsky Feldman10Miri Sklair-Levy11Meirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicSackler School of MedicineDepartment of PathologyMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicMeirav Center for Women’s Health and High-Risk ClinicBackground. While BRCA1/BRCA2 pathogenic sequence variants (PSVs) clearly confer an increased risk for invasive breast cancer, the extent to which these mutant alleles increase DCIS risk is less clear. Objective. To assess the rate of detection over a 5-year period, and MRI imaging features of pure noncalcified DCIS in a cohort of Israeli BRCA1/BRCA2 PSV carriers attending a high-risk clinic from 2015 to 2020. Materials and Methods. All female BRCA1/BRCA2 PSV-carriers followed at the Meirav High-risk clinic from 2015 to 2020 were eligible if they underwent semiannual breast imaging (MRI/mammography) and MRI-guided biopsy-proven pure DCIS. Clinical data, pathology information, and imaging characteristics were retrieved from the computerized archiving system. Results. 18/121 (15.2%) participating BRCA1 PSV carriers and 8/81 (10.1%) BRCA2 PSV-carriers who underwent MRI-guided biopsy were diagnosed with DCIS. The median age of BRCA1 carriers and BRCA2 carriers was 49.8 years and 60.6 years, respectively (p=0.55). Negative estrogen-receptor tumors were diagnosed in 13/18 (72%) BRCA1 and 2/8 (25%) BRCA2 PSV carriers (p<0.05). Thirteen (13/18–72%) BRCA1 carriers had intermediate to high-grade or high-grade DCIS compared with 4/8 (50%) of BRCA2 carriers (p=0.03). Over the 5-year study period, 29/1100 (2.6%) BRCA1/BRCA2 PSV carriers were diagnosed with DCIS seen on MRI only. Conclusion. MRI-detected noncalcified DCIS is more frequent in BRCA1 PSV carriers compared with BRCA2 carriers, unlike the BRCA2 predominance in mammography-detected calcified DCIS. BRCA1-related DCIS is diagnosed earlier, more likely to be estrogen receptor-negative and of higher grade compared with BRCA2-related DCIS. Future prospective studies should validate these results and assess the actual impact they might have on clinical management of BRCA PSV carriers.http://dx.doi.org/10.1155/2022/4317693 |
| spellingShingle | Renata Faermann Eitan Friedman Orit Kaidar-Person Jonathan Weidenfeld Malka Brodsky Anat Shalmon Osnat Halshtok Neiman Michael Gotlieb Yael Yagil David Samoocha Dana Madorsky Feldman Miri Sklair-Levy Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers The Breast Journal |
| title | Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers |
| title_full | Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers |
| title_fullStr | Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers |
| title_full_unstemmed | Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers |
| title_short | Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers |
| title_sort | ductal carcinoma in situ dcis diagnosed by mri guided biopsy among brca1 brca2 mutation carriers |
| url | http://dx.doi.org/10.1155/2022/4317693 |
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