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*BRCA1* and *BRCA2* Mutation Carriers
Haydee Ojeda-Fournier, MD; Wendie A. Berg, MD, PhD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Carriers of pathogenic germline BRCA1 or BRCA2 mutations
              • Hereditary breast cancer ± ovarian cancer (HBOC)
              • Benefit from multidisciplinary, individualized medical evaluation and risk management
            • Hereditary breast cancer is attributable to single autosomal dominant hereditary pathogenic gene mutation in either BRCA1 or BRCA2; ~ 5-10% of breast cancer cases; majority diagnosed before age 50
            • Other rarer hereditary gene mutations associated with ↑ breast cancer risk: Li-Fraumeni (TP53), Cowden (PTEN), Peutz-Jeghers (STK11), hereditary diffuse gastric cancer (CDH1), neurofibromatosis-1 (NF-1)

          IMAGING

          • Mammographic Findings

            • Ultrasonographic Findings

              • MR Findings

                • CT Findings

                  • Imaging Recommendations

                    • Image-Guided Biopsy

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Câmara S et al: The Use of Sentinel Lymph Node Biopsy in BRCA1/2 Mutation Carriers Undergoing Prophylactic Mastectomy: A Retrospective Consecutive Case-Series Study. Int J Breast Cancer. 2018:1426369, 2018
                                      2. Evans DG et al: Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 167(3):779-785, 2018
                                      3. Guindalini RS et al: Intensive surveillance with bi-annual dynamic contrast-enhanced magnetic resonance imaging downstages breast cancer in BRCA1 mutation carriers. Clin Cancer Res. ePub, 2018
                                      4. Ko KP et al: The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers. Int J Cancer. 142(11):2263-2272, 2018
                                      5. Kotsopoulos J et al: Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 171(2):421-426, 2018
                                      6. Metcalfe KA et al: The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer. Clin Genet. 93(5):1063-8, 2018
                                      7. Ha SM et al: Association of BRCA mutation types, imaging features, and pathologic findings in patients with breast cancer with BRCA1 and BRCA2 mutations. AJR Am J Roentgenol. 209(4):920-8, 2017
                                      8. Krammer J et al: Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 163(3):565-71, 2017
                                      9. van Zelst JCM et al: Surveillance of women with the BRCA1 or BRCA2 mutation by using biannual automated breast US, MR imaging, and mammography. Radiology. 285(2):376-88, 2017
                                      10. Phi XA et al: Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis. Br J Cancer. 114(6):631-7, 2016
                                      11. Rieder V et al: Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers. Mol Genet Genomic Med. 4(2):172-7, 2016
                                      12. DeLeo MJ 3rd et al: Breast MRI fibroglandular volume and parenchymal enhancement in BRCA1 and BRCA2 mutation carriers before and immediately after risk-reducing salpingo-oophorectomy. AJR Am J Roentgenol. 204(3):669-73, 2015
                                      13. Drooger JC et al: Diagnostic and therapeutic ionizing radiation and the risk of a first and second primary breast cancer, with special attention for BRCA1 and BRCA2 mutation carriers: a critical review of the literature. Cancer Treat Rev. 41(2):187-96, 2015
                                      14. Manchanda R et al: Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing. J Natl Cancer Inst. 107(1):380, 2015
                                      15. Menes TS et al: Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry. Breast Cancer Res Treat. 151(3):653-60, 2015
                                      16. Yang RL et al: DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3. J Transl Med. 13:335, 2015
                                      17. Baltzer HL et al: MRI volumetric analysis of breast fibroglandular tissue to assess risk of the spared nipple in BRCA1 and BRCA2 mutation carriers. Ann Surg Oncol. 21(5):1583-8, 2014
                                      18. Bosse K et al: Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers. Arch Gynecol Obstet. 289(3):663-70, 2014
                                      19. Laitman Y et al: Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers. Clin Genet. 85(1):68-71, 2014
                                      20. Molina-Montes E et al: Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: A systematic review and meta-analysis. Breast. 23(6):721-42, 2014
                                      21. Tharmaratnam K et al: MRI screening of women with hereditary predisposition to breast cancer: diagnostic performance and survival analysis. Breast Cancer Res Treat. 148(3):687-8, 2014
                                      22. Cott Chubiz JE et al: Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer. 119(6):1266-76, 2013
                                      23. Cuzick J. IBIS Breast Cancer Risk Evaluation Tool. Description of breast cancer risk program. Updated January 31, 2008. http://ems-trials.org/ riskevaluator/. Accessed August 30, 2013
                                      24. Giess CS et al: Patterns of Nonmasslike Enhancement at Screening Breast MR Imaging of High-Risk Premenopausal Women. Radiographics. 33(5):1343-60, 2013
                                      25. National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/breast_risk.pdf. Accessed July 13, 2013
                                      26. National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed July 13, 2013
                                      27. Kam JK et al: Five-year analysis of magnetic resonance imaging as a screening tool in women at hereditary risk of breast cancer. J Med Imaging Radiat Oncol. 57(4):400-6, 2013
                                      28. Lynch HT et al: Hereditary ovarian and breast cancer: what have we learned? Ann Oncol. 24 Suppl 8:viii83-viii95, 2013
                                      29. Møller P et al: Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program. Breast Cancer Res Treat. 139(1):155-61, 2013
                                      30. Pataky R et al: Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers. BMC Cancer. 13:339, 2013
                                      31. Phillips KA et al: Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 31(25):3091-9, 2013
                                      32. Ruddy KJ et al: Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship. Ann Oncol. 24(6):1434-43, 2013
                                      33. Freedman BC et al: Screening mammography in men with BRCA mutations: is there a role? Breast J. 18(1):73-5, 2012
                                      34. Heijnsdijk EA et al: Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev. 21(9):1458-68, 2012
                                      35. Lowry KP et al: Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer. 2012 Apr 15;118(8):2021-30. Epub 2011 Sep 20. Erratum in: Cancer. 118(21):5448, 2012
                                      36. Mavaddat N et al: Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 21(1):134-47, 2012
                                      37. Passaperuma K et al: Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 107(1):24-30, 2012
                                      38. Pickles MD et al: Breast MRI at 3.0 T in a high-risk familial breast cancer screening cohort: comparison with 1.5 T screening studies. Br J Radiol. 85(1015):990-5, 2012
                                      39. Grann VR et al: Comparative effectiveness of screening and prevention strategies among BRCA1/2-affected mutation carriers. Breast Cancer Res Treat. 125(3):837-47, 2011
                                      40. Le-Petross HT et al: Effectiveness of alternating mammography and magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer. Cancer. 117(17):3900-7, 2011
                                      41. Sardanelli F et al: Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results. Invest Radiol. 46(2):94-105, 2011
                                      42. Warner E et al: Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol. 29(13):1664-9, 2011
                                      43. Evans DG et al: Risk of breast cancer in male BRCA2 carriers. J Med Genet. 47:710-1, 2010
                                      44. Gierach GL et al: Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer. Breast Cancer Res Treat. 123(1):245-55, 2010
                                      45. Lehman CD et al: The role of MRI in breast cancer screening. J Natl Compr Canc Netw. 2009 Nov;7(10):1109-15. Review. Erratum in: J Natl Compr Canc Netw. 8(1):xxi, 2010
                                      46. Rijnsburger AJ et al: BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study. J Clin Oncol. 28(36):5265-73, 2010
                                      47. Berrington de Gonzalez A et al: Estimated risk of radiation-induced breast cancer from mammographic screening for young BRCA mutation carriers. J Natl Cancer Inst. 101(3):205-9, 2009
                                      48. Gilbert FJ et al: Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features. Radiology. 252(2):358-68, 2009
                                      49. Rebbeck TR et al: Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 101(2):80-7, 2009
                                      50. Samphao S et al: Diagnosis of breast cancer in women age 40 and younger: delays in diagnosis result from underuse of genetic testing and breast imaging. Am J Surg. 198(4):538-43, 2009
                                      51. Shah P et al: Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence. Breast Cancer Res Treat. 118(3):539-46, 2009
                                      52. Weinstein SP et al: Multimodality screening of high-risk women: a prospective cohort study. J Clin Oncol. 27(36):6124-8, 2009
                                      53. Granader EJ et al: MRI and mammography surveillance of women at increased risk for breast cancer: recommendations using an evidence-based approach. Acad Radiol. 15(12):1590-5, 2008
                                      54. Murphy CD et al: The American Cancer Society guidelines for breast screening with magnetic resonance imaging: an argument for genetic testing. Cancer. 113(11):3116-20, 2008
                                      55. Schrading S et al: Mammographic, US, and MR imaging phenotypes of familial breast cancer. Radiology. 246(1):58-70, 2008
                                      56. Veltman J et al: Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI. Eur Radiol. 18(5):931-8, 2008
                                      57. Causer PA et al: Breast cancers detected with imaging screening in the BRCA population: emphasis on MR imaging with histopathologic correlation. Radiographics. 27 Suppl 1:S165-82, 2007
                                      58. Chen S et al: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 25(11):1329-33, 2007
                                      59. John EM et al: Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 298(24):2869-76, 2007
                                      60. Kauff ND et al: Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2. J Clin Oncol. 25(20):2921-7, 2007
                                      61. Kriege M et al: Tumor characteristics and detection method in the MRISC screening program for the early detection of hereditary breast cancer. Breast Cancer Res Treat. 102(3):357-63, 2007
                                      62. Kuhl CK et al: MRI for diagnosis of pure ductal carcinoma in situ: a prospective observational study. Lancet. 370(9586):485-92, 2007
                                      63. Levy-Lahad E et al: Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 96(1):11-5, 2007
                                      64. Mesurolle B et al: Sonographic features of breast carcinoma presenting as masses in BRCA gene mutation carriers. J Ultrasound Med. 26(6):817-24, 2007
                                      65. Tai YC et al: Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 99(23):1811-4, 2007
                                      66. Anderson K et al: Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation. Ann Intern Med. 144(6):397-406, 2006
                                      67. Andrieu N et al: Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS). J Natl Cancer Inst. 98(8):535-44, 2006
                                      68. Kaas R et al: The correlation of mammographic-and histologic patterns of breast cancers in BRCA1 gene mutation carriers, compared to age-matched sporadic controls. Eur Radiol. 16(12):2842-8, 2006
                                      69. Plevritis SK et al: Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 295(20):2374-84, 2006
                                      70. Kuhl CK et al: Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol. 23(33):8469-76, 2005
                                      71. Leach MO et al: Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet. 2005 May 21-27;365(9473):1769-78. Erratum in: Lancet. 365(9474):1848, 2005
                                      72. Calderon-Margalit R et al: Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: a critical review of the literature. Int J Cancer. 112(3):357-64, 2004
                                      73. Tyrer J et al: A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004 Apr 15;23(7):1111-30. Erratum in: Stat Med. 24(1):156, 2005
                                      74. Hamilton LJ et al: Breast imaging findings in women with BRCA1- and BRCA2-associated breast carcinoma. Clin Radiol. 59(10):895-902, 2004
                                      75. Hollingsworth AB et al: Current comprehensive assessment and management of women at increased risk for breast cancer. Am J Surg. 187(3):349-62, 2004
                                      76. Kaas R et al: The significance of circumscribed malignant mammographic masses in the surveillance of BRCA 1/2 gene mutation carriers. Eur Radiol. 14(9):1647-53, 2004
                                      77. Komenaka IK et al: The development of interval breast malignancies in patients with BRCA mutations. Cancer. 100(10):2079-83, 2004
                                      78. Kriege M et al: Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med. 351(5):427-37, 2004
                                      79. Narod SA et al: BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 4(9):665-76, 2004
                                      80. Rebbeck TR et al: Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 22(6):1055-62, 2004
                                      81. Warner E et al: Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA. 292(11):1317-25, 2004
                                      82. Antoniou A et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 72(5):1117-30, 2003
                                      83. Levine DA et al: Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 21(22):4222-7, 2003
                                      84. Sardanelli F et al: MR imaging of the breast: indications, established technique, and new directions. Eur Radiol. 13 Suppl 3:N28-36, 2003
                                      85. Grann VR et al: Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA1/2 mutations: an updated decision analysis. J Clin Oncol. 20(10):2520-9, 2002
                                      86. Tilanus-Linthorst M et al: A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false-negative mammography. Int J Cancer. 102(1):91-5, 2002
                                      87. Zuiani C et al: Ductal carcinoma in situ: is there a role for MRI? J Exp Clin Cancer Res. 21(3 Suppl):89-95, 2002
                                      88. Colgan TJ et al: Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status. Am J Surg Pathol. 25(10):1283-9, 2001
                                      89. Warner E et al: Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol. 19(15):3524-31, 2001
                                      90. Kuhl CK et al: Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology. 215(1):267-79, 2000
                                      91. Berry DA et al: Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst. 89(3):227-38, 1997
                                      92. Roa BB et al: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14(2):185-7, 1996
                                      93. Sickles EA: Nonpalpable, circumscribed, noncalcified solid breast masses: likelihood of malignancy based on lesion size and age of patient. Radiology. 192(2):439-42, 1994
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Pathology

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Definitions

                                                • Carriers of pathogenic germline BRCA1 or BRCA2 mutations
                                                  • Hereditary breast cancer ± ovarian cancer (HBOC)
                                                  • Benefit from multidisciplinary, individualized medical evaluation and risk management
                                                • Hereditary breast cancer is attributable to single autosomal dominant hereditary pathogenic gene mutation in either BRCA1 or BRCA2; ~ 5-10% of breast cancer cases; majority diagnosed before age 50
                                                • Other rarer hereditary gene mutations associated with ↑ breast cancer risk: Li-Fraumeni (TP53), Cowden (PTEN), Peutz-Jeghers (STK11), hereditary diffuse gastric cancer (CDH1), neurofibromatosis-1 (NF-1)

                                              IMAGING

                                              • Mammographic Findings

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    • CT Findings

                                                      • Imaging Recommendations

                                                        • Image-Guided Biopsy

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Microscopic Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Câmara S et al: The Use of Sentinel Lymph Node Biopsy in BRCA1/2 Mutation Carriers Undergoing Prophylactic Mastectomy: A Retrospective Consecutive Case-Series Study. Int J Breast Cancer. 2018:1426369, 2018
                                                                          2. Evans DG et al: Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 167(3):779-785, 2018
                                                                          3. Guindalini RS et al: Intensive surveillance with bi-annual dynamic contrast-enhanced magnetic resonance imaging downstages breast cancer in BRCA1 mutation carriers. Clin Cancer Res. ePub, 2018
                                                                          4. Ko KP et al: The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers. Int J Cancer. 142(11):2263-2272, 2018
                                                                          5. Kotsopoulos J et al: Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 171(2):421-426, 2018
                                                                          6. Metcalfe KA et al: The risk of breast cancer in BRCA1 and BRCA2 mutation carriers without a first-degree relative with breast cancer. Clin Genet. 93(5):1063-8, 2018
                                                                          7. Ha SM et al: Association of BRCA mutation types, imaging features, and pathologic findings in patients with breast cancer with BRCA1 and BRCA2 mutations. AJR Am J Roentgenol. 209(4):920-8, 2017
                                                                          8. Krammer J et al: Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 163(3):565-71, 2017
                                                                          9. van Zelst JCM et al: Surveillance of women with the BRCA1 or BRCA2 mutation by using biannual automated breast US, MR imaging, and mammography. Radiology. 285(2):376-88, 2017
                                                                          10. Phi XA et al: Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis. Br J Cancer. 114(6):631-7, 2016
                                                                          11. Rieder V et al: Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers. Mol Genet Genomic Med. 4(2):172-7, 2016
                                                                          12. DeLeo MJ 3rd et al: Breast MRI fibroglandular volume and parenchymal enhancement in BRCA1 and BRCA2 mutation carriers before and immediately after risk-reducing salpingo-oophorectomy. AJR Am J Roentgenol. 204(3):669-73, 2015
                                                                          13. Drooger JC et al: Diagnostic and therapeutic ionizing radiation and the risk of a first and second primary breast cancer, with special attention for BRCA1 and BRCA2 mutation carriers: a critical review of the literature. Cancer Treat Rev. 41(2):187-96, 2015
                                                                          14. Manchanda R et al: Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing. J Natl Cancer Inst. 107(1):380, 2015
                                                                          15. Menes TS et al: Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry. Breast Cancer Res Treat. 151(3):653-60, 2015
                                                                          16. Yang RL et al: DCIS in BRCA1 and BRCA2 mutation carriers: prevalence, phenotype, and expression of oncodrivers C-MET and HER3. J Transl Med. 13:335, 2015
                                                                          17. Baltzer HL et al: MRI volumetric analysis of breast fibroglandular tissue to assess risk of the spared nipple in BRCA1 and BRCA2 mutation carriers. Ann Surg Oncol. 21(5):1583-8, 2014
                                                                          18. Bosse K et al: Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers. Arch Gynecol Obstet. 289(3):663-70, 2014
                                                                          19. Laitman Y et al: Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers. Clin Genet. 85(1):68-71, 2014
                                                                          20. Molina-Montes E et al: Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: A systematic review and meta-analysis. Breast. 23(6):721-42, 2014
                                                                          21. Tharmaratnam K et al: MRI screening of women with hereditary predisposition to breast cancer: diagnostic performance and survival analysis. Breast Cancer Res Treat. 148(3):687-8, 2014
                                                                          22. Cott Chubiz JE et al: Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer. 119(6):1266-76, 2013
                                                                          23. Cuzick J. IBIS Breast Cancer Risk Evaluation Tool. Description of breast cancer risk program. Updated January 31, 2008. http://ems-trials.org/ riskevaluator/. Accessed August 30, 2013
                                                                          24. Giess CS et al: Patterns of Nonmasslike Enhancement at Screening Breast MR Imaging of High-Risk Premenopausal Women. Radiographics. 33(5):1343-60, 2013
                                                                          25. National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/breast_risk.pdf. Accessed July 13, 2013
                                                                          26. National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed July 13, 2013
                                                                          27. Kam JK et al: Five-year analysis of magnetic resonance imaging as a screening tool in women at hereditary risk of breast cancer. J Med Imaging Radiat Oncol. 57(4):400-6, 2013
                                                                          28. Lynch HT et al: Hereditary ovarian and breast cancer: what have we learned? Ann Oncol. 24 Suppl 8:viii83-viii95, 2013
                                                                          29. Møller P et al: Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program. Breast Cancer Res Treat. 139(1):155-61, 2013
                                                                          30. Pataky R et al: Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers. BMC Cancer. 13:339, 2013
                                                                          31. Phillips KA et al: Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 31(25):3091-9, 2013
                                                                          32. Ruddy KJ et al: Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship. Ann Oncol. 24(6):1434-43, 2013
                                                                          33. Freedman BC et al: Screening mammography in men with BRCA mutations: is there a role? Breast J. 18(1):73-5, 2012
                                                                          34. Heijnsdijk EA et al: Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev. 21(9):1458-68, 2012
                                                                          35. Lowry KP et al: Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer. 2012 Apr 15;118(8):2021-30. Epub 2011 Sep 20. Erratum in: Cancer. 118(21):5448, 2012
                                                                          36. Mavaddat N et al: Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 21(1):134-47, 2012
                                                                          37. Passaperuma K et al: Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 107(1):24-30, 2012
                                                                          38. Pickles MD et al: Breast MRI at 3.0 T in a high-risk familial breast cancer screening cohort: comparison with 1.5 T screening studies. Br J Radiol. 85(1015):990-5, 2012
                                                                          39. Grann VR et al: Comparative effectiveness of screening and prevention strategies among BRCA1/2-affected mutation carriers. Breast Cancer Res Treat. 125(3):837-47, 2011
                                                                          40. Le-Petross HT et al: Effectiveness of alternating mammography and magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer. Cancer. 117(17):3900-7, 2011
                                                                          41. Sardanelli F et al: Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasonography, and contrast-enhanced magnetic resonance imaging (the high breast cancer risk italian 1 study): final results. Invest Radiol. 46(2):94-105, 2011
                                                                          42. Warner E et al: Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J Clin Oncol. 29(13):1664-9, 2011
                                                                          43. Evans DG et al: Risk of breast cancer in male BRCA2 carriers. J Med Genet. 47:710-1, 2010
                                                                          44. Gierach GL et al: Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer. Breast Cancer Res Treat. 123(1):245-55, 2010
                                                                          45. Lehman CD et al: The role of MRI in breast cancer screening. J Natl Compr Canc Netw. 2009 Nov;7(10):1109-15. Review. Erratum in: J Natl Compr Canc Netw. 8(1):xxi, 2010
                                                                          46. Rijnsburger AJ et al: BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study. J Clin Oncol. 28(36):5265-73, 2010
                                                                          47. Berrington de Gonzalez A et al: Estimated risk of radiation-induced breast cancer from mammographic screening for young BRCA mutation carriers. J Natl Cancer Inst. 101(3):205-9, 2009
                                                                          48. Gilbert FJ et al: Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features. Radiology. 252(2):358-68, 2009
                                                                          49. Rebbeck TR et al: Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 101(2):80-7, 2009
                                                                          50. Samphao S et al: Diagnosis of breast cancer in women age 40 and younger: delays in diagnosis result from underuse of genetic testing and breast imaging. Am J Surg. 198(4):538-43, 2009
                                                                          51. Shah P et al: Prospective study of breast MRI in BRCA1 and BRCA2 mutation carriers: effect of mutation status on cancer incidence. Breast Cancer Res Treat. 118(3):539-46, 2009
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