Haydee Ojeda-Fournier, MD; Wendie A. Berg, MD, PhD, FACR, FSBI
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
4
4
0
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Laitman Y et al: Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers. Clin Genet. 85(1):68-71, 2014
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
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
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
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
Giess CS et al: Patterns of Nonmasslike Enhancement at Screening Breast MR Imaging of High-Risk Premenopausal Women. Radiographics. 33(5):1343-60, 2013
National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/breast_risk.pdf. Accessed July 13, 2013
National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed July 13, 2013
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
Lynch HT et al: Hereditary ovarian and breast cancer: what have we learned? Ann Oncol. 24 Suppl 8:viii83-viii95, 2013
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
Pataky R et al: Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers. BMC Cancer. 13:339, 2013
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
Ruddy KJ et al: Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship. Ann Oncol. 24(6):1434-43, 2013
Freedman BC et al: Screening mammography in men with BRCA mutations: is there a role? Breast J. 18(1):73-5, 2012
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
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
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
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
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
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
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
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
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
Evans DG et al: Risk of breast cancer in male BRCA2 carriers. J Med Genet. 47:710-1, 2010
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
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
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
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
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
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
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
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
Weinstein SP et al: Multimodality screening of high-risk women: a prospective cohort study. J Clin Oncol. 27(36):6124-8, 2009
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
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
Schrading S et al: Mammographic, US, and MR imaging phenotypes of familial breast cancer. Radiology. 246(1):58-70, 2008
Veltman J et al: Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI. Eur Radiol. 18(5):931-8, 2008
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
Chen S et al: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 25(11):1329-33, 2007
John EM et al: Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 298(24):2869-76, 2007
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
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
Kuhl CK et al: MRI for diagnosis of pure ductal carcinoma in situ: a prospective observational study. Lancet. 370(9586):485-92, 2007
Levy-Lahad E et al: Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 96(1):11-5, 2007
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
Tai YC et al: Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 99(23):1811-4, 2007
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
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
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
Plevritis SK et al: Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 295(20):2374-84, 2006
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
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
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
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
Hamilton LJ et al: Breast imaging findings in women with BRCA1- and BRCA2-associated breast carcinoma. Clin Radiol. 59(10):895-902, 2004
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
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
Komenaka IK et al: The development of interval breast malignancies in patients with BRCA mutations. Cancer. 100(10):2079-83, 2004
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
Narod SA et al: BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 4(9):665-76, 2004
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
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
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
Levine DA et al: Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 21(22):4222-7, 2003
Sardanelli F et al: MR imaging of the breast: indications, established technique, and new directions. Eur Radiol. 13 Suppl 3:N28-36, 2003
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
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
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
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
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
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
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
Roa BB et al: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14(2):185-7, 1996
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
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Laitman Y et al: Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers. Clin Genet. 85(1):68-71, 2014
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
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
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
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
Giess CS et al: Patterns of Nonmasslike Enhancement at Screening Breast MR Imaging of High-Risk Premenopausal Women. Radiographics. 33(5):1343-60, 2013
National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/breast_risk.pdf. Accessed July 13, 2013
National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed July 13, 2013
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
Lynch HT et al: Hereditary ovarian and breast cancer: what have we learned? Ann Oncol. 24 Suppl 8:viii83-viii95, 2013
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
Pataky R et al: Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers. BMC Cancer. 13:339, 2013
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
Ruddy KJ et al: Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship. Ann Oncol. 24(6):1434-43, 2013
Freedman BC et al: Screening mammography in men with BRCA mutations: is there a role? Breast J. 18(1):73-5, 2012
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
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
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
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
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
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
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
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
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
Evans DG et al: Risk of breast cancer in male BRCA2 carriers. J Med Genet. 47:710-1, 2010
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
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
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
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
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
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
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
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
Weinstein SP et al: Multimodality screening of high-risk women: a prospective cohort study. J Clin Oncol. 27(36):6124-8, 2009
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
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
Schrading S et al: Mammographic, US, and MR imaging phenotypes of familial breast cancer. Radiology. 246(1):58-70, 2008
Veltman J et al: Breast tumor characteristics of BRCA1 and BRCA2 gene mutation carriers on MRI. Eur Radiol. 18(5):931-8, 2008
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
Chen S et al: Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 25(11):1329-33, 2007
John EM et al: Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 298(24):2869-76, 2007
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
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
Kuhl CK et al: MRI for diagnosis of pure ductal carcinoma in situ: a prospective observational study. Lancet. 370(9586):485-92, 2007
Levy-Lahad E et al: Cancer risks among BRCA1 and BRCA2 mutation carriers. Br J Cancer. 96(1):11-5, 2007
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
Tai YC et al: Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 99(23):1811-4, 2007
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
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
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
Plevritis SK et al: Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 295(20):2374-84, 2006
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
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
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
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
Hamilton LJ et al: Breast imaging findings in women with BRCA1- and BRCA2-associated breast carcinoma. Clin Radiol. 59(10):895-902, 2004
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
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
Komenaka IK et al: The development of interval breast malignancies in patients with BRCA mutations. Cancer. 100(10):2079-83, 2004
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
Narod SA et al: BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 4(9):665-76, 2004
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
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
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
Levine DA et al: Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 21(22):4222-7, 2003
Sardanelli F et al: MR imaging of the breast: indications, established technique, and new directions. Eur Radiol. 13 Suppl 3:N28-36, 2003
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
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
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
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
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
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
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
Roa BB et al: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14(2):185-7, 1996
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
STATdx includes over 200,000 searchable images, including x-ray, CT, MR and ultrasound images. To access all images, please log in or subscribe.