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Should we screen BRCA1 mutation carriers only with MRI? A multicenter study

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Abstract

BRCA1 mutation carriers are offered screening with MRI and mammography. Aim of the study was to investigate the additional value of digital mammography over MRI screening. BRCA1 mutation carriers, who developed breast cancer since the introduction of digital mammography between January 2003 and March 2013, were included. The images and reports were reviewed in order to assess whether the breast cancers were screen-detected or interval cancers and whether they were visible on mammography and MRI, using the breast imaging and data system classification allocated at the time of diagnosis. In 93 BRCA1 mutation carriers who underwent screening with MRI and mammography, 82 invasive breast cancers and 12 ductal carcinomas in situ (DCIS) were found. Screening sensitivity was 95.7 % (90/94). MRI detected 88 of 94 breast cancers (sensitivity 93.6 %), and mammography detected 48 breast cancers (sensitivity 51.1 %) (two-sided p < 0.001). Forty-two malignancies were detected only by MRI (42/94 = 44.7 %). Two DCIS were detected only with mammography (2/94 = 2.1 %) concerning a grade 3 in a 50-year-old patient and a grade 2 in a 67-year-old patient. Four interval cancers occurred (4/94 = 4.3 %), all grade 3 triple negative invasive ductal carcinomas. In conclusion, digital mammography added only 2 % to the breast cancer detection in BRCA1 patients. There was no benefit of additional mammography in women below age 40. Given the potential risk of radiation-induced breast cancer in young mutation carriers, we propose to screen BRCA1 mutation carriers yearly with MRI from age 25 onwards and to start with mammographic screening not earlier than age 40.

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References

  1. Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for breast and ovarian cancer susceptibility gen BRCA1. Science 266(5182):66–71

    Article  PubMed  CAS  Google Scholar 

  2. Wooster R, Neuhausen SL, Mangion et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265(5181):2088–2090

    Article  PubMed  CAS  Google Scholar 

  3. Warner E, Plewes DB, Kimberley A et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound and mammography, and clinical breast examination. JAMA 292(11):1317–1325

    Article  PubMed  CAS  Google Scholar 

  4. MARIBS study group (2005) Screening with magnetic resonance imaging and mammography of a UK population at a high familial risk of breast cancer: a prospective multicentre cohort (MARIBS). Lancet 365:1769–1778

    Article  Google Scholar 

  5. Hagen AI, Kvistad KA, Maehle L et al (2007) Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series. Breast 16(4):267–274

    Article  Google Scholar 

  6. Kriege M, Brekelmans CT, Boetes C et al (2004) Magnetic Resonance Imaging Screening Study Group. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351(5):427–437

    Article  PubMed  CAS  Google Scholar 

  7. Rijnsburger AJ, Obdeijn IM, Kaas R et al (2010) BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Study. J Clin Oncol 28:5265–5527

    Article  PubMed  CAS  Google Scholar 

  8. Sardanelli S, Podo F, Santoro F, for the High Breast Cancer Risk Italian 1 Study (2011) Multicenter surveillance of women at high genetic breast cancer risk using mammography, ultrasound and contrast-enhanced magnetic resonance imaging (the High Breast Cancer Risk Italian 1 Study). Invest Radiol 46:94–105

    Article  PubMed  Google Scholar 

  9. Warner E, Hill K, Causer P et al (2011) 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):1664–1669

    Article  PubMed  Google Scholar 

  10. Andrieu N, Easton DF, Chang-Claude J et al (2006) Effect of chest X-ray on the risk of breast cancer among BRCA1/2 mutation carriers in the International carrier Cohort Study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators’ Group. J Clin Oncol 24(21):3361–3366

    Article  PubMed  CAS  Google Scholar 

  11. Jansen-van der Weide MC, Greuter MJW, Jansen L, Oosterwijk JC, Pijnappel RM, de Bock GH (2010) Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis. Eur Radiol 20:2547–2556

    Article  PubMed  Google Scholar 

  12. Pijpe A, Andrieu N, Easton D, on behalf of GENEPSO, EMBRACE and HEBON et al (2012) Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: a retrospective cohort study (GENE-RAD-RISK). BMJ 6(345):e5660. doi:10.1136/bmj.e5660

    Article  Google Scholar 

  13. Pisano ED, Gatsonis C, Hendrick E, Digital Mammographic Imaging Screening Trial (DMIST) Investigators Group et al (2005) Diagnostic performance of digital versus film mammography for breast-cancer screening. N Engl J Med 353(17):1773–1783

    Article  PubMed  CAS  Google Scholar 

  14. NABON NAtionaal Borstkanker Overleg Nederland. Richtlijn mammacarcinoom 2008. Available at http://www.oncoline.nl

  15. American College of Radiology (2003) Breast Imaging Reporting and Data System (BI-RADS) Ultrasound, mammography and magnetic resonance atlas. American College of Radiology, Reston

    Google Scholar 

  16. Heijnsdijk EAM, Warner E, Gilbert FJ et al (2012) 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):1458–1468

    Article  PubMed  Google Scholar 

  17. Narod A, Lubinski J, Ghadirian P et al (2006) Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case control study. Lancet Oncol 7:402–406

    Article  PubMed  CAS  Google Scholar 

  18. Pierce LJ, Strawderman M, Narod S et al (2000) Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. JCO 18(19):3360–3369

    CAS  Google Scholar 

  19. Lakhani SR, van de Vijver MJ, Jacquemier J, for the Breast Cancer Linkage Consortium et al (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers Estrogen Receptor, Progesterone Receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20(9):2310–2317

    Article  PubMed  CAS  Google Scholar 

  20. Brekelmans CTM, Tilanus-Linthorst MMA, Seynaeve C et al (2007) Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer 43:867–876

    Article  PubMed  CAS  Google Scholar 

  21. Tilanus-Linthorst MM, Obdeijn IM, Hop WC et al (2007) BRCA1 mutation and young age predict fast breast cancer growth in the Dutch, United Kingdom and Canadian magnetic resonance imaging screening trials. Clin Cancer Res 13:7357–7362

    Article  PubMed  CAS  Google Scholar 

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Acknowledgments

The authors thank Eveline Heijnsdijk and Sepideh Saadatmand for their efforts.

Conflict of interest

The authors declared no possible conflicts of interest.

Disclosure

One of the authors (R.M) receives honoraria from Bayer Healthcare for lecturing.

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Correspondence to Inge-Marie Obdeijn.

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Obdeijn, IM., Winter-Warnars, G.A.O., Mann, R.M. et al. Should we screen BRCA1 mutation carriers only with MRI? A multicenter study. Breast Cancer Res Treat 144, 577–582 (2014). https://doi.org/10.1007/s10549-014-2888-8

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  • DOI: https://doi.org/10.1007/s10549-014-2888-8

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