Should we screen BRCA1 mutation carriers only with MRI? A multicenter study
- 616 Downloads
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.
KeywordsBRCA1 mutation carriers Breast cancer Screening Digital mammography MRI Radiation-induced breast cancer
The authors thank Eveline Heijnsdijk and Sepideh Saadatmand for their efforts.
Conflict of interest
The authors declared no possible conflicts of interest.
One of the authors (R.M) receives honoraria from Bayer Healthcare for lecturing.
- 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 46:94–105PubMedCrossRefGoogle 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):3361–3366PubMedCrossRefGoogle 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, RestonGoogle 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):3360–3369Google 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):2310–2317PubMedCrossRefGoogle Scholar