Rabea Haq MBChB, Presenter: Nothing to Disclose

Yit Yoong Lim MBBCh, Abstract Co-Author: Nothing to Disclose

Emma Hurley, Abstract Co-Author: Nothing to Disclose

Mary Wilson Wilson MBBS, Abstract Co-Author: Nothing to Disclose

To retrospectively review the radiological features of cancers detected in the screening of women with familial breast cancer.

Patients with familial breast cancer and those with a genetic mutation (BRCA1, BRCA2, p53) were screened according to the National Institute for Clinical Excellence (NICE) guidelines in the United Kingdom. These women were screened with annual mammograhy with the addition of annual MR scan in those with genetic mutation and at high risk of breast cancer. The mammographic, MR and ultrasonographic findings of breast cancers detected in these groups of women were reviewed and correlated with histology.

65 cancers in 63 patients were identified from our database over a 4-year period from 2007 to 2010. The women range from ages 31 to 64 with a mean age of 48.1 years. There were 9 cancers in BRCA1 carrier in which 6 cases were detected on MR, 1 on mammography and 2 were interval cancers. These were mainly high-grade invasive ductal carcinoma with one case of ductal carcinoma in-situ. Out of the 10 cancers in BRCA2 carriers, 2 were detected on MR, 4 on mammography and 4 were interval cancers. There were 8 cases of invasive cancers and 2 cases of ductal carcinoma in situ. 42% of the cancers in BRCA 1 and 2 carriers were detected on MR only and were mammographically occult. Overall, out of the 22 cases presenting as masses, 8 were well defined and had benign features. Only 7 cases demonstrated microcalcification that were confirmed as ductal carcinoma in situ. 31.7% of the cancers were interval cancers.

MR is the most sensitive screening modality in the BRCA1 and BRCA2 carriers. Only a small number of the cases present as microcalcification and when lesion present as masses, they can have benign appearances. Despite annual surveillance, a high proportion of the cancers detected were interval cancers.

MRI is useful in screening women with familial breast cancer, particularly in BRCA1 and BRCA2 carriers but overall, a significant number of cases still present as interval cancers.

Haq, R, Lim, Y, Hurley, E, Wilson, M, Radiological Features of Women with Familial Breast Carcinoma: Four-year Retrospective Review with Histopathological Correlation.  Radiological Society of North America 2011 Scientific Assembly and Annual Meeting, November 26 - December 2, 2011 ,Chicago IL. http://archive.rsna.org/2011/11014278.html