Francesco Sardanelli MD, Presenter: Nothing to Disclose

Stefano Corcione MD, Abstract Co-Author: Nothing to Disclose

Siranaoush Manoukian MD, Abstract Co-Author: Nothing to Disclose

Laura Cortesi MD, Abstract Co-Author: Nothing to Disclose

Cosimo Di Maggio MD, Abstract Co-Author: Nothing to Disclose

Franca Podo PhD, Abstract Co-Author: Nothing to Disclose

Alfonso Fausto MD, Abstract Co-Author: Nothing to Disclose

et al, Abstract Co-Author: Nothing to Disclose

To screen women at genetic and/or familial high risk of breast cancer (BC).

Eligibility: age not lower than 25 yrs; BRCA1/2 carriers of deleterious mutation or their first degree relatives; women with a strong familial BC history (SFBCH) with at least 3 tumoral events in the woman, in first/second degree relatives on the mother- or on the father-line, including female BCs under-60 and male BCs or ovarian cancers without age limits. Two annual rounds with MR, standard mammography and ultrasound (US) were planned. MR was performed at 1-1.5 T using a dynamic technique: 3D T1-weighted gradient-echo; 0.1 mmol/kg of a Gd-chelate; time resolution lower or equal to 90 s. Work-up of only-MR suspicious lesions included: repeat MR after 1-3 months, US-guided (second-look) and/or MR-guided biopsy.

Up to March 2004, 235 women (88 with previous personal BC history, 37%) were enrolled by 17 Centers: 95 BRCA1+ or their first degree relatives, 79 women with SFBCH, 61 BRCA2+ or their first degree relatives. Eighty-six underwent both 1st and 2nd round. Eleven patients were found to be affected with BC at the 1st round and 7 at the 2nd round, 18 in total (mean age 52.0 +/-10.0 years) for an incidence of 10.2% (9/88) in women with previous personal BC history, 8.9% (7/79) in women with SFBCH, and of 7.7% (18/235) in overall. We found 10 IDC (2 of them multifocal), 3 ILC (one of them associated with DCIS), 1 IDC+ILC, 1 atypical medullar carcinoma, 3 DCIS (one of them multifocal, one associated with LCIS), ranging 3-19 mm in diameter. Two patients with IDC with positive mammography and US did not undergo MR and the patient with IDC+ILC did not undergo US. Out of the 15 cancers with complete multimodality assessment, six (40%) were detected only by MR, both in pre- (n=3) and post-menopausal (n=3) women; seven by all the three imaging modalities (47%); one by XM and MR; and one by XM and US (an MR false negative, ILC of 9 mm). Mammography had 3 false positives, US 3, and MR 5.

Women with genetic and/or familial high of BC should be yearly screened with a multimodality approach, including MR.

Sardanelli, F, Corcione, S, Manoukian, S, Cortesi, L, Di Maggio, C, Podo, F, Fausto, A, et al, , Multicenter Screening of 235 Women at Genetic and/or Familial High Risk of Breast Cancer: Mammography, Ultrasound, and MR.  Radiological Society of North America 2004 Scientific Assembly and Annual Meeting, November 28 - December 3, 2004 ,Chicago IL. http://archive.rsna.org/2004/4405322.html