title: MRI in the early detection of breast cancer in women with high genetic risk.
abstract: OBJECTIVE
  Women with BRCA1 or BRCA2 germline mutations have an elevated risk of developing breast and/or ovarian cancer. Because of the early onset of the disease, screening of this group of women should start at an earlier age than in the general population. The association of breast magnetic resonance imaging (BMRI) and ultrasonography (US) with mammography (MX) and clinical breast examination (CBE) in the regular surveillance of these individuals has been proposed and seems to improve the early detection of breast cancer.
  
  
  METHODS
  Within a multicenter study started by the Istituto Superiore di Sanità (Rome), at the Istituto Nazionale Tumori of Milan (INT) we enrolled 116 women at high genetic risk for breast cancer; they were either BRCA1 or BRCA2 mutation carriers or had a strong family history of breast cancer. They underwent CBE, MX, US and BMRI once a year.
  
  
  RESULTS
  Between June 2000 and April 2005, at INT 12 cancers were detected among the 116 screened individuals (10%). In this subgroup, 1 patient refused BMRI and in 2 cases US was not performed. With BMRI we found 11 cancers and 6 of them were detectable only by this technique. In these 6 cases, the size of the disease was less than 1 cm and MX was false negative due to irregularly nodular parenchyma in 4 cases and scar tissue or prosthesis in the other 2. US was not performed in 2 cases and was false negative in 4 cases. Three false positive results were found with BMRI: 1 case was considered suspect but related to hormonal influences; 1 case with the same pattern was sent for second-look US, which gave a negative result and BMRI review after 6 months showed normalization of the parenchyma; in the third case histology revealed the presence of adenosis. No false positive results were registered for MX.
  
  
  CONCLUSIONS
  The aim of secondary prevention is the detection of cancer at its earliest stage. BMRI screening in women with BRCA1 or BRCA2 mutations or at high familiar risk appears to be highly sensitive and may detect mammographically occult disease. The accuracy of MR imaging is higher than that of conventional imaging but the technique is flawed by a lower specificity. In order to avoid unnecessary biopsies we believe that the combination of BMRI and conventional imaging can be very useful in screening women with a high genetic risk of breast cancer, especially with second-look evaluation by means of US when BMRI yields the only positive diagnostic result. Second-look US has been demonstrated to be of critical importance both in recognizing false positive BMRI results and in guiding biopsies, when necessary.
authors.affiliation: Unit of Diagnostic Radiology 1, Istituto Nazionale Tumori, Milan, Italy. trecate@istitutotumori.mi.it
authors.forename: Giovanna
authors.initials: G
authors.lastname: Trecate
authors.forename: Daniele
authors.initials: D
authors.lastname: Vergnaghi
authors.forename: Siranuosh
authors.initials: S
authors.lastname: Manoukian
authors.forename: Silvana
authors.initials: S
authors.lastname: Bergonzi
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Scaperrotta
authors.forename: Monica
authors.initials: M
authors.lastname: Marchesini
authors.forename: Claudio
authors.initials: C
authors.lastname: Ferranti
authors.forename: Bernard
authors.initials: B
authors.lastname: Peissel
authors.forename: Gianbattista
authors.initials: G
authors.lastname: Spatti
authors.forename: Silvia
authors.initials: S
authors.lastname: Bohm
authors.forename: Alberto
authors.initials: A
authors.lastname: Conti
authors.forename: Claudia
authors.initials: C
authors.lastname: Costa
authors.forename: Manila
authors.initials: M
authors.lastname: Sporeni
authors.forename: Franca
authors.initials: F
authors.lastname: Podo
authors.forename: Renato
authors.initials: R
authors.lastname: Musumeci
mesh_terms: D000328:Adult; D017668:Age of Onset; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D042241:Early Diagnosis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008327:Mammography; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D011159:Population Surveillance; D016217:Ultrasonography, Mammary