Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results.
OBJECTIVE
To prospectively compare clinical breast examination (CBE), mammography, ultrasonography (US), and contrast material-enhanced magnetic resonance (MR) imaging for screening women at genetic-familial high risk for breast cancer and report interim results, with pathologic findings as standard.


METHODS
Institutional review board of each center approved the research; informed written consent was obtained. CBE, mammography, US, and MR imaging were performed for yearly screening of BRCA1 or BRCA2 mutation carriers, first-degree relatives of BRCA1 or BRCA2 mutation carriers, or women enrolled because of a strong family history of breast or ovarian cancer (three or more events in first- or second-degree relatives in either maternal or paternal line; these included breast cancer in women younger than 60 years, ovarian cancer at any age, and male breast cancer at any age).


RESULTS
Two hundred seventy-eight women (mean age, 46 years +/- 12 [standard deviation]) were enrolled. Breast cancer was found in 11 of 278 women at first round and seven of 99 at second round (14 invasive, four intraductal; eight were <or=10 mm in diameter). Detection rate per year was 4.8% (18 of 377) overall; 4.3% (11 of 258) in BRCA1 or BRCA2 mutation carriers and first-degree relatives of BRCA1 or BRCA2 mutation carriers versus 5.9% (seven of 119) in women enrolled because of strong family history; and 5.3% (nine of 169) in women with previous personal breast and/or ovarian cancer versus 4.3% (nine of 208) in those without. In six (33%) of 18 patients, cancer was detected only with MR imaging. Sensitivity was as follows: CBE, 50% (95% confidence interval [CI]: 29%, 71%); mammography, 59% (95% CI: 36%, 78%); US, 65% (95% CI: 41%, 83%); and MR imaging, 94% (95% CI: 82%, 99%). Positive predictive value was as follows: CBE, 82% (95% CI: 52%, 95%); mammography, 77% (95% CI: 50%, 92%); US, 65% (95% CI: 41%, 83%); and MR imaging, 63% (95% CI: 43%, 79%).


CONCLUSIONS
Addition of MR imaging to the screening regimen for high-risk women may enable detection of otherwise unsuspected breast cancers.
Sardanelli
Francesco
F
University of Milan School of Medicine, Department of Medical and Surgical Sciences, Unit of Radiology, IRCCS Policlinico San Donato, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy. f.sardanelli@grupposandonato.it
Podo
Franca
F
D'Agnolo
Giuliano
G
Verdecchia
Arduino
A
Santaquilani
Mariano
M
Musumeci
Renato
R
Trecate
Giovanna
G
Manoukian
Siranoush
S
Morassut
Sandro
S
de Giacomi
Clelia
C
Federico
Massimo
M
Cortesi
Laura
L
Corcione
Stefano
S
Cirillo
Stefano
S
Marra
Vincenzo
V
Cilotti
Anna
A
Di Maggio
Cosimo
C
Fausto
Alfonso
A
Preda
Lorenzo
L
Zuiani
Chiara
C
Contegiacomo
Alma
A
Orlacchio
Antonio
A
Calabrese
Massimo
M
Bonomo
Lorenzo
L
Di Cesare
Ernesto
E
Tonutti
Maura
M
Panizza
Pietro
P
Del Maschio
Alessandro
A
D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data*; D008875:Middle Aged; D010865:Pilot Projects; D011159:Population Surveillance / Q000379:methods; D015995:Prevalence; D015203:Reproducibility of Results; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D012680:Sensitivity and Specificity; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D024682:BRCA2 Protein; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases