Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers
- 18 September 2013
- journal article
- Published by Springer Nature in Archives of Gynecology and Obstetrics
- Vol. 289 (3) , 663-670
Abstract
This study aimed at evaluating the efficacy of ultrasound for the early detection of breast cancers in BRCA1/2 mutation carriers. Between 01/1997 and 10/2008 221 BRCA1/2 mutation carriers participated in a breast cancer screening program which included semi-annual ultrasound in combination with annual mammography and magnetic resonance imaging (MRI). Women underwent on average (median) five semi-annual screening rounds with a range of one to 22 appointments, totaling 1,855 rounds of screening. All three imaging modalities were coded according to the American College of Radiology (BI-RADS classification). In total, we detected 27 BRCA-associated breast cancers in 25 patients. The sensitivity was 77 % for ultrasound, 27 % for mammography, and 100 % for MRI. Three tumors were detected directly as a result of only the semi-annual ultrasound screen. Due to the specific tumor morphology and the considerably elevated tumor doubling time, mutation carriers benefit from the addition of semi-annual ultrasound screening as a sensitive and cost-effective method.Keywords
This publication has 27 references indexed in Scilit:
- Pathology of hereditary breast cancerLaboratory Investigation, 2010
- BRCA1 Mutation and Young Age Predict Fast Breast Cancer Growth in the Dutch, United Kingdom, and Canadian Magnetic Resonance Imaging Screening TrialsClinical Cancer Research, 2007
- BRCA1-Associated Breast Carcinomas Frequently Present with Benign Sonographic FeaturesAmerican Journal of Roentgenology, 2006
- Hereditary breast cancer growth rates and its impact on screening policyEuropean Journal of Cancer, 2005
- Early detection of breast and ovarian cancer in families with BRCA mutationsEuropean Journal of Cancer, 2005
- Surveillance of BRCA1 and BRCA2 Mutation Carriers With Magnetic Resonance Imaging, Ultrasound, Mammography, and Clinical Breast ExaminationJAMA, 2004
- The development of interval breast malignancies in patients with BRCA mutationsCancer, 2004
- Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 StudiesThe American Journal of Human Genetics, 2003
- Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer FamiliesThe American Journal of Human Genetics, 1998
- Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic casesThe Lancet, 1997