Compliance and impact of screening on individuals at high risk of breast and ovarian cancer syndrome (BOCS).

Abstract

e13054Background: Recommendations of screening are well defined in carriers of mutation of BRCA1 and BRCA2 genes. The aim of this study was to determine the compliance and impact of screening follow-up in individuals at high risk of breast and ovarian cancer syndrome (BOCS), in terms of the detection of cancer. Methods: Between 02/12/2011 and 12/31/2015, 755 individuals with BOCS underwent regular follow-up. All patients met criteria BOCS. The genetic study of BRCA1/BRCA2 genes was based on PCR and Sanger sequencing in 720 individuals (198 had a mutation in BRCA1/BRCA2 genes; 368 had variants of unknown significance [VUS]; 154 had a non-informative result). In 35 individuals the genetic test was not possible, but they were also recommended screening. At baseline, 560 patients had cancer and 195 were healthy individuals. Compliance and results of the screening tests were evaluated annually. Results: Of the 755 individuals, 246 (32.6%) did not perform the recommended annual screening. The reasons were: 165 ...