To evaluate the role of targeted prostate cancer screening in men with BRCA1/2 mutations men aged 40-69 years from families with BRCA1/2 mutations were offered annual prostate specific antigen (PSA) testing, and those with PSA ) 3 ng/mL, were offered a prostate biopsy. Prostate cancer was diagnosed in ten individuals, a prevalence of 3.3%. The positive predictive value of PSA screening in this cohort was 47•6% (10/21). The present study shows that the positive predictive value of PSA screening in BRCA mutation carriers is high and that screening detects clinically significant prostate cancer.
COBISS.SI-ID: 1142907
GenoMEL Consortium conducted a GWAS study (genome-wide association study) and discovered three new loci ( ATM, MX2 and CASP8 ). These newly associated variants showed no association with nevus or pigmentation phenotypes .
COBISS.SI-ID: 1158267
The aim of the study was to analyse the results of BRCA1/2 testing in a group of patients with double primary breast and ovarian cancer (DPBOC) in Slovenia. Additionally, the family history and the clinicopathologic characteristics of BRCA1/2 mutation positive and negative patients with DPBOC were analysed, comparing them to a group of untested patients with DPBOC. There was significantly higher grade of ovarian cancer and significantly higher rate of multiple primary breast cancer in BRCA1/2 positive group.
COBISS.SI-ID: 28753881