Prostate screening uptake in Australian BRCA1 and BRCA2 carriers

Abstract

H He er re ed di it ta ar ry y C Ca an nc ce er r i in n C Cl li in ni ic ca al l P Pr ra ac ct ti ic ce e 2007; 5(3) A Ab bs st tr ra ac ct t Men who carry mutations in BRCA1 or BRCA2 are at increased risk for prostate cancer. However the efficacy of prostate screening in this setting is uncertain and limited data exists on the uptake of prostate screening by mutation carriers. This study prospectively evaluated uptake of prostate cancer screening in a multi-institutional cohort of mutation carriers. Subjects were unaffected male BRCA1 and BRCA2 mutation carriers, aged 40-69 years, enrolled in the Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) and who had completed a mailed, self-report follow-up questionnaire 3 yearly after study entry. Of the 75 male carriers in this study, only 26 (35%) had elected to receive their mutation result. Overall, 51 (68%) did not recall having received a recommendation to have prostate screening because of their family history, but 41 (55%) had undergone a prostate specific antigen (PSA) test and 32 (43%) a digital rectal examination (DRE) in the previous 3 years. Those who were aware of their mutation result were more likely to have received a recommendation for prostate screening (43 vs. 6%, p=0.0001), and to have had a PSA test (77 vs. 43%, p=0.005) and a DRE (69 vs. 29%, p=0.001) in the previous 3 years. The majority of unaffected males enrolled in kConFab with a BRCA1/2 mutation have not sought out their mutation result. However, of those aware of their positive mutation status, most have undergone at least one round of prostate screening in the previous 3 years.The authors of the recent short report summarising the 2006 AIDIT and IMPACT conference are to be congratulated on their planned study, which should provide useful information to guide screening recommendations for male BRCA1 and BRCA2 mutation carriers [1]. While knowing about the current screening behaviours of male BRCA1 and BRCA2 carriers could assist the investigators in maximising recruitment and adherence to the study, relevant published data are limited [2].We recently analysed prospective data on the uptake of prostate cancer screening in male BRCA1 and BRCA2 mutation carriers, aged 40 to 69 years (the age for eligibility for the IMPACT study), with no personal history of cancer, enrolled in the Kathleen

Decreased Prostate Cancer-Specific Survival of Men with BRCA2 Mutations from Multiple Breast Cancer Families

“…However, studies examining the impact of men at risk of prostate cancer and the associated recruitment and retention into early detection programs have shown that these programs are becoming more prevalent (10)(11).…”

Prostate cancer in omics era

“…In multiple large genomic cohort studies of primary PCa and metastatic castration-resistant prostate cancer (mCRPC), a number of DNA copy number variations (CNV), gene mutations, gene rearrangements, and gene fusions have been associated to disease recurrence [ 13 , 14 ]. Furthermore, familial mutations in transcription factors such as HOXB13 [ 15 ], tumor suppressor genes such as TP53 and APC [ 16 ], and DNA repair genes such as POLD1 , BRCA1 and BRCA2 [ 17 , 18 ], have also been discovered in PCa genomic studies.…”