Prostate screening uptake in Australian BRCA1 and BRCA2 carriers
© The Author(s) 2007
Received: 2 July 2007
Accepted: 5 September 2007
Published: 15 September 2007
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.
KeywordsBRCA1 BRCA2 prostate screening
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 . 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 .
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 Cuningham Consortium for Research into Familial Breast Cancer (kConFab) Follow-Up Study . kConFab is a cohort of over 1110 families with strong histories of breast and/or ovarian cancer [4, 5]. Every three years after enrolment, the Follow-Up Study collects updated information on cancer events, screening behaviour, epidemiological and lifestyle risk factors and preventive strategies from these individuals using self-report questionnaires . The kConFab Follow-Up study has ethics approval at all sites from which participants are recruited.
Since 2001 we have mailed follow-up questionnaires to 123 male BRCA1 and BRCA2 mutation carriers with no personal history of cancer, aged 40 to 69 years. Overall 82 (67%) responded. Of these, seven were excluded from the current analysis (two had cancer diagnosed and five had benign prostatic hypertrophy during the follow-up period). Only 26 of the remaining 75 men (35%) had elected to receive their (positive) mutation test result after being informed that a genetic test result was available. The mean follow-up period for the entire group was 4.2 years and the mean time between genetic test result disclosure and completion of the follow-up questionnaire was 2.8 years. The average age of participants was 53 years, with 32 (43%) under the age of 50 years.
Prostate screening recommendations received by BRCA1 and BRCA2 mutation carriers
Carriers aware of mutation result n = 26 (%)
Carriers unaware of mutation result n = 49 (%)
PSA and DRE
Prostate screening undertaken by BRCA1 and BRCA2 mutation carriers
of mutation result n = 26 (%)
of mutation result n = 49 (%)
not in last 3 years
not in last 3 years
In our study, only 35% of men elected to learn their mutation test results, which is lower than the uptake rate of about 50% seen for women in the kConFab Follow-Up Study . The low proportion of men from BRCA1 and BRCA2 mutation positive families who chose to learn their mutation status is important. If these rates apply elsewhere, this could be an impediment to optimal recruitment to IMPACT. Education of men from these families about the possible personal health benefits of genetic testing may improve uptake rates.
There are no Australian population guidelines for prostate cancer screening in the general population and current Australian guidelines on management of familial cancer are silent on the issue of prostate cancer screening for BRCA1 and BRCA2 mutation carriers . The diversity of recommendations (or not) received by male mutation carriers in this study is likely a reflection of the paucity of guidelines. Clearly, more information is needed on whether prostate screening is effective for BRCA1 and BRCA2 carriers so that evidence-based guidelines can be established for the management of this high risk group. We look forward to the results of the IMPACT study.
- Doherty R, Lubinski J, Manguoglu E, Luleci G, Christie M, Craven P, Bancroft E, Mitra A, Morgan S, Eeles R, on behalf of the IMPACT steering committee and collaborators: Short Report. The AIDIT and IMPACT conference 2006: Outcomes and future directions. Hereditary Cancer Clin Pract 2007, 5: 53–55. 10.1186/1897-4287-5-1-53View ArticleGoogle Scholar
- Liede A, Metcalfe K, Hanna D, Hoodfar E, Snyder C, Durham C, Lynch HT, Narod SA: Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. Am J Hum Genet 2000, 67: 1494–1504. 10.1086/316907PubMed CentralView ArticlePubMedGoogle Scholar
- Phillips KA, Butow PN, Stewart AE, Change JH, Weideman PC, Price MA, McLachlan SA, kConFab Investigators, Lindeman GJ, McKay MJ, Friedlander ML, Hopper JL, kConFab Investigators: Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort. Fam Cancer 2005, 4: 105–113. 10.1007/s10689-004-6129-xView ArticlePubMedGoogle Scholar
- Kathleen Cuningham Consortium for Research into Familial Breast Cancer: kConFab (homepage on the internet).[http://www.kconfab.org]
- Mann GJ, Thorne H, Balleine RL, Butow PN, Clarke CL, Edkins E, Evans GM, Fereday S, Haan E, Gattas M, Giles GG, Goldblatt J, Hopper JL, Kirk J, Leary JA, Lindeman G, Niedermayr E, Phillips KA, Picken S, Pupo GM, Saunders C, Scott CL, Spurdle AB, Suthers G, Tucker K, Chenevix-Trench G, Kathleen Cuningham Consortium for Research in Familial Breast Cancer: Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res 2006, 8: R12. 10.1186/bcr1377PubMed CentralView ArticlePubMedGoogle Scholar
- Phillips KA, Jenkins MA, Lindeman GJ, McLachlan SA, McKinley JM, Weideman PC, Hopper JL, Friedlander ML, kConFab Investigators: Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Clin Genet 2006, 70: 198–206. 10.1111/j.1399-0004.2006.00665.xView ArticlePubMedGoogle Scholar
- Familial aspects of cancer: a guide to clinical practice. Canberra, Biotext, NHMRC; 1999.Google Scholar