Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

What's known on the subject? and What does the study add? Scientists have found a number of genetic factors that increase prostate cancer risk, including heritable mutations in the genes BRCA1 and BRCA2. These mutations are not common but can have major impact, as a BRCA2 mutation increases ris...

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Detalles Bibliográficos
Autores: Mitra, AV, Bancroft, EK, Barbachano, Y, Page, EC, Foster, CS, Jameson, C, Mitchell, G, Lindeman, GJ, Stapleton, A, Suthers, G, Evans, DG, Cruger, D, Blanco, I, Mercer, C, Kirk, J, Maehle, L, Hodgson, S, Walker, L, Izatt, L, Douglas, F, Tucker, K, Dorkins, H, Clowes, V, Male, A, Donaldson, A, Brewer, C, Doherty, R, Bulman, B, Osther, PJ, Salinas, M, Eccles, D, Axcrona, K, Jobson, I, Newcombe, B, Cybulski, C, Rubinstein, WS, Buys, S, Townshend, S, Friedman, E, Domchek, S, Cajal, TRY, Spigelman, A, Teo, SH, Nicolai, N, Aaronson, N, Ardern-Jones, A, Bangma, C, Dearnaley, D, Eyfjord, J, Falconer, A, Gronberg, H, Hamdy, F, Johannsson, O, Khoo, V, Kote-Jarai, Z, Lilja, H, Lubinski, J, Melia, J, Moynihan, C, Peock, S, Rennert, G, Schroder, F, Sibley, P, Suri, M, Wilson, P, Bignon, YJ, Strom, S, Tischkowitz, M, Liljegren, A, Ilencikova, D, Abele, A, Kyriacou, K, van Asperen, C, Kiemeney, L, Easton, DF, Eeles, RA
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2011
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p12388
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12388
https://europepmc.org/articles/pmc6057750
Access Level:acceso abierto
Palabra clave:prostate cancer
BRCA1
BRCA2
PSA
genetic predisposition
Descripción
Sumario:What's known on the subject? and What does the study add? Scientists have found a number of genetic factors that increase prostate cancer risk, including heritable mutations in the genes BRCA1 and BRCA2. These mutations are not common but can have major impact, as a BRCA2 mutation increases risk by up to seven-fold while a BRCA1 mutation is thought to double risk in men under 65. The IMPACT study aims to determine whether targeted screening in men with a known BRCA1 or BRCA2 mutation would lead to earlier diagnosis of prostate cancers. This data from the IMPACT study adds to the increasing evidence that BRCA mutation carriers develop more aggressive disease. Although these are early results, it appears that PSA screening is more accurate at predicting potentially aggressive prostate cancer among men at higher risk of the disease due to a genetic predisposition than general population screening. This study provides support for continued screening in men with genetic mutations. OBJECTIVE To evaluate the role of targeted prostate cancer screening in men with BRCA1 or BRCA2 mutations, an international study, IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls), was established. This is the first multicentre screening study targeted at men with a known genetic predisposition to prostate cancer. A preliminary analysis of the data is reported. PATIENTS AND METHODS Men aged 40-69 years from families with BRCA1 or BRCA2 mutations were offered annual prostate specific antigen (PSA) testing, and those with PSA > 3 ng/mL, were offered a prostate biopsy. Controls were men age-matched (+/- 5 years) who were negative for the familial mutation. RESULTS In total, 300 men were recruited (205 mutation carriers; 89 BRCA1, 116 BRCA2 and 95 controls) over 33 months. At the baseline screen (year 1), 7.0% (21/300) underwent 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 center dot 6% (10/21). One prostate cancer was diagnosed at year 2. Of the 11 prostate cancers diagnosed, nine were in mutation carriers, two in controls, and eight were clinically significant. CONCLUSIONS 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. These results support the rationale for continued screening in such men.

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