Risk of prostate cancer associated with BRCA1/2 Ashkenazi Jewish (AJ) founder mutations (literature review)
| Study | Population | Number (%) of individual subjects tested | Outcomes | |||
|---|---|---|---|---|---|---|
| n | BRCA1 | BRCA2 6174delT | ||||
| 185delAG | 5382insC | |||||
| AJ, Ashkenazi Jew. | ||||||
| Kin cohort | ||||||
| Struewing et al1 | N. American AJ volunteers; mutation carriers and non-carriers | 5318 | 41 (0.8) | 20 (0.4) | 59 (1.2) | Risk of prostate cancer by 60 and 80 years of age among first degree relatives of volunteers: with mutations 16%, 39%; without mutations 1%, <10%, respectively |
| Foulkes et al2 | N. American AJ women with breast cancer | 412 | 26 (6.3) | 8 (1.9) | 15 (3.6) | Risk of prostate cancer by the age of 85 years among first degree relatives of Jewish breast cancer cases: with mutations 34%; without mutations 13% |
| Case–control | ||||||
| Hubert et al3 | Unselected Israeli AJ prostate cancer cases. | 87 | 2/87 | 1/87 | No difference in carrier frequency between cases and controls. PSA and Gleason score at diagnosis higher among carrier patients than among non-carriers. Carrier cases were more likely to have multiple primary tumours | |
| Elderly Israeli AJ male controls | 87 | 2/87 | — | 1/87 | ||
| Case series | ||||||
| Lehrer et al4 | N. American AJ prostate cancer recruited from urology/radiation oncology clinics | 60 | 0/60 | — | 0/60 | No carriers identified |
| Nastiuk et al5 | N. American AJ with prostate cancer; pathology review. | 83 | 1(1.2) | — | 2 (2.4) | Carrier frequency not elevated compared with population estimates |
| Vazina et al6 | Unselected Israeli AJ men with prostate cancer; pathology review | 95 | 2/87(2.3) | 2/60(3.3) | 1/86 (1.2) | No mutation detected in any patient diagnosed prior to the age of 55 years. While reported as a negative study, the results, when limited to the Ashkenazi subset, appear consistent with an increased risk among BRCA1 mutation carriers compared with population estimates. |