Table 3.
Prevalence and 95%confidence interval (CI) of BRCA1/2 mutations in epidemiological studies of male breast cancer (MBC)
| Study | Population | n tested | BRCA1 Carriers (%; 95%CI)* | Mutations | BRCA2 Carriers (%; 95%CI) | Mutations |
|---|---|---|---|---|---|---|
| Jewish MBC | ||||||
| Current a | a. Ashkenazi Jews | 188 | 7 (4%; 2-7%) | 185delAG | 17 (9%; 5-13%) | 6174delT |
| b. Non-Ashkenazi Jews | 55 | 1 (2%; 1-7%) | 4 (8%; 2-17%) | |||
| Frank et al (2002) (14) | MBC patients, USA. | 55 | 8 (28%; 5-18%) | 14 (18%; 11-28%) | ||
| a. Non-Ashkenazi Jews, USA. | 48 | 10b (28%; 11-33%) | ||||
| b. Ashkenazi Jews, USA | 28 | 11b (39%; 22-58%) | ||||
| Sverdlov et al (2000) (15) | a. High risk Ashkenazi Jews, Israel | 10 | 1 (10%; 0-34%) | 185delAG | 1 (10%; 0-34%) | 6174delT |
| b. Unselected Patients, Israel | 21 | 0 (0%; 0-16%) | 0 (0%; 0-16%) | |||
| Any MBC | ||||||
| Couch et al (1996)(25) | MBC patients, USA | 50 | 7 (14%; 6%-26%) | Three 6174delT, 1128insG, 3038delAA, 6299delA, 7989delC | ||
| Friedman et al (1997)(19) | MBC patients, S. California | 54 | 0 (0%; 0-7%) | 2 (4%; 5-10%) | ||
| Thorlacius et al (1997)(24) | MBC patients, Iceland | 30 | 12 (40%; 23%-56 %) | 999del5 | ||
| Haraldsson et al (1998)(23) | MBC patients, Sweden | 34 | 7 (21%; 9-36%) | G4186T, Three 4486delG, 6503delTT, 9326 insA, 9636delT | ||
| Csokay et al (1999)(20) | MBC/gynecomastia patients, Hungary | 18 | 0 (0%; 0-19%) | 6 (33%; 13-56%) | 4232insA, 277delAC, 3868insT, 7979delG, 841insCTTA, 9326insA | |
| Tirkkonen et al (1999)(21) | Invasive MBC patients, Sweden | 26 | 0 (0%; 0-13%) | 5 (19%; 7-36%) | G4186T, Two 4486delG, 6503delTT, 9326insA | |
| Kwiatkowska et al (2001)(26) | MBC patients, Poland | 37 | 4 (11%; 4-23%) | 8138del5, 6495del3insC, 8457insA, 2034insA | ||
| Basham et al (2002)(22) | MBC patients, UK | 94 | 0 (0%; 0-4%) | 5 (5%; 2-11%) | 253delC, 2192delC, 5974delCT, 7928delCT, 8474delAG | |
| Ottini et al (2003)(18) | Population-based series of MBC, Italy | 25 | 1 (4%; 0-14%) | 3345delAG | 3 (12%; 3-27%) | 6696delTC, 1003delA, 6010G→T |
a
Data Include 4 and 12 cases of 185delAG and 6174delT mutations respectively, among 89 Ashkenazi cases and 2 cases of 6174delT mutation among 21 Non-Ashkenazi Jews cases which were described in our earlier report(12).
b
Any Ashkenazi BRCA1 or BRCA2 founder mutations