Table 1 Details of rare gene variants
From: BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
Family history (age at diagnosis) | ||||||
|---|---|---|---|---|---|---|
Patient | Gene | Variant | Effect | Age* | First-degree relatives | Second-degree relatives |
Protein truncating mutations | ||||||
M0271 | BRCA2 | 253delC | Frameshift | 48 | None | MGM Br(?age) |
M0041 | BRCA2 | 2192delC | Frameshift | 55 | F Pa(74) | PU Pa(42), PA Br(48), PA Pa(63) |
M0040 | BRCA2 | 5974delCT | Frameshift | 60 | F Pr(61) | None |
M0293 | BRCA2 | 7928delCT | Frameshift | 69 | M Br(67) | None |
M0238 | BRCA2 | 8474delAG | Frameshift | 62 | F Pr + Ki(75) | None |
Missense variants of unknown significance | ||||||
M0383 | BRCA1 | 2640C > T | R841W | 63 | None | None |
M0016 | BRCA2 | 5972T > C | T1915M | 74 | F HN(85), B Lu(50's) | None |
M0021 | BRCA2 | 5972T > C | T1915M | 72 | None | None |
M0288 | BRCA2 | 4486G > T | D1420Y | 55 | M Br(77) | None |