Novel MRE11, NBS1 and RAD50 mutations
| Gene | Exon | Nt change | Effect on protein | Allele frequency* | ||
|---|---|---|---|---|---|---|
| Hereditary cases | Sporadic cases | Controls | ||||
| *Heterozygotes. | ||||||
| MRE11 | 10 | 913C→T | Arg305Trp | 0.7% (1/151) | − (0/192) | − (0/1000) |
| NBS1 | 4 | 448C→T | Leu150Phe | 0.7% (1/151) | − (0/192) | − (0/1000) |
| RAD50 | 5 | 687delT | Frameshift → stop codon at 234 | 1.3% (2/151) | − (0/192) | 0.6% (6/1000) |