Table 4.
BRCA1 mutation rate (according to the Human Genome Variation Society (HGVS)) and its link to BC in the analyzed group.
| Locus | HGVS | Amino-Acid | Mutation | Nb. | Percentage | |
|---|---|---|---|---|---|---|
| 1 | chr17:41209079 | c.5266dupC | p.Gln1777fs | Frameshift Insertion | 11 | 36.67% |
| 2 | chr17:41234559 | c.4218delG | p.Lys1406fs | Frameshift Deletion | 1 | 3.33% |
| 3 | chr17:41276044 | c.68_69delAG | p.Glu23fs | Frameshift Deletion | 1 | 3.33% |
| 4 | chr17:41243941 | c.3607C>T | p.Arg1203Ter | Nonsense | 9 | 30% |
| 5 | chr17:41245861 | c.1687C>T | p.Gln563Ter | Nonsense | 2 | 6.67% |
| 6 | chr17:41258504 | c.181T>G | p.Cys61Gly | Missense | 4 | 13.34% |
| 7 | chr17:41226539 | c.4485-1G>T | Splice site | 1 | 3.33% | |
| 8 | chr17:41258472 | c.212+1G>T | Splice site | 1 | 3.33% | |
| Total | 30 | 100% |