Gene | Common mutation designation a | HGVS mutation designation | Histological subtypes (%) | ||||
---|---|---|---|---|---|---|---|
Serous (n = 92) | Endometrioid (n = 9) | Mixed cell (n = 12) | Undifferentiated (n = 3) | All types (n = 116) | |||
BRCA1 | G1081A | c.962G > A | 1 (1.1) | 0 | 0 | 0 | 1 (0.9) |
1135insA | c.1016dupA | 0 | 0 | 0 | 0 | 0 | |
E352X | c.1054G > T | 0 | 1 (11.1) | 0 | 0 | 1 (0.9) | |
2080insA | c.1961dupA | 0 | 0 | 0 | 0 | 0 | |
2244insA | c.2125_2126insA | 1 (1.1) | 0 | 1 (8.3) | 0 | 2 (1.7) | |
2953delGTAinsC b | c.2834_2836delGTAinsC | 0 | 0 | 1 (8.3) | 0 | 1 (0.9) | |
3768insAb | c.3649_3650insA | 0 | 0 | 0 | 0 | 0 | |
3875del4 | c.3756_3759delGTCT | 0 | 0 | 0 | 0 | 0 | |
C4446T b | c.4327C > T | 8 (8.7) | 0 | 0 | 0 | 8 (6.9) | |
5221delTG | c.5102_5103delTG | 0 | 0 | 0 | 0 | 0 | |
Q1846X | c.5536C > T | 0 | 0 | 0 | 0 | 0 | |
All BRCA1 variants | Â | Â | 10 (10.9) | 1 (11.1) | 2 (16.7) | 0 | 13 (11.2) |
BRCA2 | 2816insAb | c.2588dupA | 0 | 0 | 0 | 0 | 0 |
3034del4 | c.2806_2809delAAAC | 0 | 0 | 0 | 0 | 0 | |
3398del5 | c.3170_3174delAGAAA | 0 | 0 | 0 | 0 | 0 | |
3773delTT | c.3545_3546delTT | 0 | 0 | 0 | 1 (33.3) | 1 (0.9) | |
G6085T b | c.5857G > T | 1 (1.1) | 0 | 0 | 0 | 1 (0.9) | |
6503delTTb | c.6275_6276delTT | 0 | 0 | 0 | 0 | 0 | |
8765delAG b | c.8537_8538delAG | 2 (2.2) | 0 | 0 | 0 | 2 (1.7) | |
E3002K | c.9004G > A | 2c (2.2) | 0 | 0 | 0 | 2 (1.7) | |
All BRCA2 variants | Â | Â | 5 (5.4) | 0 | 0 | 1 (33.3) | 6 (5.2) |
All BRCA1 and BRCA2 variants | Â | Â | 15 (16.3) | 1 (11.1) | 2 (16.7) | 1 (33.3) | 19 (16.4) |