Table 1 Transheterozygote BRCA1 + BRCA2 mutations in 93 women
BRCA1 mutation | BRCA2 mutation | N | % | Breast cancer only | Ovarian cancer only | Breast + ovarian cancer | No cancer | Self-identified race/ethnicity | Country of ascertainment | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGVS: genomic level | HGVS: genomic level | ||||||||||||
n | % | n | % | n | % | n | % | ||||||
c.-19-?_80 + ?dup | c.8633-?_8754 + ?amp* | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Jewish | Hungary |
c.68_69delAG | c.5946delT | 31 | 33.3 | 13 | 13.9 | 1 | 1.1 | 3 | 3.2 | 14 | 15.0 | Caucasian, Jewish, NR | USA, Hungary, Israel |
c.68_69delAG | c.5722_5723delCT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.1016delA | c.7379_7382delACAA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Asian | USA |
c.1390delA* | c.658_659delGT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Hispanic | USA |
c.1504_1508del5 | c.2798_2799delCA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Asian | Korea |
c.1504_1508del5 | c.462_463delAA | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | Germany |
c.1687C > T | c.6469C > T | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | Italy |
c.1793 T > ? | c.8537_8538delAG | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | USA |
c.181 T > G | c.1318_1319dupCT | 3 | 3.2 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 2 | 2.2 | Caucasian | Austria |
c.211A > G | c.4380_4381delTT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | UK |
c.212 + 1G > A | c.739_740delAT* | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Spain |
c.213-12A > G | c.7180A > T | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Italy |
c.2389G > T | c.3068dupA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Canada |
c.2405_2406delTG | c.4284dupT | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | Italy |
c.246delT | c.517-2A > G | 2 | 2.2 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | Caucasian | UK |
c.301 + 1G > A | c.5682C > G | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | USA |
c.3048_3052dup5 | c.2830A > T | 2 | 2.2 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | NR | Sweden |
c.3155delA | c.3160_ 3163delGATA | 2 | 2.2 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | Caucasian | Australia |
c.3196G > T* | c.658_659delGT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.3228_3229delAG | c.3689delC | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | Caucasian | UK |
c.3228_3229delAG | c.9253dupA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Italy |
c.3400G > T | c.2808_2811delACAA | 2 | 2.2 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | Caucasian | UK |
c.3477_3480 delAAAG | c.9401delG | 1 | 1.1 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | Caucasian | Italy |
c.3627dupA | c.6724_6725delGA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Asian | Korea |
c.3700_3704del5 | c.681 + 1G > A | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Australia |
c.3700_3704del5 | c.1815dupA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.3756_3759delGTCT | c.7757G > A | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | USA |
c.3759_3760delTA | c.9699_9702 delTATG | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Hispanic | USA |
c.3770_3771delAG | c.5946delT | 2 | 2.2 | 1 | 1.1 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | NR, Jewish | Australia, USA |
c.3839_3843 delinsAGGC | c.1636delT | 2 | 2.2 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | 1 | 1.1 | NR | France |
c.390C > A | c.3018delA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Asian | Korea |
3910delG | c.2830A > T | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.3916_3917delTT | c.5380delG* | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | Italy |
c.4035delA | c.658_659delGT | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | Caucasian | Australia |
c.4065_4068delTCAA | c.5350_5351delAA | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | USA |
c.4186-?_4357 + ?dup | c.2636_2637delCT | 2 | 2.2 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | Caucasian | UK |
c.427G > T | c.8730delT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Denmark |
c.5030_5033 delCTAA | c.1399A > T | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Asian | Korea |
c.5123C > A | c.6275_6276delTT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.5136G > A | c.4965delC | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Asian | USA |
c.5193 + 1delG | c.658_659delGT | 1 | 1.1 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.5251C > T | c.6753_6754delTT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Austria |
c.5266dupC | c.8364G > A | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Austria |
c.5266dupC | c.5946delT | 5 | 5.4 | 3 | 3.2 | 0 | 0.0 | 1 | 1.1 | 1 | 1.1 | Jewish | UK, Israel |
c.5266dupC | c.4478_4481delAAAG | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
c.5266dupC | c.5645C > A | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | Germany |
c.5406 + 664_*8273del | c.9748dupT | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Greece |
c.548-?_4185 + ?del | c.2269A > T* | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 1 | 1.1 | 0 | 0.0 | Caucasian | Germany |
c.962G > A | c.2231C > G | 1 | 1.1 | 1 | 1.1 | 0 | 0.0 | 0 | 0.0 | 0 | 0.0 | Caucasian | Germany |
Total | 93 | 100 | 51 | 54.8 | 4 | 4.3 | 13 | 14.0 | 25 | 26.9 | |||
Mean age (range) | 39.9 (23–67) | 59.2 (57–62) | 41.9 (26–53) | 39.1 (20–68) | |||||||||