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Table 1 Transheterozygote BRCA1 + BRCA2 mutations in 93 women

From: Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 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)   
  1. *Not included in the matched analysis because one of the mutations found in the TH was not found among the SH1/SH2 carriers
  2. HGVS Human Genome Variation Society, NR not reported