Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history
Breast Cancer Research and Treatment
Peter Choon Eng Kang1,9, Sze Yee Phuah1,9, Kavitta Sivanandan1,9, In Nee Kang1,9, Eswary Thirthagiri1, Jian Jun Liu2, Norhashimah Hassan1,3, Sook-Yee Yoon1, Meow Keong Thong4, Miao Hui5, Mikael Hartman5,6, Cheng Har Yip7,8, Nur Aishah Mohd Taib3,8 and Soo Hwang Teo 1,3,10
1Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia
2Genome Institute of Singapore, Singapore
3University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia
4Department of Paediatrics, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia
5Saw Swee Hock School of Public Health and Department of Surgery, National University of Singapore, Singapore
6Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Sweden
7Sime Darby Medical Centre, Subang Jaya, Malaysia
8Department of Surgery, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia
9Joint first authors
10Corresponding author
Soo Hwang Teo:
Online Resource 1A: BRCA1 mutations tested
Mutation (BIC) / Mutation (HGVS) / AA change / Population/Country / References1 / 180 delA / c.61 delA / STOP 22 / Indian/Malaysia / [6]
2 / 185 delAG / c.68_69 delAG / STOP 39 / Indian/Malaysia, Singapore / [6, 30, 31]
3 / 185 insA / c.66 dupA / STOP 40 / Various / [6, 31]
4 / 269 delA / c.150 delA / STOP 68 / Indian/Malaysia / Novel
5 / 582 C>T / c.463 C>T / Q155X / Chinese/China / [32]
6 / 589 delCT / c.470_471 delCT / S157X / Chinese/Malaysia / [6, 24]
7 / 735 C>T / c.616 C>T / Q206X / Chinese/China / [32]
8 / 804 delT / c.685 delT / STOP 233 / Indian/Singapore / BIC
9 / 969 C>T / c.850 C>T / Q284X / Indian/Malaysia / Novel
10 / 1017 G>T / c.898 G>T / E300X / Singapore
11 / 1100 delAT / c.981_982 delAT / C328X / Chinese/Malaysia / [6, 26]
12 / 1129 delA / c.1016 delA / STOP 340 / Chinese/Hong Kong / [21, 33]
13 / 1173 G>T / c.1054 G>T / E352X / Indian/Malaysia / [6, 34]
14 / 1223 delA / c.1104 delA / STOP 373 / Chinese/Malaysia / Novel
15 / 1323 G>T / c.1204 G>T / E402X / Malay/Malaysia / [6]
16 / 1510 delC / c.1392 delC / STOP 474 / Chinese/Singapore / [35]
17 / 1523 delG / c.1405delG / STOP 474 / Chinese/Singapore / [35]
18 / 1966 ins7 / c.1847_1853 insAAGTCTT / STOP 626 / Malaysia
19 / 2189 del2 / c.2070_2071delAA / STOP 692 / Chinese/Malaysia / BIC
20 / 2371 del2 / c.2253_2254 delGT / STOP 760 / Chinese/Hong Kong / [33]
21 / 2430 insC / c.2311 insC / STOP 776 / Chinese/Singapore / [35]
22 / 2509 delAA / c.2390_2391 delAA / STOP 799 / Japanese/Japan / [36]
23 / 2732 insT / c.2617 dupT / STOP 902 / Chinese/Singapore / [35]
24 / 2754 G>T / c.2635 G>T / E879X / Chinese/Malaysia,Hong Kong / [21, 37]
25 / 2790 delT / c.2671 delT / STOP 892 / Chinese/China / [32]
26 / 2846 insA / c.2727 insA / STOP 914 / Malay/Singapore / [38]
27 / 2885 delA / c.2766 delA / STOP 999 / Indian/Singapore / [38]
28 / 3241 C>G / c.3122 C>G / S1041X / Japanese/Japan / [39]
29 / 3300 delA / c.3181 delA / I1061X / Thai/Thailand / [40]
30 / 3378 delG / c.3262 delG / STOP 1108 / Chinese/Singapore / [35]
31 / 3407 del2 / c.3288_3289 delAA / STOP 1101 / Malaysia
32 / 3478 del5 / c.3359_3363 delTTAAT / STOP 1130 / Chinese/China / [41]
33 / 3672 G>T / c.3553 G>T / E1185X / Indian/India / [42]
34 / 3867 G>T / c.3748 G>T / E1250X / Indian/India / [43]
35 / 3874 del4 / c.3756_3759 delGTCT / STOP 1262 / Chinese/China / [44]
36 / 3889 del2 / c.3770_3771 delAG / STOP 1265 / Indian/Pakistan / [31]
37 / 3975 delA / c.3856 delA / STOP 1306 / Malay/Malaysia / Novel
38 / 4267 C>G / c.4148 C>G / S1383X / Chinese/Malaysia / Novel
39 / 4377 C>T / c.4258 C>T / Q1420X / Chinese/Malaysia / Novel
40 / 4446 C>T / c.4327 C>T / R1443X / Chinese/Singapore / [35]
41 / 4491 C>T / c.4372 C>T / Q1458X / Chinese/Hong Kong / [24]
42 / 4731 C>T / c.4612 C>T / Q1538X / Filipino/Philippines / [45]
43 / 4920 A>T / c.4801 A>T / K1601X / Chinese/Singapore / [30]
44 / 5370 C>T / c.5251 C>T / R1751X / Indian/Malaysia / [6, 46]
45 / 5447 insC / c.5328 dupC / STOP 1829 / Malay/Malaysia / [23]
46 / 5454 delC / c.5335 delC / STOP 1792 / Filipino/Philippines / [45]
47 / 5589 del8 / c.5470_5477del8 / STOP 1826 / Chinese/China / [26]
48 / 5622 C>T / c.5503 C>T / R1835X / Filipino/Philippines / [45]
49 / IVS 3+1 G>T / c.134+1 G>T / Chinese/Malaysia / [6]
50 / IVS 3+2 delT / c.134+2 delT / Chinese/Malaysia / [6]
51 / IVS 4-1 G>C / c.135-1 G>C / Indian/Malaysia / [6]
52 / IVS 5+1 G>T / c.212+1 G>T / Indian/India / [47]
53 / IVS 5-12 A>G / c.213-12 A>G / Various / BIC
54 / IVS 7-15 del10 / c.442-15 del10 / Chinese/Singapore / [30]
55 / IVS 21+1 G>C / c.5332+1 G>C / Chinese/China / [26]
Online Resource 1B: BRCA2 mutations tested
Mutation (BIC) / Mutation (HGVS) / AA change / Population/Country / References1 / 490 delCT / c.262_263delCT / STOP 99 / Malay/Malaysia / [6, 48]
2 / 1037C>G / c.809C>G / S270X / Chinese/Malaysia / BIC
3 / 1184 insA / c.956_957 insA / STOP 326 / Chinese/Malaysia / BIC, [6]
4 / 2001 del4 / c.1773_1776 del4 / STOP 612 / Chinese/Malaysia / [49]
5 / 2041 delA / c.1813_1813 delA / STOP 613 / Chinese/Thailand / [40]
6 / 2041 insA / c.1813_1814 insA / STOP 615 / Indian/Malaysian / BIC
7 / 2670 delC / c.2442_2442 delC / STOP 824 / Chinese/China, Taiwan / [26, 50]
8 / 2699 del6 / c.2471_2476delTAAATG / STOP 824 / Javanese/Indonesia / [51]
9 / 2822 del4 / c.2596_2599 delGAAA / STOP 872 / Chinese/Singapore / [30]
10 / 2864 delCT / c.2636_2637 delCT / STOP 879 / Chinese/Malaysia / [6]
11 / 3036delACAA / c.2808_2811delACAA / STOP 958 / Chinese/China / BIC, [26]
12 / 3337 C>T / c.3109 C>T / Q1037X / Indian/Pakistan / [31]
13 / 3423del4 / c.3195_3198delTAAT / STOP 1075 / Chinese/China / BIC, [26]
14 / 3827del2 / c.3599_3600delGT / STOP 1200 / Chinese/Malaysia / [45]
15 / 3972del4 / c.3744_3747delTGAG / STOP 1257 / Chinese/China / BIC, [26]
16 / 4093del4 / c.3865_3868delAAAT / STOP 1291 / Indian / Malaysia / BIC
17 / 4242 insGG / c.4014_4015insGG / STOP 1374 / Indian / Malaysia / BIC
18 / 4265 delCT / c.4037_4038delCT / STOP 1350 / Malay/Malaysia,
Philippines / [45]
19 / 4379 delT / c.4151_4151delT / STOP 1387 / Chinese/Singapore / [30]
20 / 5227 insT / c.4999_5000insT / STOP 1676 / Indian/India / [42]
21 / 5242 insT / c.5014_5015insT / STOP 1676 / Indian/India / [42]
22 / 5301 insA / c.5073_5074 insA / STOP 1694 / Chinese/China / BIC, [49] HUKM
23 / 5802del4 / c.5576_5579delTTAA / STOP 1861 / Chinese/China, Singapore, Japan, Korea / BIC, [26, 30, 52]
24 / 5873 C>A / c.5645 C>A / S1882X / Chinese/Malaysia, China, Japan / [39, 53, 54]
25 / 5950 delCT / c.5722_5723 delCT / STOP 1909 / Chinese/Hong Kong, China / BIC, [21, 26, 49, 52]
26 / 6174delT / c.5946_5946 delT / STOP 2003 / Chinese/China / BIC, [42, 55]a
27 / 6180 insA / c.5952_5953insA / STOP 2002 / Indian/India / [42]
28 / 6195 insA / c.5967_5968insA / STOP 2002 / Malay/Malaysia / [6]
29 / 6553 delGT / c.6325_6326 delGT / STOP 2109 / Chinese/Malaysia / [6]
30 / 6769G>T / c.6541G>T / G2181X / Malay/Malaysia / Novel
31 / 6862 del4 / c.6634_6637delTGTT / STOP 2227 / Malay/Singapore / [30]
32 / 6901 delA / c.6673_6673 delA / STOP 2228 / Chinese/Malaysia / [6]
32 / 6943 G>T / c.6715 G>T / E2239X / Indian/Malaysia / [6]
33 / 7051_7053 delGAG / c.6823_6825delGAG / E2275del / Chinese/Malaysia / Novel
34 / 7361 C>G / c.7133 C>G / S2378X / Chinese/Malaysia / Novel
35 / 7786 C>T / c.7558 C>T / R2520X / Chinese/Malaysia / BIC, HUKMb
36 / 8462 del4 / c.8234_8237delTGAC / STOP 2775 / Malaysia / BIC; HUKM-HKL
37 / 9097 C>T / c.8869 C>T / Q2957X / Indian/Malaysia / [6]
38 / 9118 insA / c.8890_8891insA / STOP 3017 / Chinese/Singapore / [30]
39 / 9143 delT / c.8915_8915delT / STOP 2975 / Chinese/Singapore / [30]
40 / 9187 del4 / c.8959_8962delCTGA / STOP 2999 / Singapore
41 / 9189 del4 / c.8961_8964delGAGT / STOP 2999 / Malaysia / BIC, HUKM-HKL
42 / 9325 delA / c.9097_9097delA / STOP 3061 / Chinese/Singapore / [30]
43 / 9326 insA / c.9098_9099insA / STOP 3042 / Chinese/Malaysia / [6]
44 / IVS15+1G>A / c.7617+1G>A / Chinese/Singapore / [30]
a Reported in Exome Sequencing Project with minor allele frequency of 0.016% in Caucasian population. None of the other mutations were reported in Exome Sequencing Project, 1000 Genomes, or dbSNP.
b Reported in Exome Sequencing Project with minor allele frequency of 0.0077% in Caucasian population.