Online Resource 1A: BRCA1 mutations tested
1
2
3
4
5
Mutation (BIC)
180 delA
185 delAG
185 insA
269 delA
582 C>T
Mutation (HGVS)
c.61 delA
c.68_69 delAG
c.66_67 insA
c.150 delA
c.463 C>T
AA change
STOP 22
STOP 39
STOP 40
STOP 68
Q155X
6
589 delCT
c.470_471 delCT
S157X
735 C>T
804 delT
969 C>T
1017 G>T
1100 delAT
1129 delA
1173 G>T
1223 delA
1323 G>T
1510 delC
1523 delG
1966 ins7
2189 del2
2371 del2
2430 insC
2509 delAA
2732 insT
2754 G>T
2790 delT
2846 insA
2885 delA
3241 C>G
3300 delA
3381 delG
3407 del2
3478 del5
3672 G>T
3867 G>T
3874 del4
3889 del2
3975 delA
4267 C>G
4377 C>T
4446 C>T
4491 C>T
4731 C>T
4920 A>T
5370 C>T
5447 insC
5454 delC
5589 del8
5622 C>T
IVS 3+1 G>T
IVS 3+2 delT
IVS 4-1 G>C
IVS 5+1 G>T
IVS 5-12 A>G
IVS 7-15 del10
IVS 21+1 G>C
c.616 C>T
c.685 delT
c.850 C>T
c.898 G>T
c.981_982 delAT
c.1010 delA
c.1054 G>T
c.1104 delA
c.1204 G>T
c.1392 delC
c.1405 delG
c.1847_1848 insAAGTCTT
c.2070_2071 delAA
c.2252_2253 delTG
c.2311_2312 insC
c.2390_2391 delAA
c.2617 dupT
c.2635 G>T
c.2671 delT
c.2727 insA
c.2766 delA
c.3122 C>G
c.3181 delA
c.3262 delG
c.3288_3289 delAA
c.3359_3363 delTTAAT
c.3553 G>T
c.3748 G>T
c.3755_3758 del4
c.3770_3771 delAG
c.3856 delA
c.4148 C>G
c.4258 C>T
c.4327 C>T
c.4372 C>T
c.4612 C>T
c.4801 A>T
c.5251 C>T
c.5328 dupC
c.5335 delC
c.5470_5477 del8
c.5503 C>T
c.134+1 G>T
c.134+2 delT
c.135-1 G>C
c.212+1 G>T
c.213-12 A>G
c.442-15 del10
c.5332+1 G>C
Q206X
STOP 233
Q284X
E300X
STOP 328
STOP 340
E352X
STOP 373
E402X
STOP 474
STOP 474
STOP 626
STOP 692
STOP 760
STOP 776
E797X
STOP 902
E879X
STOP 892
STOP 914
STOP 999
S1041X
I1061X
STOP 1108
STOP 1101
STOP 1130
E1185X
E1250X
STOP 1262
STOP 1265
STOP 1306
S1383X
Q1420X
R1443X
Q1458X
Q1538X
K1601X
R1751X
STOP 1829
STOP 1792
STOP 1826
R1835X
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
Population/Country
Indian/Malaysia
Indian/Malaysia, Singapore
Chinese/Malaysia, Various
Indian/Malaysia
Chinese/China
Chinese/Malaysia, Chinese/Hong
Kong
Chinese/China
Indian/Singapore
Indian/Malaysia
Singapore
Chinese/Malaysia, China
Chinese/Hong Kong
Indian/Malaysia
Chinese/Malaysia
Malay/Malaysia
Chinese/Singapore
Chinese/Singapore
Chinese/Malaysia
Chinese/Malaysia
Chinese/Hong Kong
Chinese/Singapore
Japanese/Japan
Chinese/Singapore
Chinese/Malaysia,Hong Kong
Chinese/China
Malay/Singapore
Indian/Singapore
Japanese/Japan
Thai/Thailand
Chinese/Singapore
Malay/Malaysia
Chinese/China
Indian/India
Indian/India
Chinese/China
Indian/Pakistan
Malay/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Chinese/Singapore
Chinese/Hong Kong
Filipino/Philippines
Chinese/Singapore
Indian/Malaysia
Malay/Malaysia
Filipino/Philippines
Chinese/China
Filipino/Philippines
Chinese/Malaysia
Chinese/Malaysia
Indian/Malaysia
Chinese/HongKong, Indian/India
Chinese/Malaysia
Chinese/Singapore
Chinese/China
References
[1]
[1,2]
[1,3]
BIC, CARIF*
[4]
[1,5]
[4]
BIC
CARIF*
*
[1,6]
[7,8]
[1]
CARIF*
[1]
[9]
[9]
*
HUKM*
[8]
[9]
[10-12]
[9]
[7]
[4]
[13]
[13]
[14]
[15]
[9]
CARIF*
[6,16]
[17]
[18]
[19]
[3]
BIC, CARIF*
BIC, CARIF*
BIC, CARIF*
[9]
[5]
[20]
[2]
[1,21]
[22]
[20]
[6]
[20]
[1]
[1]
[1]
[7,23]
BIC, CARIF*
[2]
[6]
Online Resource 1B: BRCA2 mutations tested
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
Mutation (BIC)
490 delCT
1037C>G
1184 insA
2001 del4
2041 delA
2041 insA
2670 delC
2699 del6
2822 del4
2864 delCT
3036 delACAA
3337 C>T
3423 del4
3827del2
3972 del4
4093 del4
4242 insGG
4265 delCT
4379 delT
5227 insT
5242 insT
5301 insA
5802 del4
5873 C>A
5950 delCT
6174 delT
6180 insA
6195 insA
6553 delGT
6769 G>T
6862 del4
6901 delA
6943 G>T
7051_7053 delGAG
7361 C>G
7786 C>T
8462 del4
9097 C>T
9118 insA
9143 delT
9189 del4
9325 delA
9326 insA
IVS15+1G>A
Mutation (HGVS)
c.262_263 delCT
c.809 C>G
c.956_957 insA
c.1773_1776 delTTAT
c.1813_1813 delA
c.1813_1814 insA
c.2442_2442 delC
c.2471_2476 delTAAATG
c.2596_2599 delGAAA
c.2636_2637 delCT
c.2808_2811 delACAA
c.3109 C>T
c.3195_3198 delTAAT
c.3599_3600 delGT
c.3744_3747 delTGAG
c.3865_3868 delAAAT
c.4014_4015 insGG
c.4037_4038 delCT
c.4151_4151 delT
c.4999_5000 insT
c.5014 dup
c.5073_5074 insA
c.5574_5577 delAATT
c.5645 C>A
c.5722_5723 delCT
c.5946_5946 delT
c.5952_5953 insA
c.5967_5968 insA
c.6325_6326 delGT
c.6541 G>T
c.6634_6637 delTGTT
c.6673_6673 delA
c.6715 G>T
c.6823_6825 delGAG
c.7133 C>G
c.7558 C>T
c.8234_8237 delTGAC
c.8869 C>T
c.8890_8891 insA
c.8915_8915 delT
c.8961_8964 delGAGT
c.9097_9097 delA
c.9098_9099 insA
c.7617+1 G>A
*unpublished
BIC- Breast Cancer Information Core database
CARIF- Cancer Research Initiatives Foundation
HKL- Hospital Kuala Lumpur
HUKM -National University of Malaysia Medical Centre
AA change
STOP 99
S270X
STOP 326
STOP 612
STOP 613
STOP 615
STOP 824
STOP 824
STOP 872
STOP 879
STOP 958
Q1037X
STOP 1075
C1200X
STOP 1257
STOP 1291
STOP 1374
STOP 1350
STOP 1387
STOP 1676
STOP 1676
STOP 1694
STOP 1861
S1882X
STOP 1909
STOP 2003
STOP 2002
STOP 2002
STOP 2109
G2181X
STOP 2227
STOP 2228
E2239X
E2275del
S2378X
R2520X
STOP 2775
Q2957X
STOP 3017
STOP 2975
STOP 2999
STOP 3061
STOP 3042
Population/Country
Malay/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Chinese/Thailand
Indian/Malaysian
Chinese/China, Taiwan
Javanese/Indonesia
Chinese/Singapore
Chinese/Malaysia
Chinese/Malaysia
Indian/Pakistan
Chinese/China
Chinese/Malaysia, Philippines
Chinese/China
Indian / Malaysia
Indian/Malaysia
Malay/Malaysia, Philippines
Chinese/Singapore
Indian/India
Indian/India
Malay/Malaysia
Chinese/China,
Chinese/Malaysia,
Chinese/Hong Kong, China
Chinese/China
Indian/India
Malay/Malaysia
Chinese/Malaysia
Malay/Malaysia
Malay/Singapore
Chinese/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Chinese/Malaysia
Indian/Malaysia
Chinese/Singapore
Chinese/Singapore
Chinese/Malaysia
Chinese/Singapore
Chinese/Malaysia
Chinese/Singapore
References
[1]
BIC, CARIF*
[1]
BIC, CARIF*
[15]
CARIF*
[6,24]
[25]
[2]
[1]
BIC, CARIF*
[3]
[6]
[20]
[6]
BIC, CARIF*
HKL*
[20]
[2]
[17]
[17]
HKL*
[6,26]
BIC, CARIF*
[7,6,27,26]
[28]
[17]
[1]
[1]
CARIF*
[2]
[1]
[1]
BIC, CARIF*
BIC, CARIF*
BIC, CARIF*
HKL*
[1]
[2]
[2]
HKL*
[2]
[1]
[2]
Online Resource References
1. Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH (2008)
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia)
with a relatively low incidence of breast cancer. Breast Cancer Res 10 (4):R59. doi:10.1186/bcr2118
2. Ang P, Lim IH, Lee TC, Luo JT, Ong DC, Tan PH, Lee AS (2007) BRCA1 and BRCA2 mutations in an Asian clinicbased population detected using a comprehensive strategy. Cancer Epidemiol Biomarkers Prev 16 (11):22762284. doi:10.1158/1055-9965.EPI-07-0403
3. Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA (2002) Contribution of BRCA1 and BRCA2
mutations to breast and ovarian cancer in Pakistan. American journal of human genetics 71 (3):595-606
4. Hu Z, Wu J, Liu CH, Lu JS, Luo JM, Han QX, Shen ZZ, Shao ZM (2003) The analysis of BRCA1 mutations in
eastern Chinese patients with early onset breast cancer and affected relatives. Human mutation 22 (1):104.
doi:10.1002/humu.9156
5. Tang NL, Pang CP, Yeo W, Choy KW, Lam PK, Suen M, Law LK, King WW, Johnson P, Hjelm M (1999)
Prevalence of mutations in the BRCA1 gene among Chinese patients with breast cancer. Journal of the National
Cancer Institute 91 (10):882-885
6. Li WF, Hu Z, Rao NY, Song CG, Zhang B, Cao MZ, Su FX, Wang YS, He PQ, Di GH, Shen KW, Wu J, Lu JS, Luo JM,
Liu XY, Zhou J, Wang L, Zhao L, Liu YB, Yuan WT, Yang L, Shen ZZ, Huang W, Shao ZM (2008) The prevalence of
BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two
recurrent mutations were identified. Breast cancer research and treatment 110 (1):99-109.
doi:10.1007/s10549-007-9708-3
7. Kwong A, Wong LP, Wong HN, Law FB, Ng EK, Tang YH, Chan WK, Ho LS, Kwan KH, Poon M, Wong TT, Leung
FC, Chan SW, Ying MW, Ma ES, Ford JM (2009) A BRCA2 founder mutation and seven novel deleterious BRCA
mutations in southern Chinese women with breast and ovarian cancer. Breast cancer research and treatment
117 (3):683-686. doi:10.1007/s10549-009-0385-2
8. Khoo US, Ngan HY, Cheung AN, Chan KY, Lu J, Chan VW, Lau S, Andrulis IL, Ozcelik H (2000) Mutational
analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. Human
mutation 16 (1):88-89. doi:10.1002/1098-1004(200007)16:1<88::AID-HUMU16>3.0.CO;2-G
9. Sng JH, Chang J, Feroze F, Rahman N, Tan W, Lim S, Lehnert M, van der Pool S, Wong J (2000) The prevalence
of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. British journal of
cancer 82 (3):538-542. doi:10.1054/bjoc.1999.0960
10. Emi M, Matsushima M, Katagiri T, Yoshimoto M, Kasumi F, Yokota T, Nakata T, Miki Y, Nakamura Y (1998)
Multiplex mutation screening of the BRCA1 gene in 1000 Japanese breast cancers. Japanese journal of cancer
research : Gann 89 (1):12-16
11. Katagiri T, Emi M, Ito I, Kobayashi K, Yoshimoto M, Iwase T, Kasumi F, Miki Y, Skolnick MH, Nakamura Y
(1996) Mutations in the BRCA1 gene in Japanese breast cancer patients. Human mutation 7 (4):334-339.
doi:10.1002/(SICI)1098-1004(1996)7:4&lt;334::AID-HUMU7&gt;3.0.CO;2-8
12. Noguchi S, Kasugai T, Miki Y, Fukutomi T, Emi M, Nomizu T (1999) Clinicopathologic analysis of BRCA1- or
BRCA2-associated hereditary breast carcinoma in Japanese women. Cancer 85 (10):2200-2205
13. Ho GH, Phang BH, Ng IS, Law HY, Soo KC, Ng EH (2000) Novel germline BRCA1 mutations detected in
women in singapore who developed breast carcinoma before the age of 36 years. Cancer 89 (4):811-816
14. Ikeda N, Miyoshi Y, Yoneda K, Shiba E, Sekihara Y, Kinoshita M, Noguchi S (2001) Frequency of BRCA1 and
BRCA2 germline mutations in Japanese breast cancer families. International journal of cancer Journal
international du cancer 91 (1):83-88
15. Patmasiriwat P, Bhothisuwan K, Sinilnikova OM, Chopin S, Methakijvaroon S, Badzioch M, Padungsutt P,
Vattanaviboon P, Vattanasapt V, Szabo C, Saunders GF, Goldgar D, Lenoir GM (2002) Analysis of breast cancer
susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer.
Human mutation 20 (3):230. doi:10.1002/humu.9049
16. Chen W, Pan K, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Lu Y, You W, Xie Y (2009) BRCA1 germline
mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. Breast
cancer research and treatment 117 (1):55-60. doi:10.1007/s10549-008-0066-6
17. Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN (2004) Novel germline mutations in the BRCA1 and
BRCA2 genes in Indian breast and breast-ovarian cancer families. Human mutation 23 (2):205.
doi:10.1002/humu.9213
18. Valarmathi MT, A A, Deo SS, Shukla NK, Das SN (2003) BRCA1 germline mutations in Indian familial breast
cancer. Human mutation 21 (1):98-99. doi:10.1002/humu.9099
19. Deng S, Wang Y, Ke Y, Xu G (2003) [Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients].
Beijing Da Xue Xue Bao 35 (4):373-376
20. De Leon Matsuda ML, Liede A, Kwan E, Mapua CA, Cutiongco EM, Tan A, Borg A, Narod SA (2002) BRCA1
and BRCA2 mutations among breast cancer patients from the Philippines. International journal of cancer
Journal international du cancer 98 (4):596-603
21. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS (2007) Prevalence of
pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. Jama 298 (24):2869-2876.
doi:10.1001/jama.298.24.2869
22. Balraj P, Khoo AS, Volpi L, Tan JA, Nair S, Abdullah H (2002) Mutation analysis of the BRCA1 gene in
Malaysian breast cancer patients. Singapore Med J 43 (4):194-197
23. Saxena S, Szabo CI, Chopin S, Barjhoux L, Sinilnikova O, Lenoir G, Goldgar DE, Bhatanager D (2002) BRCA1
and BRCA2 in Indian breast cancer patients. Human mutation 20 (6):473-474. doi:10.1002/humu.9082
24. Li SS, Tseng HM, Yang TP, Liu CH, Teng SJ, Huang HW, Chen LM, Kao HW, Chen JH, Tseng JN, Chen A, Hou
MF, Huang TJ, Chang HT, Mok KT, Tsai JH (1999) Molecular characterization of germline mutations in the
BRCA1 and BRCA2 genes from breast cancer families in Taiwan. Hum Genet 104 (3):201-204
25. Purnomosari D, Paramita DK, Aryandono T, Pals G, van Diest PJ (2005) A novel BRCA2 mutation in an
Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled
denaturing gradient gel electrophoresis and targeted sequencing. Journal of clinical pathology 58 (5):493-499.
doi:10.1136/jcp.2004.020388
26. Song CG, Hu Z, Wu J, Luo JM, Shen ZZ, Huang W, Shao ZM (2006) The prevalence of BRCA1 and BRCA2
mutations in eastern Chinese women with breast cancer. J Cancer Res Clin Oncol 132 (10):617-626.
doi:10.1007/s00432-006-0105-9
27. Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC,
Thomas DB, Ostrander EA (2004) BRCA1 and BRCA2 mutations in women from Shanghai China. Cancer
Epidemiol Biomarkers Prev 13 (2):181-189
28. Qiao Y, Chen P, Shi H, Zhao G, Wu D (2002) [BRCA2 gene mutation detection in hereditary ovarian cancer
tissues]. Zhonghua Fu Chan Ke Za Zhi 37 (6):349-351