Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

Table 2 Deleterious mutations including frame-shift, nonsense and splice site deleterious mutations identified in Malaysian breast cancer patients

No.		Exon	Nucleotide change	AA change	Reported	Family (No.)	Ethnicity
1	BRCA1	2	180 delA	STOP 22	Novel	1	Indian
2		2	185 delAG	STOP 39	Ashkenazi Jews, others	1	Indian
3		2	185 insA	STOP 40	Caucasian, European	1	Chinese
4		8	589 delCT	STOP 157	Caucasian, Caribbean	1	Chinese
5		11	1100 delAT	STOP 328	Caucasian, Chinese [10, 16]	1	Chinese
6		11	1173 G>T	E352X	Caucasian	1	Indian
7		11	1323 G>T	E402X	Novel	1	Malay
8		11	3889 delAG	STOP1265	Various	1	Chinese
9		13	4377 C>T	Q1420X	Caucasian, African-American	1	Chinese
10		20	5370 C>T	R1751X	Various	1	Indian
11			IVS 3+1 G>T		Novel	1	Chinese
12			IVS 3+2 delT		Novel	1	Chinese
13			IVS 4-1G>C		Novel	1	Indian
14			IVS 5-12 A>G		Various	1	Chinese
1	BRCA2	3	490 delCT	STOP 99	Novel	2	Malay
2		10	1184 insA	STOP 326	Caucasian	1	Chinese
3		10	2001 del4	STOP 612	Caucasian	1	Chinese
4		11	2699 del6	STOP 824	Novel	1	Malay
5		11	2864 delCT	STOP 879	Novel	1	Chinese
6		11	4265 delCT	STOP 1350	Filipino	1	Malay
7		11	6195 insA	STOP 2002	Novel	1	Malay
8		11	6553 delGT	STOP 2109	Novel	1	Chinese
9		11	6901 delA	STOP 2228	Novel	1	Chinese
10		11	6943 G>T	E2239X	Novel	1	Chinese
11		22	9097 C>T	Q2957X	Novel	1	Indian
12		23	9326 insA	STOP 3042	Various	1	Chinese
13			IVS 17+1 G>A		Caucasian	1	Chinese

ISSN: 1465-542X