Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report

Table 1

Mutational spectrum of BRCA1 gene in Pakistani population.

No	Exon no.	Point of mutation	Mutation	Ethnicity	Reference
Deletion
Type
1	2	185delAG	frameshift and truncation	1 Punjabi; 2 Pathan	Liede et al. [22]; Rashid et al. [14]
2	11	1616delAAAT	frameshift and truncation	1 Muhajir	Liede et al. [22]
3	12	4284delAG	frameshift and truncation	2 Muhajir	Liede et al. [22]
4	11	4184del4	frameshift and truncation	3 Punjabi 1 Sindhi	Liede et al. [22]
5	11	1476delG	frameshift and truncation	1 Punjabi	Liede et al. [22]
6	11	3889delAG	frameshift and truncation	2 Punjabi	Liede et al. [22]
7	11	2388delG	frameshift and truncation	2 Muhajir	Liede et al. [22]; Rashid et al. [14]
8	11	894delG	frameshift and truncation	1 Muhajir	Liede et al. [22]
9	11	1956delA	frameshift and truncation	1 Punjabi	Liede et al. [22]
10	11	1127delA	frameshift and truncation	1 Punjabi	Liede et al. [22]
11	11	2266delG	frameshift and truncation	1 Punjabi	Liede et al. [22]
12	7	550delA	frameshift and truncation	1 Multiracial	Rashid et al. [14]
13	8	589delCT	frameshift and truncation	1 Punjabi	Rashid et al. [14]
14	17	5149delCTAA	frameshift and truncation	1 Punjabi	Rashid et al. [14]
15	11	1013delTG	frameshift and truncation	1 Muhajir	Liede et al. [22]
Insertion
Type
16	11	2080insA	frameshift and truncation	3 Pathan	Liede et al. [22]
17	11	2041insA	frameshift and truncation	2 Punjabi	Liede et al. [22]
18	2	185insA	frameshift and truncation	4 Punjabi	Liede et al. [22]; Rashid et al. [14]
19	11	1770insT	frameshift and truncation	1 Balouchi	Liede et al. [22]
20	11	3812insT	frameshift and truncation	1 Multiracial	Rashid et al. [14]
21	20	5376insA	frameshift and truncation	1 Multiracial	Rashid et al. [14]
22	13	4356insA	frameshift and truncation	3 Not specified	Malik et al. [23]
Nonsense
Protein changed
23	15	4627C→A, S1503X	Stop 1503	6 Punjabi	Liede et al. [22]; Rashid et al. [14]
24	11	1590 C→T, Q491X	Gln to stop	1 Punjabi	Rashid et al. [14]
25	11	1731C→T, Q531X	Gln to stop	1 Multiracial	Rashid et al. [14]
26	12	4302C→T, Q1395X	Gln to stop	1 Punjabi	Rashid et al. [14]
27	24	5622C→T, R1835X	Arg to stop	2 Punjabi	Rashid et al. [14]
28	11	1912T→G	Gln to stop	1 Muhajir	Liede et al. [22]
Missense
Protein changed
29	13	4305	Serine changed	3 Not specified	Malik et al. [23]
30	11	3405C→T	C→T	1 Muhajir	Liede et al. [22]
31	11	2722C→G	C→G	1 Kashmiri	Liede et al. [22]
Splice site
32	Intron 14	IVS14-1G→A		2 Punjabi 1 Pathan	Liede et al. [22]
33	Intron 4	IVS4-1G→T		1 Punjabi	Rashid et al. [14]
34	Intron 20	IVS20-1G→C		1 Multiracial	Rashid et al. [14]