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

Table 2

Mutational spectrum of BRCA2 gene in Pakistani population.

No	Exon no.	Point of mutation	Mutation	Ethnicity	Reference
Type of mutation
Deletion
1	22	9140delA	frameshift and truncation	1 Muhajir	Liede et al. [22]
2	11	3913delG	frameshift and truncation	1 Sindhi	Liede et al. [22]
3	11	5950delCT	frameshift and truncation	1 Punjabi	Liede et al. [22]
4	11	6696delTC	frameshift and truncation	1 Punjabi	Liede et al. [22]
5	11	2674delG	frameshift and truncation	1 Muhajir	Liede et al. [22]
6	11	5057delTG	frameshift and truncation	1 Punjabi 1 Parsi	Liede et al. [22]; Rashid et al. [14]
7	11	3179delA	frameshift and truncation	1 Muhajir	Liede et al. [22]
8	10	1993delAA	frameshift and truncation	1 Multiracial	Rashid et al. [14]
9	11	4052delTAGA	frameshift and truncation	1 Multiracial	Rashid et al. [14]
10	25	9658delT	frameshift and truncation	1 Multiracial	Rashid et al. [14]
Insertion
11	11	5302insA	frameshift and truncation	1 Punjabi	Liede et al. [22]
12	11	6679insAA	frameshift and truncation	1 Punjabi	Liede et al. [22]
Nonsense
Protein changed
13	11	3337C→T	Gln to stop	2 Memon	Liede et al. [22]
14	10	2083C > T, Q619X	Gln to stop	1 Punjabi	Rashid et al. [14]
15	11	3218T > G, L992X	Leu to stop	1 Multiracial	Rashid et al. [14]
16	11	5962G > T, E1912X	Glu to stop	1 Multiracial	Rashid et al. [14]