TABLE 2.
Summary of germline mutations identified in BRCA1, BRCA2, and TP53 genes in Pakistani breast cancer patients.
| Sr No | ID | Histology a | Sex | Age group | Chromosome | Position start hg 37 | Gene | C. DNA | Protein | Novel b mutation |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 09 | pBC (IDC) | F | ≤40 | 13 | 32,914,299 | BRCA2 | c.5807delTGTC (ex11) | 1936fs | yes |
| 2 | 38 | pBC (IDC) | F | >40 | 17 | 41,276,045 | BRCA1 | c.68_69del (ex2) | 23fs | no |
| 3 | 45 | pBC (IDC) | F | ≤40 | 17 | 41,244,237 | BRCA1 | c.3311delA (ex11) | K1104fs | yes |
| 4 | 47 | pBC (IDC) | F | ≤40 | 17 | 41,253,030 | BRCA1 | del exons 5–7 | K45fs | yes |
| 5 | 63 | pBC (IDC) | F | ≤40 | 17 | 7,578,212 | TP53 | c.637C > T (ex6) | R213X | no |
| 6 | 71 | pBC (IDC) | F | >40 | 13 | 32,954,023 | BRCA2 | c.9090delA (ex23) | T3030fs | yes (germline) |
| 7 | 73 | pBC (IDC) | F | ≤40 | 17 | 41,197,784 | BRCA1 | c.5503C > T (ex24) | R1835X | no |
| 8 | 84 | pBC (IDC + DCIS) | F | ≤40 | 17 | 41,245,795 | BRCA1 | c.1753G > T (ex11) | E585X | yes |
| 9 | 88 | pBC (IDC) | F | >40 | 13 | 32,914,134 | BRCA2 | c.5642delAATC (ex11) | 1881fs | yes |
| 10 | 93 | pBC (IDC) | F | >40 | 17 | 7,579,415 | TP53 | c.272G > A (ex4) | W91X | yes (germline) |
a
pBC: primary Breast Cancer; IDC: invasive ductal carcinoma; DCIS: Ductal Carcinoma in situ.
b
Novelty was identified by comparing with BIC, and ExAC databases.