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. 2007 Jan 18;7:14. doi: 10.1186/1471-2407-7-14

Table 2.

BRCA1/2 mutations and polymorphisms in 4 Palestinian Arab women affected with breast (DNA no. 9–11) and/or ovarian cancer (DNA no. 8) identified using DHLPC and sequencing.

NO. OF DNA Exon, Gene NT Codon Base Cange Mutation Type Designation AA Cange
8 12 BRCA1 4236 1373 G to T Nonsense E1373X E to STOP
11 16 BRCA1 5075 1652 G to A Missense-UV M1652I M to I
9 1BRCA1 -233 from 5UTR g to a IVS -233 from 5UTR g/a
8 IVS6 BRCA1 IVS6 +62 t to c IVS IVS6 -62 t/c IVS
9,10,11 IVS7 BRCA1 IVS7 -65 Del a IVS7 -65 del a IVS
9 11.3 BRCA1 1868 583 A toG K to K K583K Silent
11 11.3 BRCA1 1955 612 G to A R to R R612R Silent
9,10,11 11.4 BRCA1 2196 693 G to A D to N D693N Missense -P
9,10,11 11.4 BRCA1 3001 694 C to T S to S S694S Silent
9,10,11 11.5 BRCA1 2430 771 T to C L to L L771L Silent
9,10,11 11.5 BRCA1 2731 871 C to T P to L P871L Missense-P
8,9,10,11 11.7 BRCA1 3232 1038 A to G E to G E1038G Missense-P
8,9 11.8 BRCA1 3667 1183 A to G K to R K1183R Missense-P
9,10,11 13 BRCA1 4427 1436 T to C S to S S1436S Silent
8,9,10,11 16 BRCA1 4956 1613 A to G S to G S1613G Missense-P
8,9,10,11 IVS17 BRCA1 IVS17+66 g to a IVS17 +66 g/a IVS
8,9,11 2BRCA2 202 g to a 5UTR -27 g/a
11 IVS2 BRCA2 IVS2 -7 t to a IVS2 -7 t/a IVS
11 IVS8 BRCA2 IVS8 +56 c to t IVS8 +56 c/t IVS
8,10 10.2BRCA2 1342 372 A to C H to N H372N Missense-P
8,9,10,11 11.4BRCA2 3624 1132 A to G K to K K1132K Silent
9 11.5BRCA2 4035 1269 T to C V to V V1269V Silent
8,9,10,11 14BRCA2 7470 2414 A to G S to S S2414S Silent

Missense-UV – according to BIC database [13]

Missense-P – polymorphism according to BIC database.

IVS – Intronic sequences variation

Silent – no amino acid changes