Breast Cancer Cases (n=156) | Controls (n=112) Abs(%) |
Totally (n=268) Abs (%) |
||||||||
Abs | T1 Abs (%) |
T2 Abs (%) |
T3 Abs (%) |
T4 Abs (%) |
N1 Abs (%) |
N2 Abs (%) |
N3 Abs (%) |
|||
Age (years) at operation (patients)/sample collection (controls),Mean±SD | 51.2±9.5* | 57.8±9.1 | ||||||||
Asian | 68 | 10 (15.1) |
43 (63.6) |
14 (21.2) |
1 (1.5) |
9 (13.2) |
6 (9.0) |
- | 72 (64.3) |
144 (53.8) |
Caucasian | 88 | 5 <(6.0) |
53 (60.0) |
25 (28) |
5 (6.0) |
5 (6.0) |
9 (10.0) |
5 (6.0) |
40 (35.7) |
124 (46.2) |
T – primary tumor: T1 - ≤2cm, T2 – >2 to 5cm, T3 - >5cm, T4 – tumor of any size with direct extension to chest wall or skin, N – regional lymph nodes, M – distant metastasis *- p<0.05 vs controls |
Exon | Sequence Variant | Amino Acid Variant | Frequency in the Breast Cancer Group (n=156), abs (%) | Frequency in the control group (n=112), abs (%) | BIC Entry | ||
Total | Caucasian/Asian | Total | Caucasian/Asian | ||||
Missense Mutations | |||||||
2 | c.95(G>T) † (214G>T) ‡ | p.Gly32Val (G32V) | 84(54.1)* | 51(60.7)/ 33(39.3) # | 49(43.7) | 17(36.7)/ 32(65.3) # | Yes |
3 | c.254(A>G) (373A>G) | p.Asn85Ser (N85S) | 83 (53.0)* | 48(57.8)/ 35(42.2) # | 42(37.5) | 15(35.7)/ 27(64.3) # | Yes |
11 | c.1067A>G (1186A>G) | p.Gln356Arg (Q356R) | 11 (7.2) | 6(54.5)/ 5(45.4) | 10 (8.9) | 6(60.0)/ 4(40.0) | Yes |
11 | c.2612(C>T) (2731C>T) | p.Pro871Leu (P871L) | 87(55.8) | 53(60.9)/ 34(39.1) # | 54(48.2) | 20(37.0)/ 34(63.0) # | Yes |
11 | c.3113(A>G) (3232A>G) | p.Glu1038Gly (E1038G) | 88(56.6) | 55(62.5)/ 33(37.5) # | 53(47.3) | 18(34.0)/ 35(66.0) # | Yes |
11 | c.3348(A>G) (3667A>G) | p.Lys1183Arg (K1183R) | 92(59.0)* | 58(63.0)/ 34(37.0) # | 51(45.5) | 17(33.3)/ 34(66.7) # | Yes |
15 | c.4744C>G (4863C>G) | p.Ser1542Cys (S1542C) | 24(15.5) | 14(58.3)/ 10(41.7) | 19 (17.0) | 10(52.6)/ 9(47.4) | Yes |
20 | c.5397A>G (5516A>G) | p.Ala1627Gly (A1627G) | 21(13.6) | 9(42.8)/ 12(57.1) # | 20 (17.8) | 10(50.0)/ 10(50.0) | Yes |
20 | c.5585T>G (5704T>G) | p.Thr1684Gly (T1862G) | 23(14.8) | 12(52.2)/ 11(47.8) | 17 (15.2) | 9(52.9)/ 8(47.1) | Yes |
Polymorphisms | |||||||
11 | c.2082(C>T) (2201C>T) | Synonymous Ser694Ser (S694S) | 45(54.2) | 28(62.2)/ 17(37.8) # | 48(42.8) | 17(35.4)/ 31(64.6) # | Yes |
11 | c.2311(T>C) (2430T>C) | Synonymous Leu771Leu (L771L) | 45(54.2) | 28(62.2)/ 17(37.8) # | 48(42.8) | 17(35.4)/ 31(64.6) # | Yes |
13 | c.4427(T>C) (4546T>C) | Synonymous Ser1436Ser (S1436S) | 76(49.0) | 35(46.0)/ 41(53.9) # | 54(48.2) | 25(46.3)/ 29(53.7) | Yes |
† Numbering according to GenBank Accession no. NM_007294.1, the A of the ATG translation initiation codon is +1,according to approved guidelines (http://www.hgvs.org/mutnomen/) ‡The nomenclature as used in the BIC database is given in parentheses. Mutation nomenclature is according to RefSeq accession number U14680 (BRCA1) with numbering starting at the A of the first ATG at the position 120 * - p<0.05, ** - p<0.001 between cases and controls #- p<0.05, ##-- p<0.001 between Caucasians and Asians in group |
Exon | Sequence Variant | Amino Acid Variant | Frequency in the Breast Cancer Group (n=156), abs (%) | Frequency in the control group (n=112), abs (%) | BIC Entry | ||
Total | Caucasian/Asian | Total | Caucasian/Asian | ||||
Missense Mutations | |||||||
10 | c.865(A>C)† (1093A>C) ‡ | p.Asn289His (N289H) | 24(15.2)* | 13(54.2)/ 11(45.8) | 11(10.1) | 7(63.6)/ 4(36.4) | Yes |
10 | c.2127(T>C) (2235T>C) | p.Asn709Arg (N709R) | 65(41.6)* | 36(55.4)/ 29(44.6)#- | 52(46.4) | 29(55.8)/ 23(44.2) | Yes |
11 | c.2350(A>G) (2578A>G) | p.Met784Val (M784V) | 26(17.0) | 16(61.5)/ 10(38.5)#- | 24(21.4) | 13(54.2)/ 11(45.8) | Yes |
11 | c.2410(G>A) (2638G>A) | p.Asp804Asn (D804N) | 54(34.7) | 33(61.1)/ 21(38.9)# | 38 (33.9) | 16(42.1)/ 22(57.9) | Yes |
11 | c.3422(T>C) (3650T>C) | p.Ile1141Thr (I1141T) | 39(24.9) | 15(38.5)/ 14(35.9) | 26 (23.2) | 16(61.5)/ 10(38.5)# | Yes |
11 | c.3572(C>T) (3800C>T) | p.Ser1191Phe (S1191F) | 34(21.8) | 15(44.1)/ 19(55.9)# | 23 (20.5) | 10(43.5)/ 13(56.5) | Yes |
27 | c.10234(A>G) (10462A>G) | p.Ile3412Val (I3412V) | 48 (30.8)* | 29(60.4)/ 19(39.6) # | 21 (18.7) | 10(47.6)/ 11(52.4) | Yes |
Polymorphisms | |||||||
10 | c.1365(A>G) (1593A>G) | Synonymous Ser455Ser (S455S) | 81(52.2*) | 48(59.2)/ 33(40.7)# | 48(42.8) | 19(39.6)/ 29(60.4)# | Yes |
11 | c.2229(T>C) (2457T>C) | Synonymous His473His (H473H) | 81(52.2)* | 48(59.2)/ 33(40.7)# | 48(42.8) | 19(39.6)/ 29(60.4)# | Yes |
14 | c.7242(A>G) (7470A>G) | Synonymous Ser2414Ser (S2414S) | 61(39.0)* | 35(57.3)/ 26(42.6)# | 36(32.1) | 16(44.4)/ 20(55.5) | Yes |
† Numbering according to GenBank Accession no. NM_000059.1, the A of the ATG translation initiation codon is +1, according to approved guidelines (http://www.hgvs.org/mutnomen/). ‡The nomenclature as used in the BIC database is given in parentheses. Mutation nomenclature is according to GenBank accession number U43746 (BRCA2) with numbering starting at the A of the first ATG at the posotion 229. * - p<0.05, ** - p<0.001 between cases and controls #- p<0.05, ##-- p<0.001 between Caucasians and Asians in group |
Cases (n=156) | ||
Polymorphism Positive (n = 111) 71.2% |
Polymorphism Negative (n = 45) 28.8% |
|
1 polymorphism | 15(13.6) | |
2-3 polymorphisms | 17(15.2) | |
4-6 polymorphisms | 79(71.2) | |
Age | 50.6±8.8 | 52.7±10.7 |
Caucasian | 66(59.3) | 28(62.5) |
Asian | 45(40.7) | 17(37.5) |
Tumor histology | ||
Invasive ductal | 68(61.0) | 32(70.8) |
Invasive lobular | 34(30.5) | 13(29.2) |
Medullary | 8(6.8) | |
Mucinous | 2(1.7) | |
Tumor size | ||
T1 | 1(1.1) | 4(8.4) |
T2 | 66(59.3) | 30(66.7) |
30(27.1) | 9(20.8) | |
T4 | 38(3.4) | 2(4.2) |
Lymph node involvement | ||
Yes | 21(18.6) | 4(16.7) |
No | 90(81.4) | 20(83.3) |
T – primary tumor: T1 - ≤2cm, T2 – >2 to 5cm, T3 - >5cm, T4 – tumor of any size with direct extension to chest wall or skin, N – regional lymph nodes, M – distant metastasis |