Background
Materials and methods
Subjects
Breast cancer | Ovarian cancer | |||
---|---|---|---|---|
Poland (n = 226) | Ukraine (n = 112) | Poland (n = 78) | Ukraine (n = 11) | |
Age at diagnosis (years) | 49 (22–72) | 50 (28–79) | 53 (25–80) | 51 (31–65) |
Relatives with breast cancer | ||||
0 | 148 (65%) | 24 (21%) | 61 (%) | 5 (45%) |
1 | 51 (23%) | 56 (50%) | 14 (%) | 6 (55%) |
2+ | 27 (12%) | 32 (29%) | 3 (%) | 0 (0%) |
Relatives with ovarian cancer | ||||
0 | 210 (93%) | 98 (86%) | 65 (%) | 6 (55%) |
1 | 13 (6%) | 12 (11%) | 10 (%) | 3 (27%) |
2+ | 3 (1%) | 2 (2%) | 3 (%) | 2 (18%) |
Invasive cancers | ||||
GI | 14 (11%) | NA | 8 (18%) | NA |
GII | 65 (52%) | NA | 18 (41%) | NA |
GIII | 46 (37%) | NA | 18 (41%) | NA |
In situ cancers | ||||
GI | 1 (20%) | NA | – | – |
GII | 2 (40%) | NA | – | – |
GIII | 2 (40%) | NA | – | – |
Mutation screening
In-silico analysis
Results
HGVS_ca
| HGVS_pa
| dbSNPb
| MAF in ExACc
| PolyPhen-2d
| CADDe
| # Carriers | ||
---|---|---|---|---|---|---|---|---|
BCf
| OCg
| |||||||
Frameshifting deletions | c.172_175del | p.Q60Rfs*7 | – | – | – | – | 0 | 1 |
c.509_510del | p.R170Ifs*14 | – | 0.00010 | – | – | 3 | 0 | |
Missense substitutions | c.13C > T | p.P5S | rs377085677 | 0.00005 | B | 13.2 | 3 | 0 |
c.187C > G | p.L63V | – | 0.00001 | B | 0.014 | 1 | 0 | |
c.1010T > C | p.L337S | rs45494092 | 0.01920 | B | 8.918 | 6 | 3 | |
c.1033T > G | p.L345V | – | – | B | 3.477 | 1 | 0 | |
c.1544A > G | p.K515R | – | 0.00006 | B | 16.16 | 1 | 0 | |
c.1676A > G | p.Q559R | rs152451 | 0.09550 | B | 0.029 | 75 | 17 | |
c.2014G > C | p.E672Q | rs45532440 | 0.02830 | B | 11.43 | 24 | 5 | |
c.2135C > T | p.A712V | rs141458731 | 0.00040 | B | 12.2 | 0 | 1 | |
c.2590C > T | p.P864S | rs45568339 | 0.00410 | B | 12.03 | 1 | 1 | |
c.2773G > C | p.V925L | rs180177125 | 0.00005 | B | 14.83 | 1 | 0 | |
c.2794G > A | p.V932M | rs45624036 | 0.00810 | D | 18.31 | 4 | 2 | |
c.2816T > G | p.L939Wh
| rs45478192 | 0.00160 | D | 20.9 | 1 | 1 | |
c.2993G > A | p.G998E | rs45551636 | 0.02140 | D | 22.7 | 15 | 3 | |
c.3508C > T | p.H1170Y | rs200283306 | 0.00010 | D | 16.95 | 2 | 0 | |
Synonymous substitutions | c.615A > G | p.E205E | – | 0.00003 | – | – | 1 | 0 |
c.1194G > A | p.V398V | rs61755173 | 0.00120 | – | – | 1 | 1 | |
c.1281T > C | p.A427A | rs138697796 | 0.00000 | – | – | 1 | 0 | |
c.1572A > G | p.S524S | rs45472400 | 0.00410 | – | – | 1 | 0 | |
c.1968A > G | p.P656P | – | – | – | – | 1 | 0 | |
c.3252G > A | p.S1084S | rs141570833 | 0.00004 | – | – | 1 | 0 | |
c.3300T > G | p.T1100T | rs45516100 | 0.02830 | – | – | 23 | 5 |