TABLE 2. Patient-Level Clinicopathological Data of Breast Cancer Patients Carrying Pathogenic ATM Variants.
|
No. |
Patient ID |
HGVSc |
HGVSp |
Effect |
Ethnicity |
Age at diagnosis |
Family history for BC/OC |
Localization |
BC type |
T |
N |
G |
Stage |
ER pos. |
PR pos. |
HER2 pos. |
TN pos. |
|
1 |
BC-255 |
c.67C > T |
p.Arg23* |
Stop gained |
MK |
34 |
Yes |
Unilateral |
Ductal |
1c |
1a |
3 |
II A |
No |
No |
No |
Yes |
|
2 |
BC-1767 |
c.67C > T |
p.Arg23* |
Stop gained |
MK |
40 |
No |
Unilateral |
Ductal |
2 |
0 |
NA |
IIA |
Yes |
Yes |
Yes |
No |
|
3 |
BC-1997 |
c.67C > T |
p.Arg23* |
Stop gained |
MK |
54 |
No |
Unilateral |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
|
4 |
BC-2230 |
c.67C > T |
p.Arg23* |
Stop gained |
MK |
51 |
Yes |
Unilateral |
Lobular |
2 |
1a |
2 |
IIB |
Yes |
Yes |
No |
No |
|
5 |
BC-2416 |
c.67C > T |
p.Arg23* |
Stop gained |
MK |
48 |
Yes |
Unilateral |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
|
6 |
BC-2871 |
c.67C > T |
p.Arg23* |
Stop gained |
MK |
54 |
Yes |
Unilateral |
Ductal |
2 |
1 |
3 |
IIB |
Yes |
Yes |
NA |
No |
|
7 |
BC-577 |
c.495_496 + 16del |
p.? |
Splice donor |
AL |
33 |
No |
Bilateral |
Ductal |
4b |
0 |
3 |
IIIC |
Yes |
Yes |
Yes |
No |
|
8 |
BC-1396 |
c.495_496 + 16del |
p.? |
Splice donor |
AL |
61 |
Yes |
Unilateral |
Ductal |
2 |
1 |
2 |
IIB |
Yes |
Yes |
No |
No |
|
9 |
BC-656 |
c.1066-1G > A |
p.? |
Splice acceptor |
MK |
28 |
No |
Unilateral |
Lobular |
2 |
3 |
3 |
IIIC |
Yes |
Yes |
No |
No |
|
10 |
BC-1643 |
c.1066-1G > A |
p.? |
Splice acceptor |
MK |
32 |
Yes |
Unilateral |
Ductal |
1c |
2a |
3 |
IIIA |
Yes |
Yes |
No |
No |
|
11 |
BC-2415 |
c.1066-1G > A |
p.? |
Splice acceptor |
MK |
45 |
Yes |
Unilateral |
Ductal |
2 |
2 |
3 |
IIIA |
Yes |
No |
Yes |
No |
|
12 |
BC-1492 |
c.1564_1565del |
p.Glu522Ilefs*43 |
Frameshift |
MK |
61 |
Yes |
Unilateral |
Ductal |
2 |
1 |
2 |
IIB |
No |
No |
Yes |
No |
|
13 |
BC-91 |
c.3576G > T |
p.Lys1192= |
Splice, synonymous |
MK |
37 |
Yes |
Unilateral |
Ductal |
2 |
0 |
NA |
NA |
Yes |
Yes |
No |
No |
|
14 |
BC-2315 |
c.3576G > T |
p.Lys1192= |
Splice, synonymous |
MK |
37 |
Yes |
Unilateral |
Ductal |
1c |
x |
2 |
IA |
No |
No |
No |
Yes |
|
15 |
BC-2784 |
c.3576G > T |
p.Lys1192= |
Splice, synonymous |
MK |
34 |
Yes |
Unilateral |
Ductal |
2 |
3 |
3 |
IIIC |
Yes |
Yes |
No |
No |
|
16 |
BC-105 |
c.3603del |
p.Phe1201Leufs*6 |
Frameshift |
MK |
40 |
Yes |
Unilateral |
Ductal |
2 |
1 |
NA |
NA |
Yes |
Yes |
No |
No |
|
17 |
BC-160 |
c.3866delA |
p.Lys1289Argfs*4 |
Frameshift |
MK |
39 |
Yes |
Unilateral |
Lobular |
2 |
1 |
2 |
IIB |
Yes |
No |
Yes |
No |
|
18 |
BC-1048 |
c.5005G > A |
p.Glu1669Lys |
Missense, splice |
MK |
37 |
No |
Unilateral |
Ductal |
2 |
2a |
3 |
IIIA |
Yes |
Yes |
Yes |
No |
|
19 |
BC-1477 |
c.6115G > A |
p.Glu2039Lys |
Missense, splice |
MK |
41 |
Yes |
Unilateral |
Ductal |
1c |
1mi |
2 |
IB |
Yes |
Yes |
No |
No |
|
20 |
BC-1516 |
c.6889dup |
p.Gln2297Profs*76 |
Frameshift |
MK |
52 |
Yes |
Unilateral |
Ductal |
mi |
0 |
3 |
IA |
Yes |
Yes |
Yes |
No |
|
21 |
BC-865 |
c.8283_8284del |
p.Gln2762Alafs*6 |
Frameshift |
MK |
34 |
Yes |
Unilateral |
Ductal |
2 |
1a |
3 |
IIB |
Yes |
Yes |
Yes |
No |
|
22 |
BC-2490 |
c.8283_8284del |
p.Gln2762Alafs*6 |
Frameshift |
MK |
38 |
No |
Unilateral |
Ductal |
NA |
NA |
NA |
NA |
Yes |
Yes |
Yes |
No |
|
23 |
BC-1305 |
c.9139C > T |
p.Arg3047* |
Stop gained |
MK |
34 |
No |
Unilateral |
Ductal |
2 |
2 |
2 |
IIIA |
Yes |
Yes |
No |
No |
MK, Macedonian; AL, Albanian; PV, pathogenic variants; BC, breast cancer; OC, ovarian cancer; ER, estrogen receptor; PR, progesterone receptor; HER2/neu, human epidermal growth factor receptor 2; TN, triple negative; pos., positive; NA, not applicable; ATM, ataxia-telangiectasia mutated.