Table 5.
Genes | Mutation [%(proportion)] | LOH [%(proportion)] | Methylation [%(proportion)] |
---|---|---|---|
BRCA1 | 4.5% (8/178) (198); 2.9% (7/240) (200); 4.2% (48/1114) (201) | 0.15% (1/655) (68); 0.2% (2/1114) (201) | 3.8% (6/158) (202) |
BRCA2 | 3.9% (7/178) (198); 3.9% (9/240) (200); 5.2 (60/1114) (201) | 0.3% (2/655) (68); 0.36% (4/1114) (201) | — |
RAD50 | 1.1% (2/178) (198); 11.11% (2/18) (203); 0.8% (2/240) (200); 1.7% (19/1114) (201) |
0.6% (7/1114) (201) | — |
RAD51 | 0.56% (1/178) (198); 0.4% (1/240) (200); 0.3% (4/1114) (201) | 1.2% (14/1114) (201) | — |
RAD51B | 5.56% (1/18) (203); 0.8% (2/240) (200); 0.8% (9/1114) (201) | 0.2% (2/1114) (201) | — |
RAD51C | 0.4% (1/240) (200); 1% (11/1114) (201) | 0.09% (1/114) (201) | — |
RAD51D | 0.4% (1/240) (200); 0.6% (7/1114) (201) | 0.4% (5/1114) (201) | — |
PALB2 | 2.25% (4/178) (198); 1.7% (4/240) (200); 2.3% (26/1114) (201) |
0.09% (1/1114) (201) | — |
FANCA | 2.25% (4/178) (198); 11.11% (2/18) (203); 2.5% (6/240) (200); 1.5% (17/1114) (201) |
1.1% (12/1114) (201) | — |
FANCD2 | 1.2% (14/1114) (201) | 0.3% (3/1114) (201) | — |
FANCF | 0.9% (9/1114) (201) | 0.15% (1/655) (68); 0.2% (2/1114) (201) | 14% (22/126) (202) |
FANCI | 1.8% (19/1114) (201) | — | — |
FANCM | 5.6% (64/1114) (201) | 0.5% (6/1114) (201) | — |
NBN/NBS1 | 3.75% (17/453) (204); 1.7% (4/240) (200); 1.4% (16/1114) (201) | — | — |
BARD1 | 1.1% (2/178) (198); 3.9% (9/240) (200); 1.9% (22/1114) (201) | 0.36% (4/1114) (201) | — |
ATM | 4.5% (8/178) (198); 5.56% (1/18) (203); 7.9% (19/240) (200); 7.6% (87/1114) (201); 11.9% (12/101) (205) |
0.61% (4/655) (68) | — |
ATR | 5.6% (10/178) (198); 5.56% (1/18) (203); 3.3% (8/240) (200); 4.5% (52/1114) (201) |
0.2% (2/1114) (201) | — |
MRE11A | 1.7% (4/240) (200); 1.6% (18/1114) (201) | 0.15% (1/655) (68); 0.27% (3/1114) (201) | — |
BRIP1 | 4.6% (11/240) (200); 2.5% (28/1114) (201) | 0.5% (3/655) (68) | — |
XRCC1 | 1% (11/1114) (201) | — | — |
CHEK2 | 1.7% (3/178) (198); 1.3% (3/240) (200); 1.9% (22/1114) (201); | 0.09 (1/1114) (201) | — |
EMSY | 2.8% (32/1114) (201) | 0.2% (2/1114) (201) | — |
TP53 | 66.7% (4/6) (206); 20% (46/230) (197); 39.4% (20/1078) (205); 27.8% (5/18) (203); 59.2% (150/240) (200); 67.7% (775/1114) (201) |
0.9% (10/1114) (201) | — |
STK11 | 7.4% (17/230) (197); 1.8% (20/1078) (205); 27.8% (5/18) (203); 23.3% (56/240) (200); 9.7% (111/1114) (201) |
65% (80/124) and 11% (7/62) (207); 0.4% (5/1114) (201) | — |
PTEN | 1.8% (20/1078) (205); 3.3% (8/240) (200); 5.9% (67/1114) (201) | 3.1% (36/1114) (201) | — |
CDH1 | 1.3% (3/240) (200); 1.8% (20/1114) (201) | 0.09% (1/1114) (201) | 20% (4/20) (166); 48% (11/23) and 76% (32/42) (208) |
CDK12 | 11.11% (2/18) (203); 1.3% (3/240) (200); 3.2% (37/1114) (201) | 0.09% (1/1114) (201) | — |
BLM | 2.9% (7/240) (200); 1.8% (20/1114) (201) | — | — |
TP53BP1 | 2.9% (7/240) (200); 2.6% (30/1114) (201) | 1.4% (16/1114) (201) | — |
ERCC1 | 0.2% (2/1114) (201) | — | — |
RBBP8 | 1.1% (12/1114) (201) | — | — |
MAD2L2/REV7 | 0.3% (3/1114) (201) | 0.27% (3/1114) (201) | — |
XRCC5/Ku80 | 1.6% (18/1114) (201) | 0.36% (4/1114) (201) | — |
XRCC6/Ku70 | 1.3% (15/1114) (201) | 0.09% (1/1114) (201) | — |
SLFN11 | 2.3% (26/1114) (201) | 0.3% (3/1114) (201) | 13.6% (3/22) (209) |
“—” no report found, “LOH” loss of heterozygosity