Table 2 Distribution of Pathogenic Large Rearrangements (LRs) by genea
From: Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Frequency | Deletion | Duplication | Insertion | Inversion | Triplication | Total |
|---|---|---|---|---|---|---|
APC | 31 | 2 | 0 | 0 | 0 | 33 (1.4%) |
ATM | 104 | 5 | 28 | 0 | 0 | 137 (5.8%) |
BARD1 | 45 | 9 | 0 | 0 | 0 | 54 (2.3%) |
BMPR1A | 7 | 0 | 0 | 0 | 0 | 7 (0.3%) |
BRCA1 | 479 | 162 | 0 | 0 | 0 | 641 (27.4%) |
BRCA2 | 82 | 7 | 11 | 0 | 10 | 110 (4.7%) |
BRIP1 | 44 | 4 | 0 | 0 | 0 | 48 (2.0%) |
CDH1 | 19 | 2 | 0 | 0 | 0 | 21 (0.9%) |
CDKN2A p14ARF | 2 | 0 | 0 | 0 | 0 | 2 (0.1%) |
CDKN2A p16/p14ARF | 3 | 0 | 0 | 0 | 0 | 3 (0.1%) |
CHEK2 | 256 | 3 | 0 | 0 | 0 | 259 (11.1%) |
EPCAM | 17 | 0 | 0 | 0 | 0 | 17 (0.7%) |
GREM1 | 0 | 2 | 0 | 0 | 0 | 2 (0.1%) |
MLH1 | 61 | 20 | 1 | 0 | 0 | 82 (3.5%) |
MSH2 | 192 | 9 | 0 | 8 | 0 | 209 (8.9%) |
MSH2/EPCAM | 26 | 0 | 0 | 0 | 0 | 26 (1.1%) |
MSH6 | 26 | 0 | 0 | 0 | 0 | 26 (1.1%) |
MYH | 10 | 0 | 0 | 0 | 0 | 10 (0.4%) |
NBN | 46 | 0 | 0 | 0 | 0 | 46 (2.0%) |
PALB2 | 146 | 17 | 1 | 0 | 0 | 164 (7.0%) |
PMS2 | 260 | 14 | 1 | 0 | 0 | 275 (11.7%) |
PTEN | 4 | 1 | 0 | 0 | 0 | 5 (0.2%) |
RAD51C | 99 | 6 | 0 | 0 | 1 | 106 (4.5%) |
RAD51D | 24 | 0 | 0 | 0 | 0 | 24 (1.0%) |
SMAD4 | 1 | 0 | 0 | 0 | 0 | 1 (<0.1%) |
STK11 | 16 | 1 | 0 | 0 | 0 | 17 (0.7%) |
TP53 | 17 | 0 | 0 | 0 | 0 | 17 (0.7%) |
Total | 2017 | 264 | 42 | 8 | 11 | 2342 |