Table 2 Frequency of rare variants in genes coding for proteins involved in DNA-Repair
Dyskeratosis/Anemia | Pulmonary Fibrosis | |
|---|---|---|
ATM/ATR | 8/23 (35%) | 3/18 (17%) |
BRCA1, BRCA2, PALB2 | 6/23 (26%) | 3/18 (17%) |
FANC-A, −D2, −F, −L, −M, −U | 5/23 (22%) | 4/18 (22%) |
RECQL4 | 4/23 (17%) | 2/18 (11%) |
SLX4 | 5/23 (22%) | 1/18 (6%) |
WRN, BLM, NBN, RAD51, RAD51C | 2/23 (9%) | 3/18 (17%) |