Table 2.
Germline pathogenic/likely pathogenic variants in patients with invasive breast cancer
| CHEK2 variant status | |
| Heterozygous | 33/35 (94%) |
| Homozygous | 2/35 (6%) |
| CHEK2 variant | |
| Frameshift | 17/35 (49%) |
| c.1100delC (p.T367Mfs)a,b | 14/35 (40%) |
| c.1263delT (p.S422fs) | 2/35 (6%) |
| c.433delC (p.R145fs)c | 1/35 (3%) |
| Missense | 9/35 (26%) |
| c.1283C > T (p.S428F)a | 3/35 (9%) |
| c.470 T > C (p.I157T) | 2/35 (6%) |
| c.349A > G (p.R117G) | 2/35 (6%) |
| c.499G > A (p.G167R) | 1/35 (3%) |
| c.707 T > C (p.L236P)d | 1/35 (3%) |
| Exon deletions | 5/35 (14%) |
| Splice site | 4/35 (11%) |
aOne patient with germline pathogenic/likely pathogenic ATM variant
bOne patient with germline pathogenic/likely pathogenic PALB2 variant
cOne patient with germline pathogenic/likely pathogenic MUTHY variant
dOne patient with germline pathogenic/likely pathogenic RAD50 variant