(A) | |
---|---|
CTC type | Number of detections |
CTC-CK+ | 5 CTCs/10Â mL |
CTC-CK− | 14 CTCs/10 mL |
CTC-cluster | 8 clusters/10Â mL |
(B) | ||||||||
---|---|---|---|---|---|---|---|---|
Chromosome | Position | Reference | Alteration | Gene | Type of variant, protein change (if any) | Variant classification | CK status | Allele frequency (%) |
3 | 138699065 | A | T | PIK3CB | Missense variant, p.L50M, p.L538M | VUS | CK+ | 5.2 |
3 | 138699162 | T | G | PIK3CB | Intronic variant | VUS | CK− | 21.1 |
5 | 112840058 | ATT | A | APC | Frameshift variant, p.L1471fs, p.L1489fs | LP | CK+ | 10.5 |
9 | 21974504 | G | T | CDKN2A | Intronic variant | VUS | CK− | 47.3 |
10 | 87925549 | ATACAATC | A | PTEN | Frameshift variant, p.Y68fs, p.Y241fs | VUS | CK− | 18.4 |
10 | 87933078 | G | T | PTEN | Missense variant, p.D107Y, p.D280Y | LP | CK− | 5.3 |
13 | 32362653 | T | A | BRCA2 | Missense variant, p.C2646S | VUS | CK+ | 31.6 |
13 | 48381316 | T | A | RB1 | Stop-gain variant, p.L523X | LP | CK− | 52.6 |
17 | 7673794 | C | T | TP53 | Missense variant, p.A144T, p.A117T, p.A237T, p.A276T | LP | CK+ | 2.6 |
17 | 7673799 | A | G | TP53 | Missense variant, p.V142A, p.V115A, p.V235A, p.V274A | LP | CK− | 15.7 |
17 | 7675161 | G | C | TP53 | Missense variant, p.P19A, p.P112A, p.P151A | LP | CK− | 18.4 |
17 | 7676397 | AG | A | TP53 | Frameshift variant, p.P27fs | LP | CK− | 13.2 |
17 | 7687968 | C | A | TP53 | Intronic variant | VUS | CK− | 28.9 |
17 | 39531218 | T | TG | CDK12 | Frameshift variant, p.W1450fs, p.W1459fs | LP | CK+ | 7.9 |