Introduction
Patients and methods
Patients
Confirmatory germline sequencing
Definition of variant pathogenicity
Results
Patient characteristics
Characteristics | No. of patients (%) | ||
---|---|---|---|
ctDNA tested n = 106 | Germline tested n = 44 | ||
Age, years | |||
Median [range] | 64 [28–82] | 65 [38–80] | |
Sex | |||
Male | 57 (53.8) | 26 (59.1) | |
Female | 49 (46.2) | 18 (40.9) | |
Cancer type | |||
Pancreatic | 37 (34.9) | 19 (43.2) | |
Colorectal | 12 (11.3) | 7 (15.9) | |
Lung | 11 (10.4) | 5 (11.4) | |
Breast | 10 (9.4) | 3 (6.8) | |
Bile duct | 9 (8.5) | 2 (4.5) | |
Ovarian | 4 (3.8) | 3 (6.8) | |
Prostate | 3 (2.8) | 2 (4.5) | |
Esophageal | 3 (2.8) | 1 (2.3) | |
Head and neck | 3 (2.8) | 0 (0) | |
Urothelial | 2 (1.9) | 0 (0) | |
Gastric | 2 (1.9) | 2 (4.5) | |
Cervical | 2 (1.9) | 0 (0) | |
Endometrial | 1 (0.9) | 0 (0) | |
Small intestinal | 1 (0.9) | 0 (0) | |
Hepatic | 1 (0.9) | 0 (0) | |
Thyroid | 1 (0.9) | 0 (0) | |
NEC | 1 (0.9) | 0 (0) | |
Other | 3 (2.8) | 0 (0) | |
Familial history of any cancers | |||
Both in FDR/SDR | 20 (18.9) | 8 (18.2) | |
Only in FDR | 43 (40.6) | 21 (47.7) | |
Only in SDR | 17 (16.0) | 5 (11.4) |
Distribution of pathogenic variant allele fractions in ctDNA testing
Results of germline sequencing
Cancer type | Age | Sex | Familial history of cancer | Gene | Coding | Amino acid | VAF ctDNA | VAF blood |
---|---|---|---|---|---|---|---|---|
Breast | 47 | Female | Prostate (f) | BRCA2 | c.5645C > A | S1882* | 52.2 | 49.1 |
Breast | 70 | Female | – | BRCA2 | c.5576_5579delTTAA | I1859fs*3 | 53.6 (1st) 59.9 (2nd) | 50.7 |
Prostate | 57 | Male | – | BRCA2 | c.9212dupA | V3072fs*39 | 48.2 | 50.7 |
Pancreatic | 46 | Male | Breast (m), hepatic (f), head & neck (f) | BRCA2 | c.9212dupA | V3072fs*39 | 55.2 | 49.9 |
Pancreatic | 38 | Female | Gastric (f), esophageal (f) | BRCA2 | c.8504C > A | S2835* | 43.7 | 52.9 |
Ovarian | 44 | Female | Prostate (gf) | BRCA2 | c.6405_6509delCTTAA | N2135fs*3 | 60.0 | 50.4 |
Pancreatic | 67 | Male | Malignancy (f) | JAK2 | c.1849G > T | V617F | 37.7 | 46.1 |
Bile duct | 58 | Male | – | TP53 | c.713G > A | C238Y | 14.0 | 15.6 |