Table 2.
Cancer phenotype of individuals with DPVs by gene combination
| DPVs | Total N/F/M |
N with Cancer F (% of Females)/M (% of Males) |
N of ≥2 Primary Cancer F (%)/M (%) |
Median (IQR) Age of 1st Cancer | N of Female BC (%)a | Median (IQR) Age of Female BC | N of all Cancer Excluding Female BCb (%) |
|---|---|---|---|---|---|---|---|
| ATM+BRCA2 | 25/19/6 | 14 (56.0) 4 (16.0) |
4 (16.0) 1 (4.0) |
49.5 (19.5) | 11 (57.9) | 44 (14) |
2 Male BC (33.3 of M) 1 PC (16.7 of M) 3 OV (15.8 of F) 1 CRC (4.0) 1 Mel (4.0) 1 TC (4.0) |
| ATM+CHEK2 | 25/23/2 | 22 (88.0) 1 (4.0) |
6 (24.0) 0 (0.0) |
43 (10.5) | 20 (87.0) | 42.5 (9.5) | 1 CC (4.3) 1 OV (4.3 of F) 1 VulC (4.3 of F) 1 KidC (4.0) |
| BRCA1+CHEK2 | 19/17/2 | 10 (52.6) 2 (10.5) |
4 (21.1) 0 (0.0) |
44 (10.5) | 9 (52.9) | 45 (9) |
1 Male BC (50.0 of M) 1 PC (50.0 of M) 2 OV (11.8 of F) 2 EC (11.8 of F) 1 LC (5.3) 1 Mel (5.3) |
| CHEK2+CHEK2 | 18/18/0 | 17 (94.4) 0 (0.0) |
11 (61.1) 0 (0.0) |
40 (15) | 17 (94.4) | 45.5 (11) | 3 TC (16.7) 2 BlC (11.1) 2 CRC (11.1) 2 LK (11.1) 1 Mel (5.6) 1 OV (5.6 of F) 1 SarC (5.6) 1 SIC (5.6) 1 EC (5.6 of F) |
| CHEK2+PALB2 | 18/18/0 | 17 (94.4) 0 (0.0) |
5 (27.8) 0 (0.0) |
47 (18) | 17 (94.4) | 47 (18) | 1 OV (5.6 of F) 1 TC (5.6) 1 SIC (5.6) 1 LK (5.6) |
| BRCA2+CHEK2 | 16/15/1 | 11 (68.8) 0 (0.0) |
2 (12.5) 0 (0.0) |
45 (13) | 10 (66.7) | 43.5 (8.75) | 1 OV (6.7 of F) 1 LP (6.3) |
| ATM+PALB2 | 14/12/2 | 11 (78.6) 1 (7.1) |
4 (28.6) 0 (0.0) |
51.5 (11) | 9 (75.0) | 49 (10) | 3 OV (25.0 of F) 1 EC (8.3 of F) 1 PaC (7.1) |
| ATM+BRCA1 | 11/10/1 | 9 (81.8) 1 (9.1) |
3 (27.3) 1 (9.1) |
44 (13) | 4 (40.0) | 39.5 (7.25) |
1 PC (100.0 of M) 4 OV (40.0 of F) 2 TC (18.2) 1 EC (10.0 of F) 1 GC (9.1) 1 KidC (9.1) |
| BRCA1+BRCA2 | 10/9/1 | 7 (70.0) 1 (10.0) |
1 (10.0) 0 (0.0) |
39.5 (18.25) | 5 (55.6) | 33 (11) | 2 OV (22.2 of F) 1 CRC (10.0) |
Counts and percentages of males are italicized. BC, breast cancer; BlC, bladder cancer; CC, cervical cancer; CRC, colorectal cancer; DPVs, double pathogenic or likely pathogenic variants in 1 individual (plural noun); EC, endometrial cancer; GC, gastric cancer; KidC, kidney cancer; LC, lung cancer; LK, leukemia; LP, Lymphoma; Mel, melanoma; OV, ovarian cancer; PaC, pancreatic cancer; PC, prostate cancer; SarC, sarcoma; SIC, small intestine cancer; TC, thyroid cancer; VulC, vulvar cancer.
a
The percentage represents those among females.
b
The percentage for OV, EC, CC, and VulC represents those among females. The percentage for PC and male BC represents those among males.