Table 1 Numbers and mean ages at diagnosis of cancers in the first- and second-degree male and female relatives of probands from POLE and POLD1 mutation families
From: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1
Male | Female | |||
|---|---|---|---|---|
Site of cancer | n | Mean age (SD) | n | Mean age (SD) |
POLE | (n = 172) | (n = 192) | ||
Colon/rectum | 36 | 48.5 (14.9) | 31 | 52.1 (12.5) |
Cutaneous malignant melanoma | 5 | 46.8 (29.9)a | 11 | 54.4 (18.7) |
Duodenum | 1 | 45 | 0 | –– |
Renal | 1 | 86 | 0 | –– |
Ureter | 1 | 46 | 0 | –– |
Esophagus | 1 | 85 | 1 | 77 |
Pancreas | 1 | 46 | 1 | 78 |
Brain | 1 | 69 | 2 | 68a |
Bone | 1 | UK | 0 | –– |
Lung | 2 | 61.0 (5.66) | 1 | 92 |
Liver | 0 | –– | 1 | UK |
Leukemia | 2 | 74.0 (12.7) | 0 | –– |
Astrocytoma | 3 | 50.7 (30.9) | 0 | –– |
Ewing’s sarcoma | 0 | –– | 1 | 14 |
Intra-abdominal | 0 | –– | 1 | UK |
Head and neck | 1 | 52 | 3 | 74.0 (2.65) |
Breast | 0 | –– | 4 | 64.5 (21.4) |
Endometrium | NR | NR | 3 | 53.0 (9.85) |
Ovary | NR | NR | 4 | 43.8 (6.29) |
Prostate | 5 | 74.0 (14.2)a | NA | NA |
POLD1 | (n = 38) | (n = 31) | ||
Colon/Rectum | 4 | 42.3 (7.04) | 2 | 34.5 (2.12) |
Stomach | 1 | 72 | 1 | 85 |
Renal | 0 | –– | 1 | 74 |
Urinary bladder | 0 | –– | 1 | UK |
Hodgkin lymphoma | 0 | –– | 1 | 30 |
Head and neck | 1 | 56 | 0 | –– |
Breast | 0 | –– | 3 | 58.3 (10.7) |
Endometrium | NR | NR | 3 | 55.0 (2.65) |
Ovary | NR | NR | 1 | 31 |
