Table 1.
Participant characteristics.
| Characteristic | Range/Groups | N (%)1 | Clinical Categories1 | p-value7 | ||
|---|---|---|---|---|---|---|
|
|
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| Germline | PZM | ACE | ||||
|
| ||||||
| Sex | Male | 15 (11) | 10 | 0 | 4 | 0.61 |
| Female | 119 (89) | 79 | 7 | 22 | ||
|
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| Age at entry | 0–50 | 89 (70) | 68 | 6 | 10 | 0.001 |
| 51–71+ | 45 (30) | 21 | 1 | 16 | ||
|
| ||||||
| Race | White | 76 (57) | 47 | 5 | 20 | |
| Hispanic | 35 (26) | 28 | 2 | 3 | ||
| Asian American | 13 (10) | 9 | 0 | 2 | ||
| American Indian | 4 (3) | 1 | 0 | 1 | 0.559 | |
| African American | 1 (0.8) | 1 | 0 | 0 | ||
| Pacific Islander | 1 (0.8) | 1 | 0 | 0 | ||
| Unknown | 4 (3) | 2 | 0 | 0 | ||
|
| ||||||
| Cancer status | No | 15 (11) | 7 | 1 | 3 | 0.502 |
| Yes | 119 (89) | 82 | 6 | 23 | ||
|
| ||||||
| Age at cancer | 0–50 | 92 (77) | 71 | 6 | 11 | <0.001 |
| diagnosis 2 | 51–71+ | 27 (23) | 11 | 0 | 12 | |
|
| ||||||
| Cancer type 3 | Breast 4 | 100 | 63 | 5 | 26 | |
| Sarcoma | 28 | 28 | 0 | 0 | ||
| Adrenocortical carcinoma | 3 | 3 | 0 | 0 | ||
| Brain | 3 | 3 | 0 | 0 | ||
| Lung | 10 | 9 | 1 | 0 | 0.007 | |
| Colorectal | 9 | 5 | 1 | 1 | ||
| Thyroid | 8 | 4 | 1 | 3 | ||
| Leukemia | 7 | 3 | 0 | 4 | ||
| Other 5 | 31 | 18 | 2 | 9 | ||
|
| ||||||
| TP53 Testing | Meets | 71 (53) | 74 | 1 | 0 | <0.001 |
| Criteria 6 | Does Not Meet | 63 (47) | 15 | 6 | 26 | |
Total includes 12 indeterminate cases; these are not included in the statistical analyses of the clinical categories (n=122).
Age at first cancer diagnosis if multiple primaries
Percentage not provided due to some participants developing multiple primary cancers.
Including invasive breast cancer (n=90) and ductal carcinoma in situ (n=10).
Other cancers include: ovarian (n=5), melanoma (n=4), uterine (n=4), renal (n=4), gastric (n=3), pancreatic (n=2), aplastic anemia (n=1), bladder (n=1), cervical (n=1), non-Hodgkin’s lymphoma (n=1), parathyroid (n=1), phyllodes (n=1), prostate (n=1), tongue (n=1), and unknown (n=1).
TP53 Testing Criteria found in Supplemental table 3
χ2 test of independence or Fisher’s exact test on the three clinical categories.
PZM = post-zygotic mosaic; ACE = aberrant clonal expansion