Table 1. Selected clinical and genetic characteristics of the scleroderma patients evaluated in this study.
NA, not applicable.
| Patient no. | Scleroderma duration at diagnosis of cancer (years) | Auto- antibodies to: | Age at diagnosis of cancer | Cancer type | Cancer subtype | Cancer stage | POLR3A mutation (% mutant alleles) | POLR3A mutation (genomic position on chr. 10) | POLR3A mutation (amino acid change) | POLR3A loss of heterozygosity (LOH) |
|---|---|---|---|---|---|---|---|---|---|---|
| SCL-1 | − 0.2 | RPC1 | 51 | Breast cancer | Invasive ductal | IA | ND† | NA | NA | LOH |
| SCL-2 | − 0.1 | RPC1 | 42.3 | Lung cancer | Small cell carcinoma | I or II* | 26% | 79414962C>G | p.E1072Q | LOH |
| SCL-4 | − 0.4 | RPC1 | 44 | Ovarian cancer | Adenocarcinoma | IIIC | 4.3% | 79407320C>G | p.K1365N | No LOH |
| SCL-13 | 0.3 | RPC1 | 51.1 | Breast cancer | Invasive ductal | IIB | No mutation detected | NA | NA | LOH |
| SCL-35 | −2 | RPC1 | 50.9 | Breast cancer | Ductal carcinoma in situ | 0 | No mutation detected | NA | NA | No LOH |
| SCL-42 | 1.5 | RPC1 | 47.5 | Breast cancer | Invasive ductal | IIA | 31% | 79455393A>G | p.I104T | LOH |
| SCL-81 | − 4.2 | RPC1 | 54.6 | Colorectal cancer | Adenocarcinoma | III | No mutation detected | NA | NA | LOH |
| SCL-82 | 2.5 | RPC1 | 51.1 | Breast cancer | Ductal carcinoma in situ | 0 | No mutation detected | NA | NA | No LOH |
| SCL-5 | 9.2 | TOP1 | 74.6 | Lung cancer | Adenocarcinoma | IB | No mutation detected | NA | NA | No LOH |
| SCL-8 | 0.4 | TOP1 | 65.1 | Breast cancer | Infiltrating lobular | IIIA | No mutation detected | NA | NA | No LOH |
| SCL-11 | 13.4 | TOP1 | 55.7 | Breast cancer | Infiltrating lobular | IIIC | No mutation detected | NA | NA | No LOH |
| SCL-12 | 34 | CENPB | 68.6 | Anal cancer | Squamous cell carcinoma | I | No mutation detected | NA | NA | Uninformative‡ |
| SCL-19 | 34 | TOP1 | 74.1 | Breast cancer | Ductal carcinoma in situ | 0 | No mutation detected | NA | NA | No LOH |
| SCL-24 | 36.9 | CENPB | 64.2 | B cell lymphoma | Extranodal, mantle cell | IV | No mutation detected | NA | NA | No LOH |
| SCL-32 | −2.5 | CENPB | 43.1 | Breast cancer | Invasive ductal | I | No mutation detected | NA | NA | Uninformative‡ |
| SCL-85 | 15 | TOP1 | 52.1 | Breast cancer | Invasive ductal | IIA | No mutation detected | NA | NA | No LOH |
*
Patient records indicate only that the disease was localized.
†
No mutation detected.
‡
“Uninformative” indicates that none of the evaluated SNPs were heterozygous in the normal cells of the patient.