Table 2.
Genetic variants in GRBC and FBRCAX enriched in cancer patients from TCGA and UKB.
| Gene | Nucleotide change | Protein change | rsid (v147) | GRBC carriers | GRBC families | FBRCAX carriers | Allele frequency comparisons in cancer patients vs. cancer-free individuals | Cancer patients alt allele/total alleles | Cancer-free individuals alt allele/total alleles | FET P-value | OR (95% CI) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SETBP1 | c.4129G > C | p.V1377L | rs77518617 | 2 | 1 | 1 | NFE-TCGA vs. NFE-ExAC-nonTCGA | 169/12,388 | 593/54,328 | 0.0114 | 1.25 (1.05-1.49) |
| EUR-UKB cancer patient vs. EUR-UKB cancer-free individuals | 1,792/107,410 | 8,652/513,585 | 0.7247 | 0.99 | |||||||
| EUR-UKB female BC patient vs. EUR-UKB female cancer-free individuals | 374/19,799 | 4,517/270,628 | 0.0239 | 1.13 | |||||||
| C7orf34 | c.248C > T | p.S83F | rs143475597 | 3 | 2 | 1 | NFE-TCGA vs. NFE-ExAC-nonTCGA | 44/12,392 | 132/54,344 | 0.0325 | 1.46 (1.02-2.07) |
| EUR-UKB cancer patient vs. EUR-UKB cancer-free individuals | 389/108,789 | 1,633/520,670 | 0.0216 | 1.14(1.02-1.27) | |||||||
| EUR-UKB female BC patient vs. EUR-UKB female cancer-free individuals | 63/20,110 | 850/274,273 | 0.8955 | 1.01(0.77-1.31) |
BC, breast cancer; NFE, non-Finnish European; TCGA, The Cancer Genome Atlas; UKB, UK Biobank.