Table 3.
Analyses of the entire CHEK2 coding sequence (separately or as a part of panel NGS) or analyses of specific variant(s) in renal cell carcinoma (RCC) patients.
| Reference | Population | P: Patients C: Controls |
Analysis * | Odds Ratio (95% Confidence Interval); p—Remark (Statistically Insignificant in Italics) |
|---|---|---|---|---|
| Zlowocka-Perlowska 2019 [214] |
PL | P: 835 invasive RCC C: 8304 non-cancer |
c.1100delC; c.444+1A>G; 5395del; c.I157T | 2.5 (1.5–4.1); 0.0003—for truncations 2.0 (1.6–2.6); <0.001—for p.I157T |
| Carlo 2018 [215] |
US | P: 254 RCC (stage III-IV) C: ExAC |
CHEK2 | 3.0 (1.3–5.8); 0.003 |
| Ge 2016 [216] |
GWAS | P: 1322 C: 3428 |
p.I157T | 0.63 (0.44–0.89); 0.01 |
| Naslund-Koch 2016 [156] |
DK | 138/86,975 individuals developed RCC | c.1100delC | 3.61 (1.33–9.79); 0.01 |
| Weischer 2007 [162] |
DK | P: 33 RCC (prospective) C: 9166 PMC (prospect.) |
c.1100delC | 9.8 (2.3–41.2) RCC prospective study |
| Cybulski 2004 [20] |
PL | P: 264 RCC C: 4000 PMC |
c.1100delC; c.444+1G>A; p.I157T |
1.0; p = 0.8—truncations 2.1; p = 0.0006—for p.I157T |
* CHEK2 = an analysis of the entire coding sequence (dominantly without CNV); otherwise specified if certain CHEK2 variants were genotyped. DK—Denmark; GWAS—genome-wide association study; PL—Poland; US—the USA. The analyses that failed to demonstrate an association are shown in italics.