3.
Discussed TP73 polymorphisms in cancer epidemiology
| Polymorphism | Comments | Ref. | ||
|---|---|---|---|---|
| G4C14 to A4T14 | ||||
| Prognosis | 708 SCCHN patients and 1229 cancer-free controls. Genotypes (GC/AT + AT/AT) were associated with significantly increased risk for SCCHN (OR = 1.33, 95% CI = 1.10–1.60). | [89] | ||
| 1054 lung cancer patients and 1139 cancer-free controls. Genotypes (GC/AT + AT/AT) were associated with significantly increased risk for lung cancer (OR = 1.32, 95% CI = 1.10–1.59). | [90] | |||
| 114 endometrial cancer patients and 442 controls. Association between the TP73 AA genotype and an increased risk of endometrial cancer (OR = 2.82, 95% CI = 1.36–5.82). | [91] | |||
| Protective role of AT variant | 84 oesophageal cancers (25 squamous and 59 adenocarcinoma) and 152 cancer-free controls. | [92] | ||
| AT/AT homozygotes were less prevalent in the cancer population (1.2%) compared to controls (9.9%) (P < 0.02), OR = 0.11 (95% CI = 0.02–0.6). | ||||
| 425 lung cancer patients and 588 cancer-free controls. AT haplotypes were less common in the cancers (P= 0.0018). Compared to the TP73 GC/GC homozygotes, both the AT/AT variant homozygotes and GC/AT heterozygotes were associated with significantly decreased risk (OR = 0.45, 95% CI = 0.26–0.80 and OR = 0.70, 95% CI = 0.53–0.92, respectively). | [93] | |||
| Association with cancer risk | Study of 526 breast cancer patients with a median follow-up of 7.3 years.GC/GC genotype was associated with worse clinical outcome (P= 0.02).GC/GC genotype remained an independent indicator of poor prognosis (disease-free survival: HR = 1.82, P= 0.003 and overall survival: HR = 1.99, P= 0.004) in multivariate analysis. | [94] | ||
| Intron 1 del 73 bp | ||||
| Tumour and normal tissue from 81 colorectal cancer patients. 73 bp deletion was found in at least one allele in 40.7% of the patients, its presence was associated with advanced stages (P= 0.03), vascular invasion (P= 0.02), and lymph node metastases (P= 0.04). Statistical association was found between the presence of the deletion in hemi- or homozygosis and low levels of the TAp73 suppressor isoforms. | [96] | |||
| 45 colorectal and 43 breast cancer patients and 34 healthy controls. Allele with Intron 1 del 73 bp was significantly associated with increased risk of tumour (P= 0.045). | [95] | |||