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CDKN2A common variant and multi-organ cancer risk--a population-based study
Tadeusz Debniak1, Rodney J Scott, Tomasz Huzarski
1Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. debniak@wp.pl
The CDKN2A A148T variant is more common in Polish lung cancer patients. This common variant may increase the risk for multiple cancers in the Polish population, warranting further investigation.
Area of Science:
- Genetics
- Oncology
- Population Studies
Background:
- The population frequencies of common CDKN2A variants are largely unknown.
- A specific CDKN2A variant, A148T (alanine to threonine substitution), is prevalent in Poland.
- Previous research indicated this variant is overrepresented in Polish melanoma patients.
Purpose of the Study:
- To determine the prevalence of the CDKN2A A148T variant in a large Polish cohort.
- To investigate the association between the A148T variant and various cancer types in Poland.
Main Methods:
- Genotyping of the CDKN2A A148T variant in 3,583 unselected cancer cases.
- Genotyping of the CDKN2A A148T variant in 3,000 random control subjects from the Polish population.
- Analysis of eleven common cancer types.
Main Results:
- A significant positive association was found between the A148T variant and lung cancer (OR, 2.0; p = 0.0052).
- A trend towards association was observed for colorectal cancer (OR, 1.5; p = 0.5499), though not statistically significant after correction.
- The variant's prevalence was assessed across multiple common cancer sites.
Conclusions:
- The CDKN2A A148T variant is associated with an increased risk of lung cancer in the Polish population.
- The findings suggest a potential role for the A148T variant in multi-organ cancer susceptibility.
- Further research is needed to elucidate the full impact of this variant on cancer risk.
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