Abstract
Cancer is a disease caused by a process that drives the transformation of normal cells into malignant cells. The late diagnosis of cancer has a negative impact on the health care system due to high treatment cost and decreased chances of favorable prognosis. Here, we aimed to identify orofacial conditions that can serve as potential risk markers for cancers by performing a phenome-wide scan (PheWAS). From a pool of 6,100 individuals, both genetic and epidemiological data of 1,671 individuals were selected: 350 because they were previously diagnosed with cancer and 1,321 to match to those individuals that had cancer, based on age, sex, and ethnicity serving as a comparison group. Results of this study showed that when analyzing the individuals affected by cancer separately, tooth loss/edentulism is associated with SNPs in AXIN2 (rs11867417 p = 0.02 and rs2240308 p = 0.02), and leukoplakia of oral mucosa is associated with both AXIN2 (rs2240308 p = 0.03) and RHEB (rs2374261 p = 0.03). These phenotypes did not show the same trends in patients that were not diagnosed with cancer, allowing for the conclusion that these phenotypes are unique to cases with higher cancer risk.
Highlights
Cancer is a complex disease based on a process that drives the transformation of normal cells into their malignant derivatives[1]
We report an analysis of a cohort enriched with individuals diagnosed with cancer using PheWAS in an attempt to identify oral health outcomes and genetic variants that may be indicators of cancer risk. nominal associations were found when the cancer-affected patients were analyzed separately
For both single nucleotide polymorphisms (SNPs) in RHEB, the less frequent alleles appeared to be protective of having periodontitis in the cancer diagnosed individuals, and having anomalies of jaw size/ symmetry in the total sample
Summary
Cancer is a complex disease based on a process that drives the transformation of normal cells into their malignant derivatives[1]. We can predict risk for cancer through the presence of genetic variants or through visual anatomical characteristics/ phenotypic traits that have been linked to an increased risk of developing the disease. Can have pleiotropic effects, such as in periapical pathology and periodontitis, which we identified in our previous study[18] Identifying more of these effects and phenotypes, could provide us with a better understanding of drug development and how certain medications could act in different conditions. In this present study, our hypothesis was that identifying different phenotypes associated with specific polymorphisms that may be associated with cancer would allow us to determine which patients are at higher risk for this condition. To the best of our knowledge, this was the first time a PheWAS was applied to oral health outcomes, to identify clinical cancer risk markers
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