Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2023”

Hereditary Cancer in Clinical Practice 2024, 22(1):A1Colorectal cancer is one of the most common types of cancer in both men and women.There are several approaches to detect early colorectal cancer including testing relevant markers in stool or blood (proteins; DNA; mRNA and long non-coding RNA; microRNA; metabolites, gut microbiome and platelets) as well as algorithms using machine learning techniques.Invasive methods of early detection of colorectal cancer include: colonoscopy, sigmoidoscopy and colonography based on computed tomography.There is a need to identify new markers for early detection of colorectal cancer.The influence of elements and inherited changes in genes on cancer risk and incidence has been one of the issues studied in the last decades.In this study we examined whether blood arsenic and/or copper levels combined with specific polymorphisms can be used as a marker for colorectal cancer detection.A retrospective case-control studies were performed among 187 colorectal cancer patients and 187 matched controls.All participants provided written informed consent to be enrolled into the following study.Information about: age, sex, smoking status and familial aggregation of cancer was obtained from all participants.All diagnosed participants were asked about additional clinical data related with colorectal cancer.From each study participant pre-treatment peripheral blood was collected for arsenic and copper level measurements using inductively coupled-plasma mass spectrometry (ICP-MS) and for genotyping.Selected variants in ten genes were genotyped: rs13181 in ERCC2, rs1799782 in XRCC1, rs7191779 in MT1B, rs1695 in GSTP1, rs2032582 in ABCB1, rs1800566 in NQO1, rs12915189 in CRTC3, rs1050450 in GPX1, rs4880 in SOD2, and rs1001179 in CAT .According to the study results -a low blood arsenic level (0.27-0.67 g/L) was associated with an increased frequency of colorectal cancer among women (OR: 3.69; p = 0.005).This correlation was significantly greater among women carrying functional polymorphisms: CAT rs1001179 -nonCC (OR:19.4;p = 0.001); ABCB1 rs2032582 -CC (OR:14.8;p = 0.024); GPX1 rs1050450 -CC (OR: 11.6; p = 0.002) and CRTC3 rs12915189 -nonGG (OR: 10.3; p = 0.003).As a result of the research performed, it was also observed that high blood copper level (931-2 043 g/L) is associated with an increased incidence of colorectal cancer (OR: 12.7; 95% CI: 4.98-32.3;p < 0.001).This correlation was significantly greater among study participants carrying particular gene variants: ABCB1 rs2032582-nonCC (OR: 33.7; 95% CI: 4.04-281; p = 0.001); MT1B rs7191779-nonGG (OR: 16.6; 95% CI: 3.32-83.4;p < 0.001); CAT rs1001179-CC (OR: 16.1; 95% CI: 3.68-70.7;p < 0.001); SOD2 rs4880-nonGG (OR: 15.9; 95% CI: 3.27-77.0;p < 0.001); GSTP1 rs1695-nonAA (OR: 15.9; 95% CI: 1.54-164; p = 0.02) and XRCC1 rs1799782-CC (OR: 15.6; 95% CI: 5.00-48.5;p < 0.001).Based on above studies it can be stated that blood arsenic and copper level measurements can be valuable marker in order to select patients for further colorectal cancer diagnostics.Selection effect for colorectal cancer diagnosis can be stronger among individuals with particular gene polymorphisms.