Associação Portuguesa de Investigação em Cancro
Genetic Variants in Amino Acid Transporters Associated with Prognosis in Colorectal Cancer
Genetic Variants in Amino Acid Transporters Associated with Prognosis in Colorectal Cancer
Wednesday, 18.03.2026
A study published in Anticancer Research identified genetic variants in SLC1A5, SLC7A5, and SLC3A2 associated with survival in colorectal cancer patients. These findings highlight the role of tumor genetics in prognostic stratification and personalized treatment approaches.
Authors and Affiliations:
Catarina Lopes (1,2,3), Catarina Macedo-Silva (4), Mónica Farinha (5), João Costa (5), Sofia Pinelas (6), Isabel Vilas-Boas (6), Mário Dinis-Ribeiro (1,7), Carina Pereira (1), Rui Medeiros (8,9)
1 - Precancerous Lesions and Early Cancer Management Group, Research Center of IPO Porto (CI-IPOP)/CI-IPOP@RISE (Health Research Group), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), 4200-072 Porto, Portugal
- 2 - Center for Health Technology and Services Research (CINTESIS@RISE), University of Porto, 4200-450 Porto, Portugal
- 3 - ICBAS – School of Medicine and Biomedical Sciences, University of Porto, 4050-313 Porto, Portugal
- 4 - Cancer Biology and Epigenetics Group, Research Center of IPO Porto (CI-IPOP)/CI-IPOP@RISE (Health Research Group)/Portuguese Oncology Institute of Porto (IPO Porto/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), 4200-072 Porto, Portugal
- 5 - Pathology Department, Portuguese Oncology Institute of Porto, 4200-072 Porto, Portugal
- 6 - & Oncology Department, Portuguese Oncology Institute of Porto, 4200-072, Porto, Portugal
- 7 - Gastroenterology Department, Portuguese Oncology Institute of Porto, 4200-072, Porto, Portugal
- 8 - Molecular Oncology and Viral Pathology Group, Research Center of IPO Porto (CI-IPOP)/CI-IPOP@RISE (Health Research Group), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), 4200-072 Porto, Portugal
- 9 - Research Department of the Portuguese League Against Cancer (PCC-NRNorte), 4200-177 Porto, Portugal
Abstract:
Background/Aim: Colorectal cancer (CRC) is the second leading cause of cancer-related deaths worldwide, with up to 20% of patients presenting with metastatic disease at diagnosis. The clinical relevance of amino acid transporters ASCT2 and LAT1 in CRC, particularly Caucasian populations, remains underexplored. This study evaluates the prognostic impact of single nucleotide polymorphisms (SNPs) in the genes encoding these transporters (SLC1A5, SLC7A5, and SLC3A2) in a European population. Patients and Methods: A total of 212 patients with CRC were included, with a median follow-up of 89 months. A tagSNP approach was applied to select 28 SNPs, genotyped using MassARRAY® iPLEX Gold Technology. Kaplan–Meier analysis, log-rank tests, and Cox proportional-hazards models were used to assess the association between SNPs and overall survival (OS). Multivariate models adjusted for clinicopathological covariates.
Results: Five tagSNPs were significantly associated with CRC prognosis. Specifically, SLC1A5 rs1862335 (p=0.040), SLC7A5 rs1060253 (p=0.022), and SLC3A2 rs12804553 (p=0.029) and rs2070870 (p=0.021) significantly affected five-year OS. In multivariate analysis, carriers of the SLC1A5 rs1862553 G allele had increased mortality risk (HR=1.88, 95%CI=1.09–3.23, p=0.022), as did carriers of the SLC3A2 rs12804553/rs2070870 T/C alleles (HR=2.22, 95%CI=1.24–3.99, p=0.007). Individuals harboring all three risk alleles had a 2.3-fold increased risk of death (HR=2.27, 95%CI=1.24–4.14, p=0.008).
Conclusion: Genetic variants in ASCT2 and LAT1-related genes are independently associated with survival in CRC, supporting personalized medicine and highlighting tumor heterogeneity in risk and treatment strategies.
Journal: Anticancer Research
