SNP's use as a potential chemotoxicity stratification tool in breast cancer: from bench to clinic.
PMID 40261508 | DOI 10.1007/s10142-025-01602-4 · Functional & integrative genomics · 2025
Breast cancer (BC) remains one of the most prevalent malignancies affecting women worldwide, necessitating ongoing research to improve treatment outcomes and minimize adverse effects associated with chemotherapy. This article explores the role of genetic variations, particularly single nucleotide polymorphisms (SNPs), in influencing the efficacy and toxicity of chemotherapeutic agents used in BC treatment. It highlights the impact of polymorphisms in drug metabolism and transport genes, such as UDP-glucuronosyltransferase 1A1 (UGT1A1), carbonyl reductase 1 (CBR1), and ATP-binding cassette multidrug transporter (ABCB1) on the risk of adverse effects, including cardiotoxicity and hematological toxicities. By identifying specific SNPs associated with drug response and toxicity, this research underscores the potential for personalized medicine approaches to optimize treatment regimens, enhance therapeutic efficacy, and minimize side effects in BC patients. The findings advocate for the integration of genetic screening in clinical practice to improve patient outcomes and tailor chemotherapy based on individual genetic profiles.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | UGT1A1 | “It highlights the impact of polymorphisms in drug metabolism and transport genes, such as UDP-glucuronosyltransferase 1A1 (UGT1A1), carbonyl reductase 1 (CBR1), and ATP-binding cassette multidrug transporter (ABCB1) on the risk of adverse effects, including cardiotoxicity and hematological toxicities.” | 0.98 | hgnc_dict_v1 |
| gene | CBR1 | “It highlights the impact of polymorphisms in drug metabolism and transport genes, such as UDP-glucuronosyltransferase 1A1 (UGT1A1), carbonyl reductase 1 (CBR1), and ATP-binding cassette multidrug transporter (ABCB1) on the risk of adverse effects, including cardiotoxicity and hematological toxicities.” | 0.98 | hgnc_dict_v1 |
| gene | ABCB1 | “It highlights the impact of polymorphisms in drug metabolism and transport genes, such as UDP-glucuronosyltransferase 1A1 (UGT1A1), carbonyl reductase 1 (CBR1), and ATP-binding cassette multidrug transporter (ABCB1) on the risk of adverse effects, including cardiotoxicity and hematological toxicities.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “SNP's use as a potential chemotoxicity stratification tool in breast cancer: from bench to clinic.” | 0.98 | phenotype_alias_lexicon_v2 |