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Rare gene variants associated with side effects from chemotherapy with paclitaxel

Paclitaxel is a chemotherapeutic drug that has been shown to be highly effective when treating solid tumours, such as breast, ovarian and lung tumours. However, its use frequently causes , neurological problems that affect the vast majority of patients. Symptoms include tingling and pain in the extremities, cramping, muscular weakness and difficulty walking, in addition to others. In severe cases, the severity of these adverse effects mandates dosage reduction, and even stopping the treatment.

CNIO Study Scheme
This is a scheme illustrating the study that has identified variants in the CYP3A4 gene associated with paclitaxel severe neuropathy.


The study has been funded by the Ministry of Economy and Competitiviness, The , The and the Karolinska Institutet in Sweden.

Reference article:

Whole-Exome Sequencing Reveals Defective CYP3A4 Variants Predictive of Paclitaxel Dose-Limiting Neuropathy

Maria Apellaniz-Ruiz, , Lara Sanchez, , Isabel Calvo, Laura Garcia-Estevez, , Jesus Garcia-Donas, Beatriz Castelo, Eva Guerra, Luis J. Leandro-Garcia, Alberto Cascon, Inger Johansson, Mercedes Robledo, Magnus Ingelman-Sundberg, Cristina Rodriguez-Antona. Clinical Cancer Research (2014). doi: 10.1158/1078-0432.CCR-14-1758

Centro Nacional de Investigaciones Oncologicas (CNIO)