PT  - JOURNAL ARTICLE
AU  - Kleist, Britta
AU  - Kempa, Marcel
AU  - Meurer, Thuja
AU  - Poetsch, Micaela
TI  - Correlation between <em>DPYD</em> gene variation and <em>KRAS</em> wild type status in colorectal cancer
AID  - 10.1136/jclinpath-2015-202903
DP  - 2016 Mar 01
TA  - Journal of Clinical Pathology
PG  - 204--208
VI  - 69
IP  - 3
4099  - http://jcp.bmj.com/content/69/3/204.short
4100  - http://jcp.bmj.com/content/69/3/204.full
SO  - J Clin Pathol2016 Mar 01; 69
AB  - Aims Failure and side effects of combined cytotoxic therapy are challenges in the treatment of metastatic colorectal cancer (CRC). DPYD gene variations can potentially predict toxicity to 5-fluorouracil (FU)-based therapy and KRAS-, NRAS-, BRAF-, PIK3CA-wild type status is a known prerequisite for epidermal growth factor receptor (EGFR) inhibitor therapy. This study was performed to search for a possible link between these therapeutic markers.Methods The DPYD gene variations c.496A>G, c.1679T>G, c.2846A>T and KRAS/NRAS/BRAF/PIK3CA mutational status were determined in non-neoplastic, primary CRC and metastatic CRC tissue from 115 patients.Results The polymorphism c.496A>G was the DPYD gene variant with the highest detection rate (12.9%), occurred predominantly in females (86.7%, p=0.0044) and was exclusively seen in KRAS wild type primary CRC (15/65 (23.1%) vs 0/51 (0%) in KRAS-mutated primary CRC, respectively, p=0.0001).Conclusions This genetic profile could define a patient group requiring alternative combined therapeutic approaches. Global testing of large patient cohorts is necessary to prove this concept.