Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy
Por:
Pare, L, Paez, D, Salazar, J, del Rio, E, Tizzano, E, Marcuello, E, Baiget, M
Publicada:
1 ago 2010
Resumen:
AIMS
To study the relationship between the toxicity associated with a 5-FU-based therapy and the presence of (i) the large intragenic rearrangements in the DPYD gene and (ii) the IVS14+1G>A mutation.
METHODS
We used the multiplex ligation-dependent probe amplification technique (MLPA) to study genomic DNA from 234 colorectal cancer patients treated with 5-FU-based chemotherapy.
RESULTS
We did not detect any deletion/duplication in the DPYD gene. The presence of the IVS14+1G>A mutation was also excluded.
CONCLUSIONS
Neither the large genomic rearrangements in the DPYD gene nor the IVS14+1G>A mutation play a significant role in the development of serious toxicity associated with a 5-FU containing regimen.
Filiaciones:
Pare, L:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Genet, E-08193 Barcelona, Spain
Paez, D:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Clin Oncol, E-08193 Barcelona, Spain
Salazar, J:
Ctr Biomed Res Rare Dis CIBERER, U 705, Barcelona, Spain
del Rio, E:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Genet, E-08193 Barcelona, Spain
Tizzano, E:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Genet, E-08193 Barcelona, Spain
Marcuello, E:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Clin Oncol, E-08193 Barcelona, Spain
Baiget, M:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Genet, E-08193 Barcelona, Spain
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