Table 1

Mutations and germline promoter functional polymorphism in the MDR1 gene identified in colorectal cancers with microsatellite instability

SampleOriginExonNucleotide changeConsequenceAmino acid changeDomainConsensus
IC=intracelular domain, TM=transmembrane domain.
*This polymorphism was also identified in microsatellite stable tumours and in controls. Nucleotide numbering according to Kohno et al.[19]
MSI 3GermlinePromoter+8 T>C*
Somatic253149 T>CI1050TNon-polar>polarIC6Yes
MSI 5GermlinePromoter+8 T>C*
Somatic4209 T>CL70PNon-polar>non-polarTM1Yes
MSI 11SomaticPromoter−14 G>T
Germline283793 G>AG1265SNon-polar>polarIC6Yes
MSI 19SomaticPromoter−29 G>A
Somatic202422-2426 del AFrameshiftIC4
MSI 22GermlinePromoter+8 T>C*
MSI 34Germline8729 A>GE243 no change///