Table 1

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

Sample	Origin	Exon	Nucleotide change	Consequence	Amino acid change	Domain	Consensus
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 3	Germline	Promoter	+8 T>C*
	Somatic	25	3149 T>C	I1050T	Non-polar>polar	IC6	Yes

MSI 5	Germline	Promoter	+8 T>C*
	Somatic	4	209 T>C	L70P	Non-polar>non-polar	TM1	Yes

MSI 11	Somatic	Promoter	−14 G>T
	Germline	28	3793 G>A	G1265S	Non-polar>polar	IC6	Yes

MSI 19	Somatic	Promoter	−29 G>A
	Somatic	20	2422-2426 del A	Frameshift		IC4

MSI 22	Germline	Promoter	+8 T>C*

MSI 34	Germline	8	729 A>G	E243 no change	/	/	/