Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer

Germline allele-specific expression of the gene encoding () occurs more frequently in colorectal cancer patients than in healthy controls. This was shown in a study by Laura Valle and her colleagues from The Ohio State University (USA).

The genetic predisposition for colorectal cancer in humans may, to large extent, not be explained yet. The scientists analysed a Caucasian-dominated population in the USA where they found allele-specific expression to occur in 10-20% of colorectal cancer patients but only in 1-3% of controls.

Allele-specific expression leads to reduced expression of the gene. It is a dominantly inherited trait that segregates in families and appears sporadically in colorectal cancer cases. The reduction of expression leads to a change in -mediated signalling.

There are two major haplotypes of that predominate among cases of allele-specific expression. Estimations are that allele-specific expression comes with a considerably increased risk of colorectal cancer. These estimations, however, still have to be confirmed and will most probably reveal ethnic differences.

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