GN 2.2.2 Clinical Correlations Lynch Syndrome

Question 1

What is the inheritance of Lynch Syndrome?

Answer 1

Autosomal dominant

Question 2

What is the underlying genetic cause of Lynch Syndrome?

Answer 2

Mutations in the mismatch repair genes: MSH2, MSH6, MLH1, or PMS2.

Question 3

What is an example of how microsatellite DNA has an effect in Lynch Syndrome?

Answer 3

MSI induces frameshift mutations in the transforming growth factor receptor II gene ( TGFBR2 ). Mutations within TGFBR2 cause the loss of TGFβRII expression, which reduces the ability of TGFβ to inhibit the growth of colonic epithelial cells.