Molecular Pathology — Flashcards

_____ syndrome is an autosomal recessive disease characterized by immotile cilia due to a dynein arm defect

_____ is a tumor suppressor gene that encodes a negative regulator of the -catenin/WNT pathway

A translocation of _____ from chromosome 8 to 14 results in overexpression and ultimately Burkitt lymphoma

Copy-number gains in the _____ proto-oncogene on chromosome 2p are particularly common in Hodgkin's lymphoma

_____ syndrome is due to an inherited defect in DNA mismatch repair enzymes, resulting in microsatellite instability

The RET _____ encodes for the RET receptor tyrosine kinase, which is involved in embryological developmentThis is a growth factor receptor found commonly in MEN 2A, 2B and medullary carcinoma of thyroid

_____ is an inherited point mutation in the prothrombin gene that results in increased gene expression

A translocation of _____ from chromosome 9 to 22 results in overexpression and ultimately CML, some forms of ALL

4% of patients with non-small cell lung carcinoma have an _____ of chromosome 2 that creates an fusion gene between EML4 and ALK

How can a Robertsonian translocation cause chromosomal imbalance in offspring? _____