Molecular Pathology — Flashcards

_____ syndrome is associated with a WT1 gene deletion on chromosome 11p13

_____ syndrome is caused by a congenital microdeletion of chromosome 5p (short arm)

Null mutations in _____ gene, encoding a regulatory subunit of a cAMP dependent protein kinase, results in the Carney complex

_____ is a tyrosine kinase gene that undergoes a point mutation to form GIST (gastrointestinal stromal tumor)

Chronic exposure to Aflatoxins may cause cancer by causing a _____ --> T:A transversion in codon 249 of the TP53 gene

In Philadelphia chromosome, the reciprocal translocation is t(9;22)(q_____;q11)

_____ syndrome is associated with a WT2 gene mutation

The t(_____;18) translocation results in overexpression of Bcl2, resulting in inhibition of apoptosis

Gain of functions in the BRAF oncogene result in _____, non-hodgkins lymphoma, papillary thyroid carcinoma and hairy cell leukemia

What point mutations in the HFE gene are typically seen with primary hemochromatosis? _____ (more common) and H63D