Biochemistry Module 1: Cancer genetics

What type of gene is not associated with the cause or recurrence of cancer but is still associated with mutation

Passenger gene

What type of gene is associated with facilitating development or is repeatedly found in the same cancer

Driver mutations

What are the two types of genes associated with causing cancer

Proto-oncogenes and tumor suppressor genes

What percentage of cancer patients have a hereditary disposition

15%

What disease inheritance category do most cancers fall under

Multifactorial inhertance

What are the two ways that a person can acquire retinoblastoma

Inheritance or spontaneous mutation

What are the features of hereditary retinoblastoma

Multiple tumors, found bilaterally, early onset

What are the features of spontaneous retinoblastoma

Single tumor, unilateral, later onset

What is the inheritance pattern for retinoblastoma

Autosomal dominant

What is the inheritance pattern for neurofibromatosis type 1

Autosomal dominant

What is the function of the NF1 gene

Produce neurofibromin (tumor suppressor)

What are the features of NF1

Complete penetrance, variable expressivity, mosaicism

What are the clinical features of NF1

neurofibromas, lisch nodules, cafe au lair spots

What is a neurfibroma

Tumor of the peripheral nerves

What cell types can be found in a neurofibroma

Schwann cells, fibroblasts, collagen

What is the inheritance pattern of neurofibromatosis type 2

Autosomal dominant

What is the hallmark feature of NF2 on MRI

Bilateral vestibular schwannomas

What is a schwannomas

Encapsulated mass found in nerve tissue

What cell type is found in schwannomas

Schwann cells

What is a verocay body

The separation of Schwann cell palisades by a nuclear free zone histologically

Where will you see verocay bodies

Schwannomas

What are clinical features of schwannomas

Symptoms due to compression of nerve or CNS tissue