Molecular Pathology — Flashcards

Flashcard 31: The _____ instability pathway of colorectal cancer is characterized by mutations or methylation of mismatch repair genes

Answer: microsatellite

Flashcard 32: Hirschsprung disease is associated with _____ mutations in the RET gene

Answer: inactivating

Flashcard 33: What point mutations in the HFE gene are typically seen with primary hemochromatosis? _____ (more common) and H63D

Answer: C282Y

Flashcard 34: _____ disorders are most commonly associated with polymorphisms in the PTPN22 gene

Answer: Autoimmune

Flashcard 35: What is the chromosomal translocation that results in malignancy from the **ABL** oncogene? _____

Answer: t(9;22)

Flashcard 36: What translocation is most commonly associated with infantile leukemia? _____

Answer: t(4;11)

Extra: This translocation involves the **KMT2A** (formerly **MLL**) gene on chromosome 11 and the **AF4** gene on chromosome 4. It is characteristically seen in infants <1 year old and carries a poor prognosis.

Flashcard 37: What is the chromosomal translocation associated with **Cyclin D1** (CCND1) overexpression in Mantle Cell Lymphoma? _____

Answer: t(11;14)

Flashcard 38: _____ is a protein from high-risk HPV that binds to p53.

Answer: E6

Flashcard 39: Mutations in MYCN can cause _____ due to a resultant amplification of the transcription factor's activity (nuclear regulator)

Answer: Neuroblastoma

Flashcard 40: The mechanism that results in malignancy from the **c-MYC** oncogene is _____, specifically t(8;14) in Burkitt lymphoma.

Answer: translocation