Molecular Pathology — Flashcards

Flashcard 41: _____ syndrome is an autosomal recessive disease characterized by immotile cilia due to a dynein arm defect

Answer: Kartagener

Flashcard 42: _____ is an inherited point mutation in the prothrombin gene that results in increased gene expression

Answer: Prothrombin 20210A

Flashcard 43: The RET _____ encodes for the RET receptor tyrosine kinase, which is involved in embryological development. This is a growth factor receptor found commonly in MEN 2A, 2B and medullary carcinoma of thyroid

Answer: proto-oncogene

Flashcard 44: _____ syndrome is due to an inherited defect in DNA mismatch repair enzymes, resulting in microsatellite instability

Answer: Lynch

Flashcard 45: Copy-number gains in the _____ proto-oncogene on chromosome 2p are particularly common in Hodgkin's lymphoma

Answer: REL

Flashcard 46: _____ is a tumor suppressor gene that encodes a negative regulator of the β-catenin/WNT pathway

Answer: APC

Flashcard 47: A translocation of _____ from chromosome 8 to 14 results in overexpression and ultimately Burkitt lymphoma

Answer: c-MYC

Flashcard 48: How can a Robertsonian translocation cause chromosomal imbalance in offspring? _____

Answer: A gamete containing the translocated chromosome is passed on alongside a normal copy of one of the involved chromosomes (e.g., t(14;21) + normal 21)

Extra: Robertsonian translocations involve two acrocentric chromosomes (13, 14, 15, 21, 22). Carriers have 45 chromosomes but are phenotypically normal. Imbalance occurs during meiosis when the translocated chromosome segregates with a normal homolog, resulting in trisomy (e.g., Trisomy 21) or monosomy in the offspring.

Flashcard 49: _____ of the lung is associated with activating mutations in the KRAS, EGFR, and ALK genes

Answer: Adenocarcinoma

Flashcard 50: _____ syndrome is caused by a congenital microdeletion of chromosome 7q (long arm)

Answer: Williams