Genomic pathology

Point mutation?

Single nucleotide change

Silent mutation?

Same protein is coded for

Nonsense mutation?

STOP signal is given

Missense mutation?

codes for different protein

KRAS mutation means what for the patient? and what type of cancer?

Resistant to EGFR-blocking drugs. Colorectal cancer

HER2 is involved in which cancers?

Breast, gastric, GEJ

Which disease for BRAF mutation?

Melanoma

JAK2 V617F is found in?

Polycythaemia vera, essential thrombocythemia, primary myelofibrosis

Philadelphia chromosome?

BCR-ABL1

Sanger sequencing is best for? Disadvantage?

Small targeted tasks. Lower throughput

Advantage of NGS?

Higher throughput and better at looking at overall genomes

qPCR measures?

Transcription load

What is the point of a “no template” control in PCR?

To show DNA is free from contamination

What is FISH best for testing for?

Fusion genes on a single cell basis

KIT D816V identifier for?

Mast cell leukaemia

How does DNA methylation typically influence gene expression?

By inducing transcriptional silencing through chromatin compaction

Which clinical condition is associated with a Robertsonian translocation between chromosomes 14 and 21?

Down syndrome

In the context of oncology, what is the primary consequence of an activating mutation in the KRAS gene?

Activation of downstream signalling pathways

Which of the following is a critical factor for maintaining DNA integrity during clinical sample processing?

Avoiding repeated freeze-thaw cycles

What is the fundamental principle of Multiplex PCR?

Detect multiple loci simultaneously

A patient presents with a phenotype that is only expressed when a specific allele is inherited from the father, due to the silencing of the maternal allele. Which epigenetic mechanism is responsible for this phenomenon?

Genomic imprinting

Which of the following characteristics distinguishes mitochondrial DNA (mtDNA) from nuclear DNA (nDNA)?

Absence of histones

During the process of translation, which RNA molecule is responsible for bringing the specific amino acid to the ribosome by recognizing the mRNA codon?

Transfer RNA

What is the primary molecular defect in the most common form of Cystic Fibrosis ($\Delta F508$)?

Three base pair deletion

In Multiplex PCR, what is the most critical factor to ensure all target sequences are amplified with similar efficiency?

Uniform annealing temps