L4 Understanding Cancer Genomics and Mutations

Flashcards covering key vocabulary terms and concepts related to cancer genomics and mutations.

Genomics

The study of genomes, the complete set of DNA in an organism, and its functions.

Somatic mutations

Mutations that occur in cells that are not sperm or egg cells and cannot be inherited.

Driver mutations

Mutations that contribute to cancer progression by providing a growth advantage to tumor cells.

Passenger mutations

Mutations that do not affect cancer progression and are acquired randomly.

Whole genome sequencing

A comprehensive method used to determine the complete DNA sequence of an organism's genome.

Tumor heterogeneity

The presence of diverse subpopulations of cells within a tumor, resulting from genetic variations.

Single cell sequencing

A technique to analyze the genetic material of individual cells, allowing for detailed insights into tumor evolution.

Circulating tumor DNA (ctDNA)

Fragments of DNA shed by tumors into the bloodstream, used to monitor cancer progression.

Copy number variation (CNV)

Alterations in the number of copies of a particular gene, often found in cancer cells.

Aneuploidy

An abnormal number of chromosomes in a cell, commonly observed in cancer.

Next-generation sequencing (NGS)

High-throughput methods that allow for rapid sequencing of large amounts of DNA.

Karyotype

A laboratory procedure that examines the number and appearance of chromosomes.

Fluorescence in situ hybridization (FISH)

A technique used to detect and localize specific DNA sequences on chromosomes.

EGFR

Epidermal growth factor receptor, a protein implicated in many cancers that can be targeted by specific therapies.

Mutation hotspots

Regions of the genome that are particularly prone to mutations.

Targeted therapy

Treatment designed to specifically target cancer cells based on their genetic makeup.

Genetic polymorphism

A variation in the DNA sequence that may lead to different traits within a population.

Epigenetic changes

Heritable changes in gene function that do not involve changes to the underlying DNA sequence.

BRAF mutation

A specific mutation in the BRAF gene, commonly associated with various cancers, including melanoma.

Selective pressure

An environmental factor that drives natural selection and influences evolutionary changes in a population.

Allele dropout

A phenomenon where one allele of a gene is preferentially amplified during PCR, leading to misrepresentation in sequencing results.