Cancer Dictionary

Genomic testing is a type of medical test that decodes the information within an individual's DNA. It examines the genetic makeup to identify genetic variants, which can help predict susceptibility to certain diseases, guide treatment plans, or evaluate how an individual might respond to certain drugs.

BRCA1/BRCA2 are genes that produce proteins suppressing tumor growth. Mutations in these genes can lead to increased risk of certain cancers, primarily breast and ovarian in women. BRCA genetic testing helps identify these mutations, crucial for cancer prevention and treatment strategies.

Tumor suppressor genes are a type of gene that makes a protein called a tumor suppressor protein, which helps regulate cell division. These genes primarily function to prevent cells from growing and dividing too rapidly or in an uncontrolled way, playing a vital role in preventing cancer. Mutations or abnormalities in these genes could lead to uncontrolled cell growth, leading to cancer.

JAK2 mutation refers to a change in the JAK2 gene often linked with certain types of blood disorders. This gene is responsible for making a protein that aids in promoting growth and division of cells. However, the mutation can lead the cells to multiply uncontrollably, sometimes resulting in conditions like polycythemia vera, essential thrombocytosis or primary myelofibrosis.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. These changes can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. This advanced science aids in the detection and prevention of multiple health conditions, making it a key component in personalized medicine.

Chromosome aberrations are changes in the normal structure or number of chromosomes, which can lead to genetic disorders or diseases. These changes can occur naturally or be induced by environmental factors, affecting how cells function or develop.

Basal cell nevus syndrome, also known as Gorlin syndrome, is a rare genetic condition that increases the risk of developing basal cell carcinoma, a type of skin cancer, along with other abnormalities in the skin, bones, and nervous system.

Chromosomal translocation is a genetic abnormality where a segment of one chromosome is transferred to another chromosome. This can disrupt gene function and lead to various medical conditions, including certain types of cancer.

Cytogenetics is the branch of genetics that studies the structure and function of cells, especially the chromosomes. It involves the examination of chromosomal abnormalities and their relation to disease, particularly genetic disorders and cancers.

DNA fragmentation refers to the breaking or splitting of DNA strands into pieces. This can occur naturally or be induced artificially and is often used in research and clinical settings to study genetic material or assess sperm quality.

Gene expression profiling is a technique used to measure the activity of thousands of genes at once to understand their involvement in various cellular processes. This information helps scientists and doctors determine how genes are turned on or off in different types of cells, which can be crucial for diagnosing diseases, understanding cancer progression, and personalizing treatments.

Gene silencing is a process through which a gene's expression is reduced or entirely prevented, meaning the gene is not used to make its protein product. This can occur naturally in cells or be induced artificially, and is a crucial mechanism for regulating gene activity and maintaining cellular function.

High-throughput sequencing, also known as next-generation sequencing, is a modern DNA sequencing technology that enables rapid sequencing of large amounts of DNA. It allows scientists to sequence entire genomes quickly and efficiently, making it an essential tool in genomics research and personalized medicine.

Homologous recombination deficiency (HRD) is a condition where cells lose the ability to effectively repair DNA double-strand breaks using the homologous recombination repair pathway. This deficiency can lead to genomic instability and is often associated with certain types of cancer, such as breast and ovarian cancers.

A zinc finger nuclease is a type of engineered protein that can cut DNA at specific sites, allowing for precise genetic modifications. These proteins combine a zinc finger DNA-binding domain with a DNA-cleaving enzyme, enabling targeted editing of genes.