Apoptosis and DNA Repair

Extrinsic pathway of apoptosis

Pathway triggered by external signals to induce programmed cell death

Intrinsic pathway of apoptosis

Pathway triggered by internal signals, such as DNA damage, to induce programmed cell death

BID

Protein that links the extrinsic and intrinsic pathways of apoptosis

p53

Tumor suppressor gene that triggers apoptosis

PTEN

Tumor suppressor gene that suppresses cell survival and promotes apoptosis

BCL-2 family of genes

Genes involved in regulating apoptosis and preventing excessive proliferation

Lynch syndrome

Hereditary nonpolyposis colorectal cancer caused by mutations in DNA mismatch repair genes

Xeroderma Pigmentosum

Genetic disorder characterized by the inability to repair UV light damage to DNA, leading to increased skin cancer risk

Ataxia telangiectasia

Genetic disorder characterized by neurodegeneration, immunodeficiency, and increased risk of lymphoma

Common cancer mutations

Mutations in specific genes associated with various types of cancer

Telomeres

Repetitive DNA sequences at the ends of chromosomes that regulate chromosomal integrity and cell lifespan

Telomerase

Enzyme that maintains telomeres and is activated in most cancer cells, allowing for immortalization

Activation of growth promoting oncogenes

One of the four classes of regulatory genes that, when mutated, can lead to cancer development

Inactivation of tumor suppressor genes

One of the four classes of regulatory genes that, when mutated, can lead to cancer development

Regulation of apoptosis

One of the four classes of regulatory genes that, when dysregulated, can lead to cancer development

DNA repair genes

One of the four classes of regulatory genes that, when mutated, can lead to cancer development

APC

Tumor suppressor gene involved in colon cancer development

B-catenin

Protein involved in abnormal transcription in colon cancer

BRCA-1/BRCA-2

DNA repair genes associated with breast cancer development

C-MYC

Gene involved in Burkitt Lymphoma and other cancers

ERBB1

Gene encoding epidermal growth factor receptor, associated with lung adenocarcinoma

ERBB2/HER2

Gene encoding receptor tyrosine kinase, amplified or overexpressed in breast carcinomas

P53

Tumor suppressor gene associated with numerous cancers

RB

Tumor suppressor gene associated with retinoblastoma and osteosarcoma

Ubiquitin

Protein involved in the regulation of p53

MLH1, MSH2, MSH6, PMS2

DNA mismatch repair genes mutated in Lynch syndrome

FAP

Familial adenomatous polyposis, a form of colon cancer caused by mutations in the APC gene

Microsatellite instability

Repetitive DNA sequences caused by defective DNA mismatch repair

Nucleotide excision repair

DNA repair mechanism impaired in Xeroderma Pigmentosum

ATM

Gene mutated in Ataxia Telangiectasia, leading to defective DNA damage signaling and repair

Telangiectasia

Dilated blood vessels seen in Ataxia Telangiectasia

Heterogeneous cell population

Population of cancer cells with different genetic mutations and characteristics