Genetics and Cancer Biology Vocabulary

Vocabulary flashcards generated from lecture notes covering genetic mutations, chromosomal aberrations, oncogene functions, protein kinases, histone modifications, and epigenetics.

Point mutation

A mutation in a single point

Missense mutation

Results in an incorrect amino acid

Nonsense mutation

Results in a stop codon

Transitions

Swaps a purine for a purine (a to g) or swaps a pyrimidine for a pyrimidine (t to c)

Transversions

Swaps a purine for a pyrimidine (a/g to t/c) or swaps a pyrimidine for a purine (t/c to a/g)

Frameshift mutations

Gain or loss of one or two base pairs

Chromosomal aberrations

Gross chromosomal rearrangements

Inversion

Swapping of the order of a chromosome

Duplication

Adding an additional part to a chromosome that already exists

Deletion

Removal of a part of a chromosome

Insertion

The addition of a part of a chromosome not previously seen

Translocation

A genetic change where a piece of a chromosome breaks off and attaches to another

Aneuploidy

Loss of gain of one or more chromosomes

Chromosome 1

Special because it contains tumor suppressor genes and is the largest

Oncogene Cell Growth

Helps to regulate cell growth and division

Oncogene Cell Surface Function

Act as surface receptors on cells

Oncogene Signal Function

Involved in signal transduction

Oncogene Binding

Act as DNA binding Nuclear proteins

Oncogene Mitogenic Signals

Involved in the Execution of Mitogenic Signals which regulate the cell cycle

PDGF

Growth factors

HGF

Growth factors

TGF-alpha

Growth factors

VEGF

Growth factors

WNT-1

Growth factors

IGF-2

Growth factors

ERBB (also known as EGF-R)

Receptor tyrosine kinase (RTK)

ERBB2 (also known as Her2 or Neu receptor)

Receptor tyrosine kinase (RTK)

KIT

Receptor tyrosine kinase (RTK)

RET

Receptor tyrosine kinase (RTK)

MET (also known as HGF-R)

Receptor tyrosine kinase (RTK)

SRC

Non receptor tyrosine kinase

ABL

Non receptor tyrosine kinase

YES

Non receptor tyrosine kinase

LCK

Non receptor tyrosine kinase

H-RAS

Guanosine triphosphatases (GTpases)

K-RAS

Guanosine triphosphatases (GTpases)

N-RAS

Guanosine triphosphatases (GTpases)

RAF-1

Serine/threonine kinases

Histone acetylation

Adding acetyl groups to lysines turns on the chromosome

Histone methylation

Adding methyl groups to arginines (inactivation) and lysines (can activate or inhibit depending on the modification)

Histone phosphorylation

establishes interactions with other histone modifications

RNA interference

Other forms of RNA that stick to mRNA

CCND1 function

A regulator of cell proliferation

CCND1 cancers

breast, lung, melanoma, and oral squamous cell carcinomas

CCND1 cell cycle

Regulates G1 with CDK 4/6

ERBB2 (Her2) function

Respond to external cues of the cell to activate PIK3 and Ras

ERBB2 cancer

occurs in approximately 15-30% of breast cancers

FISH

Fluorescent in situ hybridization

FISH usage

A probe that binds to ERB2 and Cyclin D1 in cells fluorescently (normal is 2 glowing objects)

Epigenetic changes

Different chemical groups can be attached to genetic material

Epigenetic changes unique

Reversible but can still turn on oncogenes

DNA methylation

A methyl group is attached to the DNA; turns off a gene

Hypermethalation

Blocks gene expression