Study sets matching "cancer genetics"

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Study sets matching "cancer genetics"

367 terms
Cancer Genetics
Heterochronic/ectopic mutations are co…
RET __________ mutations cause MEN2 by…
Pheochromocytomas are usually benign t…
Sporadic leukemia involving translocat…
Hereditary Persistence of Fetal Hb (HPFH)
Gain of function / Point mutations via activating phosphoryla…
Catecholemines ... MEN2
Chronic myelogenous leukemia (CML)... BCR-ABL, RET gene, increas…
Heterochronic/ectopic mutations are co…
Hereditary Persistence of Fetal Hb (HPFH)
RET __________ mutations cause MEN2 by…
Gain of function / Point mutations via activating phosphoryla…
60 terms
Genetics 5 - Cancer Genetics
3 Types of Cancer Genes
Cancer
Cancer: Inherited vs Somatic Mutations
Retrovirus Lifecycle
1.) Oncogenes... 2.) Tumor Suppressor Genes... 3.) DNA Repair/Cell…
Cancer is a disease of the genome. There are 3 different type…
Both can be important... Somatic mutations: ast majority of ge…
1.) Retroviruses contain a single RNA strand, copied into DNA…
3 Types of Cancer Genes
1.) Oncogenes... 2.) Tumor Suppressor Genes... 3.) DNA Repair/Cell…
Cancer
Cancer is a disease of the genome. There are 3 different type…
Cancer Genetics
Passenger Mutations
Driver Mutations
Types of tumor suppressor genes
Landscapers
mutations that occur as cancer develops rather than causing t…
repeatedly found to be mutated at high frequency in many samp…
Caretakers, Landscapers and Gatekeepers
heterozygous mutation leads to an altered microenvironment an…
Passenger Mutations
mutations that occur as cancer develops rather than causing t…
Driver Mutations
repeatedly found to be mutated at high frequency in many samp…
Cancer Genetics
Cancer
In order for cells to become cancerous
Tumorigenesis
Neoplasm/Tumor
A collection of disorders that share the common feature of un…
become resistant to signals that normally inhibit cell growth.
formation of tumors
mass of cells due to uncontrolled cell growth
Cancer
A collection of disorders that share the common feature of un…
In order for cells to become cancerous
become resistant to signals that normally inhibit cell growth.
19 terms
Cancer Genetics
Oncogenes
Germline
Somatic
RB
Mutations, chromosome rearragements, gene amplifications, or…
Mutations found in the egg or sperm; the mutation will be fou…
Mutations that occur in body cells often due to carcinogens i…
Mutation in this gene causes eye tumors (especially in peds);…
Oncogenes
Mutations, chromosome rearragements, gene amplifications, or…
Germline
Mutations found in the egg or sperm; the mutation will be fou…
34 terms
Cancer Genetics
Ames Test
Carcinogenic
Reality of Ames Test
Pancreatic Cancer
His-... In presence of a first site suppressor: his+... No chemical…
Producing cancer... Causing mutations
Want to test a variety of strands... Each may cause a different…
Dom Pallidum Gene... Cancer is largely inheritable, but it is mo…
Ames Test
His-... In presence of a first site suppressor: his+... No chemical…
Carcinogenic
Producing cancer... Causing mutations
32 terms
Cancer genetics
do all cancers involve genetic changes?
where do most gene mutations in cancer…
what are other predisposing factors in…
can somatic mutations be inherited?
yes
somatic cells; acquired... some mutations do occur in germline a…
infection (virus), radiation, carcinogens, immunological defe…
no
do all cancers involve genetic changes?
yes
where do most gene mutations in cancer…
somatic cells; acquired... some mutations do occur in germline a…
Cancer Genetics
Tumor
Benign tumor
Malignant tumor
Metastasis tumor
multiple malignant cells that ... -first derived from an over pr…
remains localized
invades other tissues
leave site of original tumor and travel to other parts of the…
Tumor
multiple malignant cells that ... -first derived from an over pr…
Benign tumor
remains localized
Cancer Genetics / Genetic Counseling
What are some indications that a cance…
Most hereditary cancer susceptibility…
What are some examples of the less com…
What is Hereditary Breast and Ovarian…
-Cancer at early ages;... -Multiple primary cancers in one perso…
-autosomal dominant;... -however, some cancer syndromes have sig…
-MUTYH-associated polyposis (MAP) which are 30-100 colon poly…
-mutations in BRCA1 and/or BRCA2 genes;... -most common mutation…
What are some indications that a cance…
-Cancer at early ages;... -Multiple primary cancers in one perso…
Most hereditary cancer susceptibility…
-autosomal dominant;... -however, some cancer syndromes have sig…
40 terms
Cancer Genetics
What causes cancer?
What three types of mutations can lead…
All cancer is ______________. Not all…
Most cancer is __________.
Alterations/mutations in the genetic code of a specific cell
Spontaneous mutations in DNA replication... Induced mutations... In…
Genetic... Hereditary
Sporadic
What causes cancer?
Alterations/mutations in the genetic code of a specific cell
What three types of mutations can lead…
Spontaneous mutations in DNA replication... Induced mutations... In…
27 terms
Cancer Genetics
tumor that remains localized
tumor cells that invade other tissues
tumors that move to other sites
Discovered the multi hit hypothesis
benign
malignant
metatasis
Alfred Knudson
tumor that remains localized
benign
tumor cells that invade other tissues
malignant
Genetics of Cancer
tumor
bening
malignant
mechanisms causing cancer
distinct mass of abnormal cells that usually lose their regul…
cells of the tumor remain localized
cells of the tumor invades other tissues ans also travel to o…
few cancers have high heritability (1%)... most are sporadic (99…
tumor
distinct mass of abnormal cells that usually lose their regul…
bening
cells of the tumor remain localized
9 terms
Cancer genetics
complete brachyanalysis
oncotypedx
TNM Staging for breast carcinomas
invasive breast cancer
Standard gene test consisting of a panel for mutations in BRC…
A test that examines the tissue of a cancer patient's tumor o…
takes into account the size of the tumour (T), whether the ca…
Invasive breast cancer occurs when cancer cells from inside t…
complete brachyanalysis
Standard gene test consisting of a panel for mutations in BRC…
oncotypedx
A test that examines the tissue of a cancer patient's tumor o…
29 terms
Genetics of Cancer
Somatic Mutations that may cause cancer
Germline Mutations
Types of Cancer Genes
Tumor markers
- Occur in non-germline tissues (breast, colon, lung, blood c…
- Occur initially in eggs or sperm... - Are heritable... - Once inh…
- Tumor suppressors: brakes (BRCA1/2, APC, VHL, TP53, PTEN)... -…
- Various methods used to test tumor tissue or bodily fluid... -…
Somatic Mutations that may cause cancer
- Occur in non-germline tissues (breast, colon, lung, blood c…
Germline Mutations
- Occur initially in eggs or sperm... - Are heritable... - Once inh…
49 terms
Cancer Genetics - Breast Cancer
What percent of BrCa is hereditary?
What percent of OvCa is hereditary?
*Which are high penetrance, AD inherit…
Gene and prominent tumors: HBOC
5% - 10%
10%
1. Hereditary Breast and Ovarian Cancer (HBOC)... 2. Li-Fraumeni…
BRCA1 & BRCA2... Breast, Ovarian
What percent of BrCa is hereditary?
5% - 10%
What percent of OvCa is hereditary?
10%
Cancer Genetics
neoplasia
tumor suppressor genes
gate-keepers
caretakers
caused by loss of BOTH copies... 1) Two Hit Model: all cancer i…
gate-keepers... caretakers... landscapers
control growth directly, and block tumors... p53, Rb, NF type 1…
integrity of genome and prevent accumulation of mutations... BR…
neoplasia
caused by loss of BOTH copies... 1) Two Hit Model: all cancer i…
tumor suppressor genes
gate-keepers... caretakers... landscapers
Cancer genetics
How are defects in DNA repair "caretak…
genetic cancer syndromes involve what…
Proto-oncogenes
tumor suppressor genes "gatekeeper gen…
Autosomal recessive traits (xeroderma pigmentosa)
1. DNA repair... 2. proto-oncogenes... 3. tumor suppressor genes
-promote cell proliferation and division (accelerator)... -activ…
-"brakes" on cell growth.... -must be inactivated for cell to pr…
How are defects in DNA repair "caretak…
Autosomal recessive traits (xeroderma pigmentosa)
genetic cancer syndromes involve what…
1. DNA repair... 2. proto-oncogenes... 3. tumor suppressor genes
Cancer Genetics
Cancer
rapidly, tumors
clonal evolution
benign tumor
_____ refers to a group of disorders characterized by the pre…
- cancer cells divide ____ and continuously... - these cells cre…
describes this process in which a tumor cell acquires mutatio…
the tumor remains localized
Cancer
_____ refers to a group of disorders characterized by the pre…
rapidly, tumors
- cancer cells divide ____ and continuously... - these cells cre…
30 terms
Cancer Genetics
Cancer cells have..
Cancer
Hyperplasia
Anaplasia
*uncontrolled cell division--alteration of cell cycle... *abilit…
*mass of tissue cells with unlimited potential to divide/grow…
*uncontrolled cell division ... *immortal and invasive
*structure/function of cell is undifferentiated
Cancer cells have..
*uncontrolled cell division--alteration of cell cycle... *abilit…
Cancer
*mass of tissue cells with unlimited potential to divide/grow…
34 terms
Cancer Genetics
Proto-Oncogene
Oncogene
Oncogene: dominant or recessive?
MEN2 oncogene
Genes whose normal function is to promote cell growth and pro…
Mutated or amplified proto-oncogene allowing for unregulated…
Dominant... (one hit to cause disease)
RET
Proto-Oncogene
Genes whose normal function is to promote cell growth and pro…
Oncogene
Mutated or amplified proto-oncogene allowing for unregulated…
Cancer Genetics
Oncogenesis
Two hit model
Sporadic disorder
Hereditary Disorder
development of cancer (abnormal gene expression)
2 somatic mutations versus one inherited and somatic mutation
Late onset... single tumor... 2 somatic mutations
Early onset... Multiple tumors... 1 inherited and 1 somatic
Oncogenesis
development of cancer (abnormal gene expression)
Two hit model
2 somatic mutations versus one inherited and somatic mutation
88 terms
genetics week 9: Cancer Genetics
what is cancer?
In order for cells to become cancerous…
Neoplasm/Tumor
Tumorigenesis
A collection of disorders that share the common... feature of un…
resistant to signals that normally... inhibit cell growth
mass of cells due to... uncontrolled cell growth
formation of tumors
what is cancer?
A collection of disorders that share the common... feature of un…
In order for cells to become cancerous…
resistant to signals that normally... inhibit cell growth
cancer genetics
cancer
tumour suppressor gene
Kudson's two hit hypothesis
- usually disease of elderlies caused by mutation of somatic…
- genes involved in the control of abnormal proliferation.... -…
- based on observation of retinoblastoma... - applicable to any…
cancer
- usually disease of elderlies caused by mutation of somatic…
tumour suppressor gene
- genes involved in the control of abnormal proliferation.... -…
23 terms
Cancer Genetics
The Cancer Genome Atlas
Cancer cell division
#1 cause of mutations
Driver mutations
tissue samples from cancer patients, genomic DNA analysis of…
proliferation, anti-apoptosis, growth, motility, invasiveness…
external affects
drive cells to be tumorgenic
The Cancer Genome Atlas
tissue samples from cancer patients, genomic DNA analysis of…
Cancer cell division
proliferation, anti-apoptosis, growth, motility, invasiveness…
43 terms
Cancer genetics
Proto-oncogene
Oncogene
MEN2 (multiple endocrine neoplasia) is…
MEN2 mutation risk of medullary cancer
Wt version of an oncogene s.a. growth factors and their recep…
Mutated protooncogene that leads to increased expression of t…
RET proto-oncogene
95-100%
Proto-oncogene
Wt version of an oncogene s.a. growth factors and their recep…
Oncogene
Mutated protooncogene that leads to increased expression of t…
Genetics-Cancer
Cyclin dependent Kinase (Cdk)
cyclin
G1 restriction point... Rb and cyclin D
Cancer related to Cyclin D
serine/threonine kinases
concentration cycles up and down- Cdk fx depends on cyclin bi…
Growth Factors->(Ras/Raf signals)-> Myc transcription-> synth…
gain of function mutations... -Let's E2F run rampant; passes G…
Cyclin dependent Kinase (Cdk)
serine/threonine kinases
cyclin
concentration cycles up and down- Cdk fx depends on cyclin bi…
40 terms
Cancer Genetics
6 hallmarks of cancer
Examples of proto-oncogenes
Characteristic of oncogene activating…
Qualitative Oncogene Activation
self sufficiency in growth signals, insensitivity to anti-gro…
growth factors and their receptors, cytoplasmic signal transd…
dominant and result in gain of function
Point mutation or small insertion/deletions, i.e. KRAS activa…
6 hallmarks of cancer
self sufficiency in growth signals, insensitivity to anti-gro…
Examples of proto-oncogenes
growth factors and their receptors, cytoplasmic signal transd…
Cancer Genetics
metastasis
oncogene
tumor-suppressor gene
proto-oncogene
Refers to cells that separate from malignant tumors and trave…
Dominant-acting gene that stimulates cell division, leading t…
Gene that normally inhibits cell division. Recessive mutation…
Normal cellular gene that controls cell division. When mutate…
metastasis
Refers to cells that separate from malignant tumors and trave…
oncogene
Dominant-acting gene that stimulates cell division, leading t…
22 terms
Genetics Cancer
Behavior of cancer cells
Structure of cancer cells
Behavior of regular cells
Structure of regular cells
-Grow and divide in an uncontrolled manner... -Invade normal tis…
-Eventually lose all the specific differentiated appearance o…
-Responds to signals for apoptosis ... -Non-migratory... -Different…
-Orderly, well regulated growth... -Small nuclear: cytoplasmic r…
Behavior of cancer cells
-Grow and divide in an uncontrolled manner... -Invade normal tis…
Structure of cancer cells
-Eventually lose all the specific differentiated appearance o…
17 terms
Cancer Genetics
ALL cancers have/arise from...
forms of cancer (3)
tumorigenesis is a ____ process
genes implicated in cancer (3)
GENETIC ALTERATIONS/genetic component
- sporadic (~75%)... - familial (~15%) = runs in families bu…
multi-step
- oncogenes... - tumor suppressor genes... - DNA repair genes
ALL cancers have/arise from...
GENETIC ALTERATIONS/genetic component
forms of cancer (3)
- sporadic (~75%)... - familial (~15%) = runs in families bu…
84 terms
Cancer Genetics
Second most cause of death after heart…
1 in __ will develop cancer in their l…
Most common age range for cancer
Most forms of cancer are
cancer
3
50-80... Or leukemia 2-10
sporadic
Second most cause of death after heart…
cancer
1 in __ will develop cancer in their l…
3
48 terms
Cancer Genetics
lung, breast, prostate, colon
southeast US
neoplasm
metastasis
Big 3 cancer killers
region with highest cancer mortality
new growth
spreading to different tissues
lung, breast, prostate, colon
Big 3 cancer killers
southeast US
region with highest cancer mortality
23 terms
Cancer Genetics
Cancer is a Genetic Disease
Three major groups of cancers
Classification of Genes responsible fo…
Protooncogenes:
Cancer refers to a group of diseases where cells proliferate…
Carcinomas... from epithelial tissue ... Skin, intestinal epitheliu…
Most types of cancer develop through the progressive accumula…
Genes that can be turned into oncogenes (through a dominant a…
Cancer is a Genetic Disease
Cancer refers to a group of diseases where cells proliferate…
Three major groups of cancers
Carcinomas... from epithelial tissue ... Skin, intestinal epitheliu…
44 terms
Genetics Cancer
Adeno
Chondro
Erythro
Hemangio
Gland
Cartilage
Red Blood Cells
Blood vessels
Adeno
Gland
Chondro
Cartilage
18 terms
Cancer Genetics
CDH1 mutation
TP53 mutation
PTEN mutation
STK11 mutation
increased likelihood of hereditary diffuse gastric cancer (80…
Li Fraumeni syndrome following this germline mutation (20% ar…
Cowden syndrome... increased risk for breast cancer, thyroid ca…
Peutz-Jehgers syndrome... first sign is blue/brown freckling on…
CDH1 mutation
increased likelihood of hereditary diffuse gastric cancer (80…
TP53 mutation
Li Fraumeni syndrome following this germline mutation (20% ar…
26 terms
Cancer genetics
Cancer is multi-step process
Proto-oncogenes
Qualitative mechanism of oncogene acti…
Point mutations, small insertions/dele…
Takes 3-7 mutations for single cells to transform in a malign…
Normal gene that promotes cell growth and survival, oncogene…
Production of modified/novel protein. Include point mutations…
KRAS (intracell GTP-bind prot.) acts as molec "on-off switch"…
Cancer is multi-step process
Takes 3-7 mutations for single cells to transform in a malign…
Proto-oncogenes
Normal gene that promotes cell growth and survival, oncogene…
Cancer Genetics
Li-Fraumeni syndrome
Hereditary retinoblastoma
Hereditary breast and ovarian cancer (…
Familial adenomatous polyposis
germ line mutation of p53 tumor suppressor gene... causes multip…
germ line mutation of RB1 tumor suppressor gene... RB holds bac…
germ line mutation of BRCA1 or 2 tumor suppressor gene... BRCA1…
germ line mutation of the APC gene... acts in a protein degrada…
Li-Fraumeni syndrome
germ line mutation of p53 tumor suppressor gene... causes multip…
Hereditary retinoblastoma
germ line mutation of RB1 tumor suppressor gene... RB holds bac…
34 terms
Cancer genetics
Cancer genetics
p53 gene... p53 tumor surpressor
p53 gene
p53 gene mode of action
accumulation of alterations in somatic cell genes
alterations of this gene are associated with greater then 50%…
-17p13.1... -20 kb genomic DNA... -11 exons/10 introns... -393 amino a…
-DNA binding protein... activates regulators of cell proliferat…
Cancer genetics
accumulation of alterations in somatic cell genes
p53 gene... p53 tumor surpressor
alterations of this gene are associated with greater then 50%…
25 terms
Cancer Genetics
CML Overview
Oncogene Definition
Acute Promyelocytic Leukemia (APL) Ove…
Tumor Suppressors Overview
• Relatively common form of leukemia... • t(9;22) Ph' (Philadelp…
• And porto-oncogenes are...... 1. GFs... 2. cell surface receptors…
• 15;17 translocation breaking the PML gene on chromosome 15…
• Generally form solid tumors... • Cell to cell interactions... • R…
CML Overview
• Relatively common form of leukemia... • t(9;22) Ph' (Philadelp…
Oncogene Definition
• And porto-oncogenes are...... 1. GFs... 2. cell surface receptors…
36 terms
Cancer Genetics
carcinogens
epithelial cells
carcinomas
sarcomas
what causes DNA mutations in cancer
what cells do carcinomas affect
cancer of epithelial cells, cover external and internal body…
cancer of supporting tissue, bone, cartilage, fat, connective…
carcinogens
what causes DNA mutations in cancer
epithelial cells
what cells do carcinomas affect
genetics, cancer
Genetics
Genomics
genes
genetic mutations
-Study of genes and their role in inheritance... -Determines how…
-Study of all of an individual's genes (the genome) and how t…
-Genome is an individual's genetic makeup.... -Control how a cel…
-Any change in usual DNA sequence... -Germline mutations... -Acquir…
Genetics
-Study of genes and their role in inheritance... -Determines how…
Genomics
-Study of all of an individual's genes (the genome) and how t…
Cancer Genetics
Sporadic Mutation
Tumor suppressor genes
Mismatch Repair Genes
Gain of Fxn Mutations
Account for 90-95% of sporadic cancers... (5-10% are hereditary,…
(loss of fxn mutation)... Rb, NF1, p53, APC... -all restrict cell g…
(loss of fxn mutation)... MLH1, MSH2, MSH6... -maintain correct DNA…
growth and transcription factors--oncogenes (RET, BCR-ABL)
Sporadic Mutation
Account for 90-95% of sporadic cancers... (5-10% are hereditary,…
Tumor suppressor genes
(loss of fxn mutation)... Rb, NF1, p53, APC... -all restrict cell g…
27 terms
Genetics: cancer
Hereditary vs sporadic cancer: two hit…
Loss of heterozygosity: how does that…
The two major mechanisms of neoplastic…
Genes that inhibit cell growth, negati…
hereditary: you already have one mutation you inherited, anot…
loss of normal allele somehow, so allows mutated allele to ma…
two hit hypothesis and Loss of heterozygosity
tumor suppressor genes
Hereditary vs sporadic cancer: two hit…
hereditary: you already have one mutation you inherited, anot…
Loss of heterozygosity: how does that…
loss of normal allele somehow, so allows mutated allele to ma…
80 terms
Cancer Genetics
all cancers result from...
are all cancers hereditary?
number one risk factor for all cancers
the older we are the more likely we ar…
mutations
no
age
we accumulate mutations throughout our lifespan!
all cancers result from...
mutations
are all cancers hereditary?
no
Cancer Genetics
Cancer
Anaplasia
Angiogenesis
Dysplasia
-disease of uncontrolled growth of abnormal cells in the body…
-loss of differentiation and reversion to a more primitive fo…
-formation of new blood cells ... -tumors use this to support th…
-abnormal cell formation in size, shape, or arrangement of ce…
Cancer
-disease of uncontrolled growth of abnormal cells in the body…
Anaplasia
-loss of differentiation and reversion to a more primitive fo…
75 terms
cancer genetics
how are oncogenes activated? (4)
how many hits to inactivate a TSG?
examples of TSGs
what can cause mutations to DNA damage…
viral insertion... point mutation... chromosome rearrangement... gene…
2
Rb... wilms... BRCA1... p53... APC
ionizing radiation... UV radiation... DNA cross linking agents
how are oncogenes activated? (4)
viral insertion... point mutation... chromosome rearrangement... gene…
how many hits to inactivate a TSG?
2
Cancer Genetics
NCI definition of cancer
origins of word 'cancer' - Hippocrates
origins of word 'cancer' - Celsus
origins of word 'cancer' - Galen
a term for diseases in which abnormal cells divide without co…
-tumors are found mostly in adults... -look like a moving crab -…
-crab like fingers of tumor cells... -translates 'carcinos' to '…
-'oncos' (Greek for swelling)--->oncology
NCI definition of cancer
a term for diseases in which abnormal cells divide without co…
origins of word 'cancer' - Hippocrates
-tumors are found mostly in adults... -look like a moving crab -…
232 terms
Cancer Genetics
What is cancer?
dysregulation of genes
mutagen
carcinogens
1. cells growing out of uncontrol... 2.cells gain ability to mov…
1. mutations via changes in DNA sequences... 2.epigenetic change…
causes mutations i.e. changes in the DNA sequences, all mutag…
cancer causing or resulting
What is cancer?
1. cells growing out of uncontrol... 2.cells gain ability to mov…
dysregulation of genes
1. mutations via changes in DNA sequences... 2.epigenetic change…
Cancer Genetics
evidence for cancer as a genetic disor…
acquired capabilities of cancer
evolution of cancer
aneuploidy and cancer
cellular level: cancer cells divide and produce more cancer c…
- evading apoptosis, self-sufficiency in growth signals, inse…
- all cancers originate from a single cell... - follow darwinian…
- consistently seen... in tumors... - imbalance causes abnormal gen…
evidence for cancer as a genetic disor…
cellular level: cancer cells divide and produce more cancer c…
acquired capabilities of cancer
- evading apoptosis, self-sufficiency in growth signals, inse…
Cancer Genetics
Cancer Predisposition
Knudson's 2-Hit Hypothesis
Loss of Function Genes in Tumorigenesis
Gain of Function Genes in Tumorigenesis
1. All cancers are due to DNA mutations; most mutations are a…
This hypothesis states that a cell can initiate a tumor only…
1. Most common mutation type for inherited (germline) predisp…
1. Rarely inherited (a few exceptions)... 2. A single somatic ge…
Cancer Predisposition
1. All cancers are due to DNA mutations; most mutations are a…
Knudson's 2-Hit Hypothesis
This hypothesis states that a cell can initiate a tumor only…
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