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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…
75 terms
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.
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…
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…
35 terms
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
61 terms
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
18 terms
Genetics of Cancer I
Normal → Hyperplastic → Dysplastic → N…
Normal with a mutation.... Hyperplasia.... D…
Monoclonal. It is more likely that one…
All cells from cancers in females have…
What is the progression of tumors using the following terms:…
The following shows cancer cell progression. What would each…
Argument has taken place as to whether cancer is derived from…
How have X-inactivation studies supported the monoclonal canc…
Normal → Hyperplastic → Dysplastic → N…
What is the progression of tumors using the following terms:…
Normal with a mutation.... Hyperplasia.... D…
The following shows cancer cell progression. What would each…
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…
16 terms
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…
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…
8 terms
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…
8 terms
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…
27 terms
Cancer Genetics
Gene amplification and how it can be o…
The two cytogenetic manifestation of g…
Homogenous staining region
Double minutes
Amplification- a physical increase in the number of DNA copie…
1. homogenous staining regions... 2. Double Minutes
1homogenous staining regions: when a broad region of the chro…
small, paired, eccentric chromatin bodies- they contain only…
Gene amplification and how it can be o…
Amplification- a physical increase in the number of DNA copie…
The two cytogenetic manifestation of g…
1. homogenous staining regions... 2. Double Minutes
108 terms
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 -…
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…
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…
28 terms
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…
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…
21 terms
Cancer Genetics
Causes of cancer
Cancer in families
Knudson's two hit model
Classes of cancer genes
genetic- changes occur that regulate proliferation, not germl…
inherit predisposition not disease
Rb- 2 types... bilateral- runs in families... unilateral- appears s…
tumor suppressor- control cell cycle, RB1, CDK inhibitors... on…
Causes of cancer
genetic- changes occur that regulate proliferation, not germl…
Cancer in families
inherit predisposition not disease
68 terms
Cancer Genetics
HBOC-BRCA1
HBOC- BRCA2
Cowden Syndrome
What are the criteria for Cowden syndr…
Responsible Genes: BRCA1 Loci: chr 17... Proteins: Inheritance:…
Responsible Genes: BRCA2 Loci: chr 13... Inheritance: AD... Clinica…
• AD inheritance... • PTEN mutations at 10q23.3... • De novo rate:…
Pathognomonic criteria... 1) Adult Lhermitte-Duclos disease (LDD…
HBOC-BRCA1
Responsible Genes: BRCA1 Loci: chr 17... Proteins: Inheritance:…
HBOC- BRCA2
Responsible Genes: BRCA2 Loci: chr 13... Inheritance: AD... Clinica…
42 terms
Cancer Genetics
neoplasm
tumor
benign
malignant
tumor
cell that has abnormal, uncontrolled growth -- benign and mal…
not invasive (not cancer)
invades surrounding tissues and/or metastasize --> cancer
neoplasm
tumor
tumor
cell that has abnormal, uncontrolled growth -- benign and mal…
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
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
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…
40 terms
Genetics and Cancer
Traits
Example of a trait
Example of a trait
Example of a trait
Physical characteristics (what organisms look like)
hair color
webbed toes
ability
Traits
Physical characteristics (what organisms look like)
Example of a trait
hair color
31 terms
Cancer Genetics
Basic principles of cancer genetics
Genetic mutations that cause a normal…
Proto-Oncogenes vs. Tumor Suppressor G…
Heritable Cancers
1. Acquisition of the cancerous phenotype occurs at the genet…
Again, acquisition of the cancerous phenotype requires the ac…
ex. Proto-Oncogenes = Ras... ex. Tumor Suppressor Gene = Rb & p53
<10% of human cancers are heritable. ... Those that are heritab…
Basic principles of cancer genetics
1. Acquisition of the cancerous phenotype occurs at the genet…
Genetic mutations that cause a normal…
Again, acquisition of the cancerous phenotype requires the ac…
25 terms
Cancer Genetics
Describe the characteristic features o…
Can you name some tumor suppressors?
Describe the characteristic features o…
Can you name some important proto-onco…
Normal activity of gene is to suppress (or restrain) growth.m…
Rb (Retinoblastoma)... p53... APC (Adenomatous Polyposis Coli)... BRCA…
oncogenes transition from regulated to unregulated cell growt…
Ras... EGF receptor Family... Her2/erbB-2... Abl... Bcl
Describe the characteristic features o…
Normal activity of gene is to suppress (or restrain) growth.m…
Can you name some tumor suppressors?
Rb (Retinoblastoma)... p53... APC (Adenomatous Polyposis Coli)... BRCA…
43 terms
Genetics of Cancer
Principle of segregation
Principle of independent assortment
Alleles
Somatic cells are generally
Sexually reproducing organisms posses genes that occur in pai…
Genes at different loci are transmitted independently
variants of the same gene
diploid (23 paris of chromosomes (22 autosomal pairs and 1 pa…
Principle of segregation
Sexually reproducing organisms posses genes that occur in pai…
Principle of independent assortment
Genes at different loci are transmitted independently
19 terms
Cancer Genetics
cancer
chromosome abnormalities in cancer
sporadic
familial
variety of malignant tumors that are formed by uncontrolled c…
first cytogenetic abnormality seen was t(9;22) with fusion of…
not related to a family history and no known inherited compon…
clustering of cancer (usually the same type) in a family
cancer
variety of malignant tumors that are formed by uncontrolled c…
chromosome abnormalities in cancer
first cytogenetic abnormality seen was t(9;22) with fusion of…
15 terms
Cancer Genetics
What is a tumor?
What are attributes of cancer cells?
Do more aggressive cancers have more o…
How does cancer mutations progress?
Disease of hyperproliferating cells... - Benign: Does not invade…
- Unregulated cell proliferation... - Invasion of other tissues…
Less differentiated cells
- One mutation gives one cell an advantage... - Second mutation…
What is a tumor?
Disease of hyperproliferating cells... - Benign: Does not invade…
What are attributes of cancer cells?
- Unregulated cell proliferation... - Invasion of other tissues…
34 terms
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…
23 terms
cancer genetics
list three classes of mutations that c…
4 components of growth factor signalin…
HER2 mutations associated with what... wh…
two genes with hereditary breast cancer
oncogenes... tumor suppressor genes... oncomirs
HER2 boobs have caner
BRCA1... BRCA1
list three classes of mutations that c…
oncogenes... tumor suppressor genes... oncomirs
4 components of growth factor signalin…
33 terms
Cancer Genetics
initial screening of cancer
constitutional symptoms and signs of c…
may avoid "liability threshold" toward…
Cancer types (mutations)
history taking
**weight loss, fever, fatigue, malaise... -hemorrhage, pain and/…
-good choices (environmental) to make up for bad genes
1) sporadic = key mutations acquired during lifespan, so incr…
initial screening of cancer
history taking
constitutional symptoms and signs of c…
**weight loss, fever, fatigue, malaise... -hemorrhage, pain and/…
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%
58 terms
Cancer Genetics
Somatic Mutation
What is the percentage of mutations ar…
Which of the following is a malignant…
RB1 gene
Takes place in a body cell, can affect the organism, not pass…
99%
Retinoblastoma
Tumor suppressing protein pRB controls G1/S transition in cel…
Somatic Mutation
Takes place in a body cell, can affect the organism, not pass…
What is the percentage of mutations ar…
99%
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
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
18 terms
Cancer Genetics
State 6 causes of mutagenesis
How do cancer cells differ from normal…
3 stages of immunoediting
Immunoediting - elimination
1. Spontaneous... 2. Chemical carcinogens... 3. Virus-induced, e.g.…
- Clonal mutations... - Deregulated growth and lifespan... - Loss o…
1. Elimination... 2. Equilibrium... 3. Escape
Involves innate and adaptive immune cells attacking tumour ce…
State 6 causes of mutagenesis
1. Spontaneous... 2. Chemical carcinogens... 3. Virus-induced, e.g.…
How do cancer cells differ from normal…
- Clonal mutations... - Deregulated growth and lifespan... - Loss o…
12 terms
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
9 terms
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.... -…
7 terms
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
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…
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…
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…
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…
66 terms
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
Cancer Genetics
general cancer definition
proliferation
neoplasia
metastasis
-somatic cell dysfunction due to dysregulation of cell growth…
-growth of a cell population by mitotic division
-production of excess cells (not necessarily cancerous); exce…
-movement of cancerous cells from site of origin to a new site
general cancer definition
-somatic cell dysfunction due to dysregulation of cell growth…
proliferation
-growth of a cell population by mitotic division
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…
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…
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