patho 2 test 1 both ppts combined

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Questions and Answers

What is the hallmark of cancer that involves uncontrolled cellular proliferation?

Sustained proliferative signaling (correct)

Deregulating cellular energetics

Avoiding immune destruction

Genomic instability

What is a result of a mutation in a proto-oncogene?

Cell death

Growth suppression

Normal cell division

Checkpoint dysfunction (correct)

What type of mutation can activate oncogenes?

Deletion mutation

Point mutation

Translocation mutation (correct)

Frameshift mutation

What is the result of a cell not obeying normal signals for cell division?

Uncontrolled cell division Signup and view all the answers

What is the name of the gene that encodes for a growth factor receptor?

HER2/neu Signup and view all the answers

What type of effect can increase the risk of cancer?

All of the above Signup and view all the answers

What is the result of a cell not being able to divide indefinitely?

Cell death Signup and view all the answers

What is the purpose of checkpoints in the cell cycle?

To check DNA damage Signup and view all the answers

What is the name of the treatment for cancers that overexpress HER2/neu?

Herceptin Signup and view all the answers

What is the result of a translocation mutation leading to Burkitt Lymphoma?

Production of a proliferative factor Signup and view all the answers

What is the primary characteristic of cancer?

An uncontrolled division of abnormal cells in a part of the body Signup and view all the answers

What is the role of angiogenesis in tumor progression?

It is essential for tumor growth and survival Signup and view all the answers

What is the difference between dysplasia, carcinoma in situ, and invasive cancer?

Dysplasia is a precancerous lesion, carcinoma in situ is a type of cancer that has not invaded surrounding tissues, and invasive cancer is a type of cancer that has invaded surrounding tissues Signup and view all the answers

What is the relationship between genetic and epigenetic alterations and cancer?

Genetic and epigenetic alterations accumulate over time and contribute to the development of cancer Signup and view all the answers

What is the pattern of cancer incidence and mortality in the US?

Pancreas and ovary have a lower incidence but a higher percentage of deaths, while breast and prostate cancers are more survivable Signup and view all the answers

What is the relationship between inheritance and cancer?

The majority of cancers are not inherited, but some are Signup and view all the answers

What is the term for the study of the structure and function of cells and tissues in cancer?

Tissue Pathology Signup and view all the answers

What is the role of environment, heredity, and behavior in cancer development?

They interact to modify the risk of developing cancer and the response to treatment Signup and view all the answers

What is the characteristic of malignant tumors that distinguishes them from benign tumors?

Loss of differentiation Signup and view all the answers

What is the term for the study of the functions and interactions of all the genes in the genome?

Genomics Signup and view all the answers

What is the term for a premalignant condition characterized by increased cell growth and cellular atypia?

Dysplasia Signup and view all the answers

What type of cancer arises from epithelial tissues?

Carcinoma Signup and view all the answers

What is the term for a preinvasive epithelial tumor of glandular or squamous cell origin?

Carcinoma In Situ Signup and view all the answers

What is the term for the genetic changes that occur in somatic cells and are not inherited?

Sporadic mutation Signup and view all the answers

What is the term for a cancer that is caused by a strong cancer gene inherited through a germ cell line?

Hereditary cancer Signup and view all the answers

What is the term for the study of the interactions between genes and environmental factors that lead to disease?

Genomics Signup and view all the answers

What is the term for a biopsy of the cervix that involves removing a chunk of tissue?

Histology specimen Signup and view all the answers

What is the term for the progression of dysplasia to carcinoma in situ?

Normal to cancer Signup and view all the answers

What is the main challenge in treating cancer?

The immune system does not target tumor cells as they appear to be 'self' Signup and view all the answers

What is the primary purpose of surgery in cancer treatment?

To obtain tissue for diagnosis and staging of disease Signup and view all the answers

Which type of cancer is well-suited for radiation therapy?

Localized cancer in areas hard to reach surgically Signup and view all the answers

What is the goal of targeted cancer therapy?

To target unique growth characteristics of a specific class of tumor Signup and view all the answers

What is the result of the T(9;22) translocation in chronic myeloid leukemia?

A new BCR-ABL fusion protein that promotes growth of myeloid cells Signup and view all the answers

What is the primary mechanism of chemotherapy agents?

Attacking rapidly dividing cells Signup and view all the answers

What is the function of the Rb protein in normal cells?

To monitor antigrowth signals and block cell division Signup and view all the answers

What is the definition of a benign tumor?

A slow-growing tumor that is non-invasive and does not metastasize Signup and view all the answers

What is the function of the p53 protein in normal cells?

To detect genomic damage and halt the cell cycle Signup and view all the answers

What is the minimum number of mutations required to inactivate a tumor suppressor gene?

One mutation in each allele Signup and view all the answers

What is the purpose of immunotherapy in cancer treatment?

To get T-cells to target unique antigens on cancer cells Signup and view all the answers

What is the classification of cancer based on?

Tissue and organ of origin, extent of distribution, microscopic appearance, and critical genetic changes Signup and view all the answers

What is the characteristic of cancer cells that leads to tumor growth and metastasis?

Lack of contact inhibition Signup and view all the answers

What is the characteristic of malignant tumors?

Rapidly growing with hemorrhage and necrosis, locally invasive, and metastatic Signup and view all the answers

What is the result of the inactivation of tumor suppressor genes in cancer cells?

Unregulated cell growth Signup and view all the answers

What is the main difference between benign and malignant tumors?

Benign tumors are slow-growing and non-invasive, while malignant tumors are rapidly growing and invasive Signup and view all the answers

What is the function of Imatinib in the treatment of chronic myeloid leukemia?

To target the BCR-ABL fusion protein Signup and view all the answers

What is the hallmark of cancer characterized by the formation of new blood vessels?

Inducing angiogenesis Signup and view all the answers

What is the characteristic of familial cancer syndromes?

Caused by inherited mutations in tumor suppressor genes Signup and view all the answers

What is the result of the Philadelphia chromosome in chronic myeloid leukemia?

The formation of a BCR-ABL fusion protein Signup and view all the answers

What is the role of angiogenic factors and angiogenic inhibitors in wound healing?

They control development of new vessels Signup and view all the answers

Why is access to blood supply important for the growth and spread of cancer?

It delivers oxygen and nutrients to the tumor Signup and view all the answers

What is the role of HIF-1α in cancer?

It increases angiogenesis Signup and view all the answers

What is the effect of inactivating tumor suppressor genes or increasing oncogenes in cancer?

Increased HIF-1α and angiogenesis Signup and view all the answers

What is the effect of increased HIF-1α on cancer?

Increased resistance to chemotherapy Signup and view all the answers

What is the function of angiogenesis inhibitors in normal tissue?

They decrease vessel growth Signup and view all the answers

Why are vessels formed within tumors different from those in healthy tissue?

They are more permeable and prone to hemorrhage Signup and view all the answers

What is the function of apoptosis in cells?

It self-destructs cells Signup and view all the answers

What is the role of p53 in apoptosis?

It is part of the intrinsic pathway for apoptosis Signup and view all the answers

What is the use of tumor markers?

To screen and identify individuals at high risk for cancer Signup and view all the answers

What is the characteristic of familial cancers?

Multiple family members have the same cancer Signup and view all the answers

How do we determine if a cancer is hereditary?

Through family history and genetic testing Signup and view all the answers

What is the significance of a family pedigree in determining hereditary cancer?

It helps to narrow down which gene to test for and whom to consider testing Signup and view all the answers

What is the characteristics of an autosomal dominant disorder?

One of the parents must have the disorder Signup and view all the answers

What is the percentage of breast cancer cases that are inherited in the US?

5-10% Signup and view all the answers

What is the function of the BRCA1 and BRCA2 genes?

They are involved in DNA repair Signup and view all the answers

What is the lifetime risk of developing breast cancer for women with a BRCA1 or BRCA2 mutation?

50-80% Signup and view all the answers

What is the risk of colorectal cancer in people with one affected first-degree relative?

2-3 times higher Signup and view all the answers

What is the function of the APC gene in Familial Adenomatous Polyposis (FAP)?

It encodes a tumor suppressor Signup and view all the answers

What is the lifetime risk of colorectal cancer in individuals with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)?

80% Signup and view all the answers

What is the consequence of DNA repair being affected?

Cancer-causing mutations persist in cells leading to tumor growth Signup and view all the answers

What is the purpose of Genetic Counseling?

To evaluate family history and counsel on inherited cancer risk and management Signup and view all the answers

Who may be suggested for Predictive Genetic Testing?

People with a strong family history of certain types of cancer, those already diagnosed with cancer, and family members of those with inherited gene mutations Signup and view all the answers

What is Hereditary Nonpolyposis Colorectal Cancer (HNPCC) associated with?

Increased risk of colon, endometrial, ovarian, stomach, small intestine, biliary tract, renal, and skin cancers Signup and view all the answers

What criteria are used to identify patients with HNPCC mutations?

Both Bethesda and Amsterdam Criteria Signup and view all the answers

Study Notes

Biology of Cancer

Cancer is a disease caused by uncontrolled division of abnormal cells in a part of the body.
It is a collection of more than 100 different diseases, each caused by a specific and often unique age-related accumulation of genetic and epigenetic alterations.
Environment, heredity, and behavior interact to modify the risk of developing cancer and the response to treatment.

Hallmarks of Cancer

There are 8 hallmarks and 2 traits that enable cancer progression.
The hallmarks of cancer include:
- Sustaining proliferative signaling
- Evading growth suppressors
- Resisting cell death
- Inducing angiogenesis
- Activating invasion and metastasis
- Tumor-promoting inflammation
- Enabling replicative immortality
- Deregulating cellular energetics
- Genomic instability and mutation
- Avoiding immune destruction

Cell Cycle and Cell Division

Checkpoints are found at G1, S, and M (in Metaphase of M) phases of the cell cycle.
G1 checkpoint: cell checks for DNA damage and resources availability.
S checkpoint: cell checks for DNA errors.
M checkpoint: cell checks for sister chromatid attachment to mitotic spindles.
Proto-oncogenes: normally ensure that checkpoints are followed.
Mutated proto-oncogenes are called oncogenes, which can cause checkpoint dysfunction.

Oncogenes and Tumor-Suppressor Genes

Oncogenes: genes that encode components of pathways that regulate normal cell proliferation.
Her2/neu: a gene that encodes for a growth factor receptor, often overexpressed in breast cancer.
Tumor-suppressor genes: genes that regulate the cell cycle and inhibit proliferation.
Examples of tumor-suppressor genes: Rb, p53, BRCA1.
Rb: contributes to the control of cell division, regulates antigrowth signals.
p53: detects genomic damage, halts the cell cycle, and initiates DNA repair.

Inheritance and Cancer

Inactivation of tumor-suppressor genes requires at least two mutations (one in each allele).
A single mutation in the germline cells (sperm or egg) results in the transmission of cancer-causing genes from one generation to the next.
Familial cancer syndromes: caused by loss of tumor-suppressor gene function, examples include Retinoblastoma, Li-Fraumeni syndrome, and Familial melanoma.

Angiogenesis

Angiogenesis: the process of establishing new blood vessels.
Hypoxia-inducible factor 1alpha (HIF-1⍺): a major regulator of angiogenesis in normal tissue.
In cancer, HIF-1⍺ is increased, leading to increased angiogenic factors and vascularization.

Apoptosis

Apoptosis: programmed cell death.
Intrinsic pathway: monitors for abnormal physiology (cellular stress) and triggers apoptosis.
Extrinsic pathway: relatively dormant until the death receptor is activated.
In cancer, p53 suppression messes up the intrinsic pathway for apoptosis.

Cancer Treatments

Surgery: allows for tissue diagnosis and staging, often definitive treatment for localized cancers.
Radiation therapy: used to kill cancer cells, produces slow changes in most cancers.
Chemotherapy: attacks rapidly dividing cells, often given in combinations to limit toxicity.
Immunotherapy: targets unique antigens on cancer cells, aims to induce an immune response.

Tissue Pathology of Cancer

Neoplasm/Tumor: formation or presence of a new, abnormal growth of tissue.
Malignant: a tumor tending to invade normal tissue or recur after removal.
Benign: a slow-growing tumor that is non-invasive and does not metastasize.
Cancer: a malignant tumor.

Cancer Classification

Based on: tissue and organ of origin, extent of distribution (stages), microscopic appearance of the malignant tumor, and critical genetic changes in the cancer cells.
Benign tumors: usually encapsulated, well-demarcated, and do not invade beyond their capsule.
Malignant tumors: characterized by rapid cell growth, loss of differentiation, and absence of normal tissue organization.

Progression to Malignancy

Cancers develop incrementally as they accumulate genetic mutations.
Dysplasia: a premalignant condition, can range from mild to severe.
Carcinoma In Situ (CIS): preinvasive epithelial tumors of glandular or squamous cell origin.
Invasive carcinoma: histologic features of malignancy that invade past the basement membrane.### Genomics and Cancer
Genomics involves the study of germ cell mutations and somatic cell mutations, as well as the interactions between genes, environment, and viral or bacterial genes.
Cancer is driven by genetic alterations and changes in epigenetic regulation.

Types of Cancer

Sporadic Cancers: involve genetic changes in somatic cells, are the majority of cancer cases, occur at older ages (60s, 70s, 80s), and have no family history.
Hereditary Cancers: involve a strong cancer gene inherited through a germ cell line, have high risks to other family members and usually risks for other types of cancer too.
Familial Cancers: involve multiple family members with the same cancer, with an unknown cause, and share similar genes and lifestyle, environment, and exposures.

Identifying Hereditary Cancers

Family history and pedigree are used to identify hereditary cancers.
Genetic counseling and testing are also used to determine hereditary cancer risks.
"Clues" for hereditary cancers include: young ages of diagnosis, multiple family members with cancer, multiple generations with cancer, multiple cancers in the same person, and related cancers.

Family Pedigree

A family pedigree allows for a larger picture of the family's cancer history.
It helps to narrow down which gene to test for and whom to consider testing.
It also helps with test interpretation.

Interpreting a Pedigree Chart

Remember the Mendelian modes of inheritance.
Determine if the pedigree chart shows an autosomal or X-linked disease.
Determine whether the disorder is dominant or recessive.

Breast Cancer

Breast cancer is the most common cancer in women, affecting ~12% of American women who live to 85 years or older.
5-10% of breast cancer cases in the US are inherited.
BRCA1 and BRCA2 are autosomal dominant mutations that increase the risk of breast cancer.

Hereditary Breast Cancer

Women with BRCA1 or BRCA2 mutations have a 50-80% lifetime risk of developing breast cancer.
BRCA1 also increases the risk of ovarian cancer and moderate risk of colon and prostate cancer.
BRCA2 increases the risk of ovarian cancer.

BRCA1 and BRCA2

Both genes are tumor suppressor genes that code for proteins important in DNA damage repair.
Both genes "put the brakes" on DNA replication until DNA repair is completed.
With a BRCA1 or BRCA2 mutation, one of the "sets of brakes" is broken, leading to impaired DNA repair.

Colorectal Cancer

~1 in 21 Americans will develop colorectal cancer.
Family history increases the risk of colorectal cancer.
Hereditary syndromes that increase the risk of colorectal cancer include Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome.

Hereditary Colorectal Cancer Syndromes

Familial Adenomatous Polyposis (FAP): caused by a mutation in the APC gene, which encodes a tumor suppressor.
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome: caused by mutations in genes involved in DNA repair, with an 80% lifetime risk of colorectal cancer.

Cancer Risks and Genetic Testing

When DNA repair is affected, cancer-causing mutations can persist in cells, leading to tumor growth.

Autosomal Dominant Inheritance

Increases risk of colon cancer (80%), endometrial cancer (60%), ovarian, stomach, small intestine, biliary tract, renal, and skin cancers.

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Identified using Bethesda and Amsterdam Criteria.

Genetic Testing for Cancer Risk

Predictive Genetic Testing looks for inherited gene mutations that increase the risk of certain cancers.
Suggested for:
- Individuals with a strong family history of certain cancers.
- Those already diagnosed with cancer.
- Family members of individuals with an inherited gene mutation.

Genetic Counseling

A genetic counselor evaluates family history and creates a family pedigree.
Counsels patients on risk of inherited cancer and management if at high risk.

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Description

Learn about the definition, causes, and characteristics of cancer, including the hallmarks and traits that enable its progression.