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?

    <p>Uncontrolled cell division</p> Signup and view all the answers

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

    <p>HER2/neu</p> Signup and view all the answers

    What type of effect can increase the risk of cancer?

    <p>All of the above</p> Signup and view all the answers

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

    <p>Cell death</p> Signup and view all the answers

    What is the purpose of checkpoints in the cell cycle?

    <p>To check DNA damage</p> Signup and view all the answers

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

    <p>Herceptin</p> Signup and view all the answers

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

    <p>Production of a proliferative factor</p> Signup and view all the answers

    What is the primary characteristic of cancer?

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

    What is the role of angiogenesis in tumor progression?

    <p>It is essential for tumor growth and survival</p> Signup and view all the answers

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

    <p>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</p> Signup and view all the answers

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

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

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

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

    What is the relationship between inheritance and cancer?

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

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

    <p>Tissue Pathology</p> Signup and view all the answers

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

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

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

    <p>Loss of differentiation</p> 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?

    <p>Genomics</p> Signup and view all the answers

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

    <p>Dysplasia</p> Signup and view all the answers

    What type of cancer arises from epithelial tissues?

    <p>Carcinoma</p> Signup and view all the answers

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

    <p>Carcinoma In Situ</p> Signup and view all the answers

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

    <p>Sporadic mutation</p> 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?

    <p>Hereditary cancer</p> 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?

    <p>Genomics</p> Signup and view all the answers

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

    <p>Histology specimen</p> Signup and view all the answers

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

    <p>Normal to cancer</p> Signup and view all the answers

    What is the main challenge in treating cancer?

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

    What is the primary purpose of surgery in cancer treatment?

    <p>To obtain tissue for diagnosis and staging of disease</p> Signup and view all the answers

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

    <p>Localized cancer in areas hard to reach surgically</p> Signup and view all the answers

    What is the goal of targeted cancer therapy?

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

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

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

    What is the primary mechanism of chemotherapy agents?

    <p>Attacking rapidly dividing cells</p> Signup and view all the answers

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

    <p>To monitor antigrowth signals and block cell division</p> Signup and view all the answers

    What is the definition of a benign tumor?

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

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

    <p>To detect genomic damage and halt the cell cycle</p> Signup and view all the answers

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

    <p>One mutation in each allele</p> Signup and view all the answers

    What is the purpose of immunotherapy in cancer treatment?

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

    What is the classification of cancer based on?

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

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

    <p>Lack of contact inhibition</p> Signup and view all the answers

    What is the characteristic of malignant tumors?

    <p>Rapidly growing with hemorrhage and necrosis, locally invasive, and metastatic</p> Signup and view all the answers

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

    <p>Unregulated cell growth</p> Signup and view all the answers

    What is the main difference between benign and malignant tumors?

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

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

    <p>To target the BCR-ABL fusion protein</p> Signup and view all the answers

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

    <p>Inducing angiogenesis</p> Signup and view all the answers

    What is the characteristic of familial cancer syndromes?

    <p>Caused by inherited mutations in tumor suppressor genes</p> Signup and view all the answers

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

    <p>The formation of a BCR-ABL fusion protein</p> Signup and view all the answers

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

    <p>They control development of new vessels</p> Signup and view all the answers

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

    <p>It delivers oxygen and nutrients to the tumor</p> Signup and view all the answers

    What is the role of HIF-1α in cancer?

    <p>It increases angiogenesis</p> Signup and view all the answers

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

    <p>Increased HIF-1α and angiogenesis</p> Signup and view all the answers

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

    <p>Increased resistance to chemotherapy</p> Signup and view all the answers

    What is the function of angiogenesis inhibitors in normal tissue?

    <p>They decrease vessel growth</p> Signup and view all the answers

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

    <p>They are more permeable and prone to hemorrhage</p> Signup and view all the answers

    What is the function of apoptosis in cells?

    <p>It self-destructs cells</p> Signup and view all the answers

    What is the role of p53 in apoptosis?

    <p>It is part of the intrinsic pathway for apoptosis</p> Signup and view all the answers

    What is the use of tumor markers?

    <p>To screen and identify individuals at high risk for cancer</p> Signup and view all the answers

    What is the characteristic of familial cancers?

    <p>Multiple family members have the same cancer</p> Signup and view all the answers

    How do we determine if a cancer is hereditary?

    <p>Through family history and genetic testing</p> Signup and view all the answers

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

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

    What is the characteristics of an autosomal dominant disorder?

    <p>One of the parents must have the disorder</p> Signup and view all the answers

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

    <p>5-10%</p> Signup and view all the answers

    What is the function of the BRCA1 and BRCA2 genes?

    <p>They are involved in DNA repair</p> Signup and view all the answers

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

    <p>50-80%</p> Signup and view all the answers

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

    <p>2-3 times higher</p> Signup and view all the answers

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

    <p>It encodes a tumor suppressor</p> Signup and view all the answers

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

    <p>80%</p> Signup and view all the answers

    What is the consequence of DNA repair being affected?

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

    What is the purpose of Genetic Counseling?

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

    Who may be suggested for Predictive Genetic Testing?

    <p>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</p> Signup and view all the answers

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

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

    What criteria are used to identify patients with HNPCC mutations?

    <p>Both Bethesda and Amsterdam Criteria</p> 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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    Learn about the definition, causes, and characteristics of cancer, including the hallmarks and traits that enable its progression.

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