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Questions and Answers
What is the primary characteristic that distinguishes a malignant tumor from a benign tumor?
What is the primary characteristic that distinguishes a malignant tumor from a benign tumor?
Which of the following is a characteristic of benign tumors?
Which of the following is a characteristic of benign tumors?
What is the term used to describe the loss of differentiation in malignant tumors?
What is the term used to describe the loss of differentiation in malignant tumors?
What is the suffix used to name benign tumors?
What is the suffix used to name benign tumors?
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What is a critical factor in the classification of cancer?
What is a critical factor in the classification of cancer?
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What is a potential consequence of benign endocrine tumors?
What is a potential consequence of benign endocrine tumors?
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What is the percentage of breast cancer cases in the US that are inherited?
What is the percentage of breast cancer cases in the US that are inherited?
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What is the autosomal dominant mutation associated with hereditary breast cancer?
What is the autosomal dominant mutation associated with hereditary breast cancer?
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What is the lifetime risk of developing breast cancer for women with BRCA1 mutations?
What is the lifetime risk of developing breast cancer for women with BRCA1 mutations?
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What type of cancers are associated with the BRCA1 mutation?
What type of cancers are associated with the BRCA1 mutation?
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What is the function of the BRCA1 and BRCA2 genes?
What is the function of the BRCA1 and BRCA2 genes?
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What is the risk of colorectal cancer in people with one affected first-degree relative?
What is the risk of colorectal cancer in people with one affected first-degree relative?
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What is the name of the autosomal dominant syndrome associated with colorectal cancer?
What is the name of the autosomal dominant syndrome associated with colorectal cancer?
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What is the function of the APC gene in Familial Adenomatous Polyposis (FAP)?
What is the function of the APC gene in Familial Adenomatous Polyposis (FAP)?
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What is the lifetime risk of colorectal cancer in individuals with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)?
What is the lifetime risk of colorectal cancer in individuals with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)?
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What is the mode of inheritance of Hereditary Nonpolyposis Colorectal Cancer (HNPCC)?
What is the mode of inheritance of Hereditary Nonpolyposis Colorectal Cancer (HNPCC)?
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What type of cancer originates from epithelial tissues?
What type of cancer originates from epithelial tissues?
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What is the term for the accumulation of genetic mutations that can lead to cancer?
What is the term for the accumulation of genetic mutations that can lead to cancer?
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What is the term for a premalignant condition characterized by abnormal cell growth and atypia?
What is the term for a premalignant condition characterized by abnormal cell growth and atypia?
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What type of cancer arises from mesenchymal tissue?
What type of cancer arises from mesenchymal tissue?
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What is the term for a preinvasive epithelial tumor that has not penetrated the local basement membrane?
What is the term for a preinvasive epithelial tumor that has not penetrated the local basement membrane?
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What is the study of functions and interactions of all the genes in the genome?
What is the study of functions and interactions of all the genes in the genome?
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What type of cancer is caused by genetic changes that happen in somatic cells?
What type of cancer is caused by genetic changes that happen in somatic cells?
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What is the term for a strong cancer gene that is inherited through a germ cell line?
What is the term for a strong cancer gene that is inherited through a germ cell line?
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What is the term for multiple family members with the same cancer, but the cause is unknown?
What is the term for multiple family members with the same cancer, but the cause is unknown?
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What is the term for the study of the gene-environment-host interaction that leads to disease?
What is the term for the study of the gene-environment-host interaction that leads to disease?
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Study Notes
Tissue Pathology of Cancer
- Neoplasm/Tumor: The formation or presence of a new, abnormal growth of tissue
- Malignant: A tumor that tends to invade normal tissue or recur after removal; characterized by rapid growth, hemorrhage, necrosis, local invasiveness, and metastasis
- Benign: A slow-growing tumor that is non-invasive and does not metastasize; characterized by small size, well-demarcated borders, slow growth, non-invasiveness, and well-differentiated cells
Cancer Classification
- Based on:
- Tissue and organ of origin
- Extent of distribution (stages)
- Microscopic appearance of the malignant tumor
- Critical genetic changes in cancer cells
Benign Tumors
- Usually:
- Encapsulated
- Well demarcated
- Well-organized stroma
- Do not invade beyond their capsule
- Do not spread to regional lymph nodes
- Named for the tissues where they arise with the suffix "-oma" (e.g., leiomyoma, lipoma)
- Can still cause symptoms if very large, block blood flow, or compress normal tissue
- Benign endocrine tumors can lead to overproduction of hormones
Malignant Tumors
- Characteristics:
- Rapid cell growth rate (high mitotic activity)
- Loss of differentiation (anaplasia)
- Absence of normal tissue organization
- Increased vascularity
- Lack a capsule and can invade surrounding tissues
- Can metastasize to regional lymph nodes
- Named according to the cell type from which they originate (e.g., carcinomas, adenocarcinomas, sarcomas, lymphomas, leukemias)
Progression to Malignancy
- Cancers develop incrementally as they accumulate genetic mutations
- Careful surveillance can detect atypical cells or abnormal growth before progression to malignancy
- Dysplasia:
- A premalignant condition
- Can range from mild to severe (low grade to high grade)
- Histologic features:
- Increased cell growth
- Increased cellular atypia
- Common sites: mouth mucosa, tongue, cervix, bladder, stomach, colon, breast, skin
Carcinoma In Situ (CIS)
- Preinvasive epithelial tumors of glandular or squamous cell origin
- Localized to the epithelium and have not penetrated the local basement membrane or invaded the surrounding stroma
- Histological features:
- Altered cell growth
- Cytologic atypia
- Altered differentiation
- Common sites: cervix, skin, oral cavity, esophagus, and bronchus
- Ductal Carcinoma In Situ (DCIS): fills mammary ducts in breast, but no invasion
- Glandular CIS: stomach, endometrium, breast, large bowel
- 3 Fates:
- Remain stable for a long time
- Progress to invasion or metastasis
- Regress or disappear
Genetics and Cancer
- Genomics: The study of functions and interactions of all the genes in the genome, including their interactions with environmental factors
- Genetics: Applies to mutations that can be inherited
-
Genomics vs Genetics:
- Genetics: mutations affecting an individual's germ cell
- Genomics: includes germ cell mutations and somatic cell mutations, and interactions between genes and environment/viral/bacterial genes
- Critical Cancer Genes: Oncogenes and tumor suppressor genes regulate cell growth, division, differentiation, and death
-
Sporadic vs Hereditary Cancers:
- Sporadic: genetic changes in somatic cells, majority of cancer cases, generally occur at older ages, no family history, lower risks to other family members
- Hereditary: strong cancer gene inherited through a germ cell line, high risks to other family members, often risks for other types of cancer too
- Familial: multiple family members with the same cancer, unknown cause, moderate risk to other family members
-
Hereditary Cancer "Clues":
- Young ages of diagnosis (typically under 50)
- Multiple family members with cancer
- Multiple generations with cancer
- Multiple cancers in the same person
- Related cancers
- Bilateral cancers
- Rare cancers
- Certain ancestries (Ashkenazi Jewish)
-
Family Pedigree:
- Allows us to look at the larger picture
- Narrows down which gene to test for and whom to consider testing
- Helps with test interpretation
-
Interpreting a Pedigree Chart:
- Remember Mendellian modes of inheritance
- Determine if the pedigree chart shows an autosomal or X-linked disease
- Determine whether the disorder is dominant or recessive
Cancer Syndromes
-
Breast Cancer:
- Most common cancer in women
- 5-10% of breast cancer cases in the US are inherited
- BRCA1 and BRCA2:
- Autosomal dominant mutations
- 50-80% lifetime risk of developing breast cancer
- 20-50% lifetime risk of ovarian cancer and moderate risk of colon and prostate cancer
-
Colorectal Cancer:
- ~1 in 21 Americans will develop colorectal cancer
- Family History:
- The risk of colorectal cancer in people with one affected first-degree relative is 2-3 times higher than the general population
- Hereditary Syndromes:
- Familial Adenomatous Polyposis (FAP)
- Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)
- Hereditary Colorectal Cancer
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