UAMS Cancer Genetics for Genetic Counselors
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| Initiation stage of Carcinogenesis | Primary event: typically caused by a genetic mutation
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| Promotion stage of Carcinogenesis | Cells have acquired a selective growth advantage
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| Progression stage of Carcinogenesis | Tumor characteristics have become irreversible. Genetic mutations continue to occur.
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| Metastasis stage of Carcinogenesis | Malignant cells must do many things to metastasize like; separate from primary tumor, enter lymphatic/circulatory system etc. pg 57.
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| Acquired Abilities of cancer cells | Dedifferentiate, gain proliferative abilities, Bypass cell cycle checkpoint, Dismantle DNA repair, Avoid Apoptosis, Undergo angiogenesis, Ability to metastasize
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| Oncogene | Originiate from normal cellular genes, causes a gain of function. (G1 and G0 stage)
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| Mechanisms that lead to Activation of Oncogene | Viral insertion, Point Mutation, Chromosome rearrangement, Gene Amplification
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| Philadelphia Chromosome | reciprocal exchange between chromosome 9 and 22
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| MYC | Gene found at breakpoint of translocation between 8 and 14, causing Burkett's lymphoma.
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| Tumor Suppressor Genes | Between the G0 (resting stage) and the S (synthesis) stage.
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| Genetic Heterogeneity | Mutations in different genes can cause the same disease.
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| 3 most common male cancers: | Prostate, Lung and Bronchus, Colon and rectum
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| 3 most common female cancers: | Breast, Lung and Bronchus, Colon and Rectum
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| 4 Highest survival rate | Testis, Thyroid, Prostate, Melanoma
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| 4 Lowest survival rate | Pancreas, Liver, Esophagus, Lung
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| Non-Hereditary Factors and Cancer Risk | Diet (alcohol), Tobacco, Radiation, Hormonal, Drugs/medicine, Viral.
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| What is the term for the cancer located on the Ectoderm? | Carcinoma
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| What is the term for the cancer located on the bone and muscle (mesoderm)? | Sarcoma
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| What is the term for the cancer located in the blood or lymphatic system? | Leukemia, lymphoma
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| What is the term for the cancer located in the lining of the internal organs? | Carcinoma
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| Clinical Staging: T | Condition of primary tumor
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| Clinical Staging: N | Extent of lymph node involvement
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| Clinical Staging: M | Presence of Metastases.
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| Adenomatous polyposis is found in what conditions: | FAP, MAP, Lynch and Turcot
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| Hamartomatous polyposis is found in what conditions: | Juvenile polyposis, Cowden, Peutz-Jeghers, Gorlin, Hereditary Mixed Polyposis
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| Ganglio/neurofibromata are found in what conditions: | NF type 1 and MEN2B
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| Lifestyle recommendations for minimizing cancer risk: | Avoid tobacco, alcohol and sun exposure. Reduce fat, protein and cholesterol. Increase fiber and carbohydrates. Avoid obesity. Minimize salt.
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| "Red Flags" of hereditary cancer. | Cancer in 2 or more close relatives, Early age at diagnosis, Multiple primary tumors, Bilateral or rare cancers, Constellation of tumors, Autosomal dominant inheritance.
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| BRCA1 carriers: Breast Cancer | 50-85% medullary, High rate of ER/PR negativity
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| BRCA1 carriers: Ovarian Cancer | 40%: Epithelial origin
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| BRCA1 carriers: Pancreatic | 2-8%
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| BRCA2 carriers: Breast Cancer | 40-85%
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| BRCA2 carriers: Male Breast Cancer | 6%
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| BRCA2 carriers: Ovarian Cancer | 10-25%: Epithelial origin
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| BRCA2 carriers: Pancreatic Cancer | 2-8%
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| Cowden syndrome vs. BRR syndrome | BRR syndrome doesn't have the cancers found in CS. BRR has freckling of the penis.
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| Characteristics of CS | Mucocutaneous lesions, FBD, Thyroid disease, Macrocephaly, GI Hamartomas, Uterine Fibroids, Uterine Cancer, Breast Cancer, Thyroid Cancer
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| Major Criteria of Cowden | Breast Carcinoma, Thyroid, Macrocephaly, Endometrial Cancer
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| Minor Criteria for Cowden | Other thyroid, MR, GI hamartomas, FBD, Lipomas, Fibromas, Genito-Urinary tumors
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| Pathognomonic criteria for Cowden | Trichilemmomas, Papillomatious papules, Mucosal lesions, Lhermitte-Duclos disease
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| Characteristics of Li-Fraumeni syndrome: | TP53. AD. Osteosarcomas, Soft tissue sarcomas, Breast cancer, Brain tumors, Adrenocorticoal tumors.
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| 4 bs of Li-Fraumeni | Breast, Brain, Bone, Bladder.
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| Characteristics of Peutz-Jeghers | STK11. AD. Colon, Breast, Pancrease, Uterine, Lung, Testicular cancer. Tree shaped tumor. Lip Freckling. Adenoma Malignum
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| Characteristics of Ataxia-Telangiectasia | ATM. AT. Progressive cerebellar ataxia, Lymphoma/leukemia, melanoma, breast, stomach, pancreas, and ovarian cancer.
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| Ashkenazi Jewish Mutations: BRCA1 | 185delAG, 5382insC
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| Ashkenazi Jewish Mutations: BRCA2 | 6174delT
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| Ashkenazi Jewish Mutation: APC | I1307K
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| Ashkenazi Jewish Mutation: Lynch | MSH2 A636P
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| Definition of Juvenile Polyposis | 3 or more colorectal juvenile polyps, Juvenile polyps throughout the GI tract. Anemia, Bleeding, other congenital anomalies.
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| Characteristics of FAP | APC. AD. Epidermoid cysts on the scalp, Duodenal cancer leading cause of death. CHRPE. 100s to 1000s of polyps. Colon/rectum, Thyroid, Bile duct, small intestine, hepatoblastoma, brain. Supernumerary teeth
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| % of De novo cases in FAP | 1/3rd
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| Characteristics of Gardner syndrome | Desmoid tumors, osteomas, supernumerary teeth, CHRPE
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| Characteristics of Turcot syndrome | APC mutation and PMS2/MLH1 mutation
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| Characteristics of AFAP syndrome | Fewer polyps (30s) diagnosed at later age 50-55.
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| Characteristics of MAP | MYH. AR. Colon/rectum and Duodenal. 0 adenomas to 1000s of adenomas. Prostate, pancreatic, renal, uterine.
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| Lynch syndrome genes | MLH1, MSH2, MSH6, PMS2
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| Characteristics of Lynch syndrome | Colorectal cancer, Uterine cancer, Ovarian, Stomach cancer.
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| Amsterdam Criteria 1 | 3 or more relatives with verified CRC in family. At least 2 successive generations. One CRC diagnosed by age 50 years. FAP excluded.
Used to determine Gene Testing
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| Amsterdam Criteria 2 | 3 or more relatives with verified Lynch associated cancer (CRC, Uterine cancer, Small bowel, ureter or renal pelvis). At least 2 successive generations. One CRC diagnosed by age 50 years. FAP excluded.
Used to determine Gene Testing
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| Bethesda Guidelines | Amsterdam criteria fulfilled. Person with 2 lynch cancers. CRC and FDR w/ Lynch cancer younger than 45 or adenoma younger than 40. CRC or endometrial cancer younger than 45. Right-sided CRC younger than 45. Signet-ring CRC < 45. Adenomas <40.
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| Why is MLH1 tricky? | MLH1 may either have a mutation or be hyper-methylated.
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| Extra-colonic cancers are seen higher in Lynch syndrome for what mutation? | MSH2
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| Endometrial cancer is present more often in which mutation in Lynch? | MSH6
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| Which Lynch mutations are most common | MLH1 and MSH2
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| Cancer seen in BRCA2 families other than breast and ovary | Larynx, esophagus, stomach, gall bladder, bile duct and melanoma
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| Carrier frequency of BRCA mutations in the general population | 1/500 to 1/800
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| Reason genetic testing for Li Fraumeni is controversial | Lack of established protocols for risk reduction
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| Numbers of polyps in MYH polyposis | few to thousands
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| Where in the gene would you find mutations causing attenuated FAP | 3' and 5' ends and exon 9
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| Recessive disorder in which heterozygote carriers have an increased risk for breast cancer | Ataxia telangectasia
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| Types of polyps we studied | Adenoma, hamartoma, hyperplastic
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