UAMS Cancer Genetics for Genetic Counselors
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| Initiation stage of Carcinogenesis | Primary event: typically caused by a genetic mutation | ||||
| Promotion stage of Carcinogenesis | Cells have acquired a selective growth advantage | ||||
| Progression stage of Carcinogenesis | Tumor characteristics have become irreversible. Genetic mutations continue to occur. | ||||
| Metastasis stage of Carcinogenesis | Malignant cells must do many things to metastasize like; separate from primary tumor, enter lymphatic/circulatory system etc. pg 57. | ||||
| Acquired Abilities of cancer cells | Dedifferentiate, gain proliferative abilities, Bypass cell cycle checkpoint, Dismantle DNA repair, Avoid Apoptosis, Undergo angiogenesis, Ability to metastasize | ||||
| Oncogene | Originiate from normal cellular genes, causes a gain of function. (G1 and G0 stage) | ||||
| Mechanisms that lead to Activation of Oncogene | Viral insertion, Point Mutation, Chromosome rearrangement, Gene Amplification | ||||
| Philadelphia Chromosome | reciprocal exchange between chromosome 9 and 22 | ||||
| MYC | Gene found at breakpoint of translocation between 8 and 14, causing Burkett's lymphoma. | ||||
| Tumor Suppressor Genes | Between the G0 (resting stage) and the S (synthesis) stage. | ||||
| Genetic Heterogeneity | Mutations in different genes can cause the same disease. | ||||
| 3 most common male cancers: | Prostate, Lung and Bronchus, Colon and rectum | ||||
| 3 most common female cancers: | Breast, Lung and Bronchus, Colon and Rectum | ||||
| 4 Highest survival rate | Testis, Thyroid, Prostate, Melanoma | ||||
| 4 Lowest survival rate | Pancreas, Liver, Esophagus, Lung | ||||
| Non-Hereditary Factors and Cancer Risk | Diet (alcohol), Tobacco, Radiation, Hormonal, Drugs/medicine, Viral. | ||||
| What is the term for the cancer located on the Ectoderm? | Carcinoma | ||||
| What is the term for the cancer located on the bone and muscle (mesoderm)? | Sarcoma | ||||
| What is the term for the cancer located in the blood or lymphatic system? | Leukemia, lymphoma | ||||
| What is the term for the cancer located in the lining of the internal organs? | Carcinoma | ||||
| Clinical Staging: T | Condition of primary tumor | ||||
| Clinical Staging: N | Extent of lymph node involvement | ||||
| Clinical Staging: M | Presence of Metastases. | ||||
| Adenomatous polyposis is found in what conditions: | FAP, MAP, Lynch and Turcot | ||||
| Hamartomatous polyposis is found in what conditions: | Juvenile polyposis, Cowden, Peutz-Jeghers, Gorlin, Hereditary Mixed Polyposis | ||||
| Ganglio/neurofibromata are found in what conditions: | NF type 1 and MEN2B | ||||
| 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. | ||||
| "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. | ||||
| BRCA1 carriers: Breast Cancer | 50-85% medullary, High rate of ER/PR negativity | ||||
| BRCA1 carriers: Ovarian Cancer | 40%: Epithelial origin | ||||
| BRCA1 carriers: Pancreatic | 2-8% | ||||
| BRCA2 carriers: Breast Cancer | 40-85% | ||||
| BRCA2 carriers: Male Breast Cancer | 6% | ||||
| BRCA2 carriers: Ovarian Cancer | 10-25%: Epithelial origin | ||||
| BRCA2 carriers: Pancreatic Cancer | 2-8% | ||||
| Cowden syndrome vs. BRR syndrome | BRR syndrome doesn't have the cancers found in CS. BRR has freckling of the penis. | ||||
| Characteristics of CS | Mucocutaneous lesions, FBD, Thyroid disease, Macrocephaly, GI Hamartomas, Uterine Fibroids, Uterine Cancer, Breast Cancer, Thyroid Cancer | ||||
| Major Criteria of Cowden | Breast Carcinoma, Thyroid, Macrocephaly, Endometrial Cancer | ||||
| Minor Criteria for Cowden | Other thyroid, MR, GI hamartomas, FBD, Lipomas, Fibromas, Genito-Urinary tumors | ||||
| Pathognomonic criteria for Cowden | Trichilemmomas, Papillomatious papules, Mucosal lesions, Lhermitte-Duclos disease | ||||
| Characteristics of Li-Fraumeni syndrome: | TP53. AD. Osteosarcomas, Soft tissue sarcomas, Breast cancer, Brain tumors, Adrenocorticoal tumors. | ||||
| 4 bs of Li-Fraumeni | Breast, Brain, Bone, Bladder. | ||||
| Characteristics of Peutz-Jeghers | STK11. AD. Colon, Breast, Pancrease, Uterine, Lung, Testicular cancer. Tree shaped tumor. Lip Freckling. Adenoma Malignum | ||||
| Characteristics of Ataxia-Telangiectasia | ATM. AT. Progressive cerebellar ataxia, Lymphoma/leukemia, melanoma, breast, stomach, pancreas, and ovarian cancer. | ||||
| Ashkenazi Jewish Mutations: BRCA1 | 185delAG, 5382insC | ||||
| Ashkenazi Jewish Mutations: BRCA2 | 6174delT | ||||
| Ashkenazi Jewish Mutation: APC | I1307K | ||||
| Ashkenazi Jewish Mutation: Lynch | MSH2 A636P | ||||
| Definition of Juvenile Polyposis | 3 or more colorectal juvenile polyps, Juvenile polyps throughout the GI tract. Anemia, Bleeding, other congenital anomalies. | ||||
| 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 | ||||
| % of De novo cases in FAP | 1/3rd | ||||
| Characteristics of Gardner syndrome | Desmoid tumors, osteomas, supernumerary teeth, CHRPE | ||||
| Characteristics of Turcot syndrome | APC mutation and PMS2/MLH1 mutation | ||||
| Characteristics of AFAP syndrome | Fewer polyps (30s) diagnosed at later age 50-55. | ||||
| Characteristics of MAP | MYH. AR. Colon/rectum and Duodenal. 0 adenomas to 1000s of adenomas. Prostate, pancreatic, renal, uterine. | ||||
| Lynch syndrome genes | MLH1, MSH2, MSH6, PMS2 | ||||
| Characteristics of Lynch syndrome | Colorectal cancer, Uterine cancer, Ovarian, Stomach cancer. | ||||
| 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 | ||||
| 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 | ||||
| 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. | ||||
| Why is MLH1 tricky? | MLH1 may either have a mutation or be hyper-methylated. | ||||
| Extra-colonic cancers are seen higher in Lynch syndrome for what mutation? | MSH2 | ||||
| Endometrial cancer is present more often in which mutation in Lynch? | MSH6 | ||||
| Which Lynch mutations are most common | MLH1 and MSH2 | ||||
| Cancer seen in BRCA2 families other than breast and ovary | Larynx, esophagus, stomach, gall bladder, bile duct and melanoma | ||||
| Carrier frequency of BRCA mutations in the general population | 1/500 to 1/800 | ||||
| Reason genetic testing for Li Fraumeni is controversial | Lack of established protocols for risk reduction | ||||
| Numbers of polyps in MYH polyposis | few to thousands | ||||
| Where in the gene would you find mutations causing attenuated FAP | 3' and 5' ends and exon 9 | ||||
| Recessive disorder in which heterozygote carriers have an increased risk for breast cancer | Ataxia telangectasia | ||||
| Types of polyps we studied | Adenoma, hamartoma, hyperplastic |
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Created by:
Ben Kosewski
on 2010-10-10