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Cancer Genetics

UAMS Cancer Genetics for Genetic Counselors

QuestionAnswer
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
Created by: Ben Kosewski Ben Kosewski on 2010-10-10



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