GEN 22
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18 terms
Terms | Definitions |
|---|---|
 what are three characteristics of sporadic cancers | 1. mutations that trigger tumorigenesis that occur in somatic cells, and are thus not inherited 2. mutations are acquired over a patients lifetime 3. majority of cancers result from accumulated somatic mutations |
| what are three characteristics of inherited mutations | 1. mutation in germline cell that is inherited and gives predisposition to cancer 2. cancer always occurs in a multistep genetic process 3. inherited germline is just the first of several genetic alterations- accumulate more mutations ... earlier onset of cancer |
| what are the clinical characteristics of BRCA associated hereditary breast and ovarian cancer | breast cancer <50 y.o. bilateral breast cancer male breast cancer ovarian cancer at any age breast and ovarian cancer in same person Ashkenazi Jewish |
| what are the clinical characteristics of familial adenomatous polyposis | dominantly inherited colon cancer predisposition where (>100 ) precancerous polyps appear about age 16, with 100% colon cancer risk if colectomy is not performed increased risk for extracolonic cancers congenital hypertrophy of retinal pigment epithelium |
| what are the clinical characteristics of Lynch syndrome/ hereditary nonpolyposis colon cancer | autosomal dominant increased risk of colorectal, endometrial, and ovarian cancer MLH1- chromosome 3 MSH2- chromosome 2 most common locations of mutations 90% of Lynch syndrome tumors show microsatelite instability |
| describe the process of hereditary cancer risk assesment and testing | potential benefits as well as risks and limitations need to be discussed The person who has undergone testing has the responsibility to inform relatives of potential risks and available tests |
| what is the number one risk factor for cancer? what % of cancers are sporadic | aging is number one risk factor 70% are sporadic (only 5-10% are hereditary) |
| what percentage of breast and ovarian cancer is hereditary | 5-10% |
| what is the single most important screening tool in clinical practice for identifying high risk patients? what questions should be asked? | family history is single most important screening tool. 1. cancer in the family <50 y.o. 2. two or more primary tumors in same individual 3. multiple people in the family with same or related tumors 4. pressence of physical features associated with an inherited cancer syndrome |
| is breast cancer transmitted through males or females | can be transmitted through males as well as females |
| why do you not test minors for adult malignancies | 1. would not change medical management 2. child looses future atonomy 3. no risk for childhood malignancies |
| what is an important strategy of genetic testing that helps to identify mutation | if possible, test a family member who has had cancer so that the mutation can be identified |
| if an individual presents for BRCA testing because her mother and grandmother had early onset breast cancer, and the BRCA test is negative. what does this conclude | inconclusive because the mutation that caused breast cancer in her family maynot be in BRCA 1 or 2 |
| what are two other genes associated with increased risk of breast cacner | cowden - PTEN (large head) Li Fraumini- p53 |
| are the majority of colorectal cancers inherited or sporadic | sporadic |
| what is microsatellite mutation indicative of | mutation in mismatch repair gene |
| GINA | genitic information nondiscriminatory act |
| what is an instance where genetic testing of minors is appropriate | familial history of familial adenomatous polyposis |
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