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14 Cards in this Set
- Front
- Back
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What are 4 reasons to suspect a hereditary cancer?
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1. early cancer diagnosis
2. 2+ primary cancer within same person 3. multiple people in family with same/related cancers 4. physical features associated with inherited cancer |
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People with BRCA1 or 2 mutation have an increased risk of?
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- breast/ovarian cancer
- having 2nd breast cancer - men with breast/prostate cancer - pancreatic/melanoma |
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What are red flags for BRCA1/2 mutation?
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- premenopausal breast cancer
- bilateral breast cancer - personal/family history of breast/ovarian cancer - Ashkenazi Jewish ancestory - men with breast cancer |
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BRCA 1/2 mutations occur through maternal or paternal sides?
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- both
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What are the different test results for BRCA mutations and what do they mean?
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- positive: disease-associated mutation identified
- negative: no mutation identified in tested gene, could have other mutations - variant of uncertain significance: variant mutations are identified but these may be benign or deleterious |
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What are preventative strategies if a person has BRCA 1/2 mutation?
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- screening for breast/ovarian cancer (self, clinical, mammogram, breast MRI)
- prophylactic mastectomy or salpingo-oohporetomy - tamoxifen/raloxifene - oral contraceptives |
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When should/shouldn't minors be tested for inherited cancers?
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- Should not: if the cancer is typically reserved to those older than 18 (breast cancer screening usually starts at 25)
- Should: if cancer noticed under 18 (Familial Adenomatous Polyposis need to screen kids under 5 for hepatoblastoma and colonoscopy yearly at 10-12) |
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Who should be genetically tested to determine presence of mutation?
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- family member who has had cancer
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How is Familial Adenomatous Polyposis and Lynch syndrome/Hereditary Nonpolyposis colon cancer inherited?
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- autosomal dominant
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What is a person with Lynch Syndrome/Hereditary Non-polyposis colon cancer at risk for? (3 main)
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- colorectal cancer (ascending colon predominantly)
- endometrial cancer - ovarian cancer |
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If a person has a germline mutation for Lynch syndrome, where will this mutation be seen and what else do these mutations lead to?
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- mutation in 1+ of the 5 DNA mismatch repair gene
- leads to microsatellite instability |
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What is Genetic Information Nondiscrimination Act (GINA)? what does it not protect against?
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- prohibits health insurance/employers from discriminating b/c genetic information/test results
- does not protect against discrimination for life, disability, long term care insurance |
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How is Familial adenomatous polyposis different from other inherited cancers?
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- affects children: kids under 5 require annually screening for hepatoblastoma and annual colonoscopies begin at 10-12
- the risk for colon cancer is almost 100% |
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What is associated with Familial adenomatous polyposis?
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- congenital hypertrophy of retinal pigment epithelium
- hepatoblastoma - thyroid cancer - upper GI tract tumors |
