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14 Cards in this Set

  • Front
  • Back
What are 4 reasons to suspect a hereditary cancer?
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
People with BRCA1 or 2 mutation have an increased risk of?
- breast/ovarian cancer
- having 2nd breast cancer
- men with breast/prostate cancer
- pancreatic/melanoma
What are red flags for BRCA1/2 mutation?
- premenopausal breast cancer
- bilateral breast cancer
- personal/family history of breast/ovarian cancer
- Ashkenazi Jewish ancestory
- men with breast cancer
BRCA 1/2 mutations occur through maternal or paternal sides?
- both
What are the different test results for BRCA mutations and what do they mean?
- 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
What are preventative strategies if a person has BRCA 1/2 mutation?
- screening for breast/ovarian cancer (self, clinical, mammogram, breast MRI)
- prophylactic mastectomy or salpingo-oohporetomy
- tamoxifen/raloxifene
- oral contraceptives
When should/shouldn't minors be tested for inherited cancers?
- 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)
Who should be genetically tested to determine presence of mutation?
- family member who has had cancer
How is Familial Adenomatous Polyposis and Lynch syndrome/Hereditary Nonpolyposis colon cancer inherited?
- autosomal dominant
What is a person with Lynch Syndrome/Hereditary Non-polyposis colon cancer at risk for? (3 main)
- colorectal cancer (ascending colon predominantly)
- endometrial cancer
- ovarian cancer
If a person has a germline mutation for Lynch syndrome, where will this mutation be seen and what else do these mutations lead to?
- mutation in 1+ of the 5 DNA mismatch repair gene
- leads to microsatellite instability
What is Genetic Information Nondiscrimination Act (GINA)? what does it not protect against?
- prohibits health insurance/employers from discriminating b/c genetic information/test results
- does not protect against discrimination for life, disability, long term care insurance
How is Familial adenomatous polyposis different from other inherited cancers?
- 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%
What is associated with Familial adenomatous polyposis?
- congenital hypertrophy of retinal pigment epithelium
- hepatoblastoma
- thyroid cancer
- upper GI tract tumors