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11 Cards in this Set

  • Front
  • Back
1p/19q loss: what does it mean?
better outcomes in oligodendrogliomas
1. What are the anti-EGFR drugs for colon cancer?

2. Lung cancer?
Monoclonal antibodies (for colorectal cancer)
§ Cetuximab
§ Panitumimab
Small molecule inhibitors (for lung cancer)
§ Erlotinib
§ Gefitinib
Why check for KRAS mutations in colon cancer?
Mutations in KRAS signal resistance to cetuximab. Mutations are seen in 20% of colon cancers
Why test for EGFR mutations in lung cancer?
Even though non-mutants and mutants alike respond to therapy- some specific genotypes are both sensitive and resistant to therapy.
Why test for the V600E mutation in BRAF?
It is the most common mutation in the BRAF gene, It can be helpful in the DX of papillary thyroid cancer,
Helpful for HNPCC DX vs sporadic forms
1. Ewings sarcoma translocation and gene?
2. Alveolar rhabdomyosarcoma?
3. Synovial Sarc
4.
5.
6.
7.
1. Ewings: t(11;22). (EWS1)
2. Alveolar rhabdomyosarcoma- t(2;13) (PAX3)
3. Synovial Sarc t(X;18), SSX1
What are the oncogenic tyrosine kinases?
1.
2.
3.
4.
tyrosine kinases
1. BCR-ABL
2. HER2
3. EGFR
4. KIT
5. PDGFRA
What are the 2 variants of HNPCC related disease?

1.
2.
HNPPC variants
1. Turcot syndrome- HNPCC+glioblastoma
2. Muir-Torre Syndrome- Colon + sebaceous adenomas
MSI testing- what are the definitions of:

1. MSS?
2. MSI-L?
3.MSI-H?
MSI
1. MSS- microsatillite stable-
2. MSI-L- instability at 1 locus
3.MSI-H- instability >1 locus
Why test BRAF for mutations in suspected HNPCC cases?
Mutations found in 40% of sporadic cases, not in HNPCC/Lynch.
FAP
1. What percent of FAP cases are sporadic?
2. What are the 2 syndromes associated with FAP?
3. How do you test?
1.25%
2. Turcot syndrome (medulloblastoma), Gardner's syndrome (FAP + osteomas, epidermoid cyst, desmoid tumors)
3. Direct sequencing of APC