While brainscape is broken Ill put cards in here till later

Question 1

When to consider FAP genetic testing

Answer 1

• Known family history of FAP
• 10 adenomas under 30yrs
• 20 lifetime adendomas
• Desmoid tumours

Question 2

Diagnosis of Lynch (clinical) and when to consider genetic testing

Answer 2

Revised Amsterdam Criteria (clinical diagnosis):
3+ HNPCC associated cancers in family (CRC, endometrial, SB, upper urinary)
2 successive generations
1 CRC needs to be under <50
0 FAP excluded

Revised Bethesda Gudelines (who should be referred for testing/staining - although this is becoming prettymuch routine)
- MSI histological features (crohns like lymphoid reaction, lymphoid aggregates, signet/medullar growth pattern)
- Extracolonic HNPCC cancers (synchronous or metachronous)
- Single 1st degree relative with CRC/endometrial Ca <50 or
- Two 1st degree relatives regardless of age
- Age <50 years

Question 3

Growth Factor Signalling Pathways - generic

Answer 3

1. Binding of a growth factor to a specific receptor
   * EGF (HER2), VEGF, Wnt
2. Transient & limited activation of the growth factor receptor (kinase and phosphatase)
   * EGFR, Frizzled
3. Activation of cytoplasmic-signal-transducing-proteins
   * RAS-RAF-MEK
   * Dishevelled inhibits destruction complex including APC
4. Transmission of the signal to the nucleus via cytoplasmic effector proteins & secondary messengers OR a cascade of signal transduction molecules
   * ERK1/2
   * b catenin
5. Induction and activation of nuclear regulatory factors that trigger DNA transcription
   * FOXa1-ER
6. Expression of factors that promote entry and progression through the cell cycle for cell division
   * c Myc
   * Cyc D
   * VEGF
7. In parallel, expression of other genes that promote cell survival and metabolic alterations needed for optimal growth