4 - Cancer in families and individuals Flashcards
1
Q
In inherited cancer syndromes, why is the risk of cancer not 100%?
NOTE: the risk is very high
A
two hit hypothesis - the patient will inherit hit 1, but they would require a mutation in the second allele to cause any phenotypic changes
2
Q
What is cryogenic analysis?
A
the observation of the morphology and number of chromosomes in metaphase
3
Q
Give an examples of a cancer with a translocation?
A
chronic myeloid leukaemia
4
Q
What is the main clinical characteristic of CML?
A
over production of granulocytes (neutrophils and monocytes)
5
Q
What is the new fusion gene that is produced in CML?
What is the name of the new chromosome 22?
A
BCR-ABL1
Philadelphia chromosome
