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 Genetics 1  



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  #1

Mutations in which of the following genes when inherited in the germline are least likely to be associated with the development of breast cancer?

A. ATM gene
B. bcl-2 gene
C. BRCA 1 gene
D. BRCA 2 gene
E. p53 gene




  #2

shockedshocked


  #3

raised eyebrow


  #4

b??


  #5

nodnodnod

BRCA 1 & BRCA 2 cause early breast cancer (dominant inheritance). ATM gene causes breast cancer ��" DNA repair disorder (recessive inheritance). P53 mutations are found in ~60% of all human cancer types including breast. Note Li-Frumeni syndrome ��" vulnerable to a wide range of cancers, 50% likelihood of Ca by age 30 & 90% by age 65. The precise function of p53 is unknown ��" may act as DNA policeman to prevent transcription & replication of unstable DNA.

Bcl-2 is involved in the control of apoptosis (programmed cell death) & prevents the p53 mediated destruction of cells with damaged DNA. It also may prevent the death of cells severely damaged by chemotherapy, & mediates drug resistance & contributes to neoplasia by this mechanism rather than promoting aberrant cell growth. It was first identified because of an association with follicular lymphoma.






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