What is the cause of hereditary breast cancer? Which DNA repair system is deficient?

Expert Solution

The reason for hereditary breast cancer is caused by a loss of function mutation in the BRCA (BReast CAncer: BRCA-1 and BRCA-2) gene. BRCA-I gene is present on chromosome 17, while BRCA-2 is present on chromosome 13. Both the genes are tumor suppressor caretaker genes and involved in DNA repair by recruiting ATM and Chk-2 and loss in function mutation of these genes leads to breast cancer.

The mechanism of action of the BRCA gene has been shown in the figure.

The BRCA gene recruits protein-53 (p53) that in turn recruits ATM and Chk-2 that are involved in activating enzxymes for repair of damaged DNA.

gladiator answered 2 years ago

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