Li Fraumeni syndrome is associated with a loss of function mutation in p53 (FA2020 p224, p46)
p53 is a modulator at the G1/S restriction point. p53 activation in the presence of DNA damage, misfolded protein, and hypoxia leads to activation of BAK/BAX and subsequent activation of the apoptotic pathway (p208). Thus, loss of function of p53 will lead to impaired regulation of apoptosis and uninhibited cell division in cancer cells.
Li Fraumeni syndrome is associated with multiple tumors at a young age (SBLA - sarcoma, breast, leukemia, adrenal)
submitted by โcassdawg(1781)
Li Fraumeni syndrome is associated with a loss of function mutation in p53 (FA2020 p224, p46)
p53 is a modulator at the G1/S restriction point. p53 activation in the presence of DNA damage, misfolded protein, and hypoxia leads to activation of BAK/BAX and subsequent activation of the apoptotic pathway (p208). Thus, loss of function of p53 will lead to impaired regulation of apoptosis and uninhibited cell division in cancer cells.
Li Fraumeni syndrome is associated with multiple tumors at a young age (SBLA - sarcoma, breast, leukemia, adrenal)