Syndrome present with recurring tumors of different types

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Reference no: EM133843250

Question

Consider Li-Fraumeni syndrome, which occurs in patients that inherit one loss of function allele of p53: patients suffering the syndrome present with recurring tumors of different types. Surprisingly, the varieties of tumors can be diverse, affecting the brain, blood, breast, lung, colon among others. While these diverse tumors share commonalities with all cancer (uncontrolled cell division, malformed cells, etcetera), when these types of tumors occur separately different mutations typically drive tumor development in each instance (eg. wnt pathway for colon cancer, hedgehog pathway for some brain cancers). Speculate as to how the inheritance of a single loss of function p53 allele causes such a wide array of cancers? What is the role of the loss of function p53 allele in this disease? Why are none of the more common p53 mutations (in the DNA binding domain) observed in this syndrome?

Reference no: EM133843250

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