P53 - information needed

If you do a search of p53 or tp53 here at bco.org, there are a lot of posts. I understood it when I researched but now I have forgotten. I wasn't tested for anything so it's a gamble for me. I think maybe it has to do with recurrence when getting radiation..... I'm sure you'll find your answers - just do the search. On the left in the blue section above help. Let me know what you find!!

Hi mccathyg,

I'm not a scientist but I am someone with Li-fraumeni syndrome. I'll explain in laymen's terms what I understand about tp53, and I hope this helps clarify things.

There is a germline tp53 mutation. Germline means that it's inherited (in approximately 80% of people who have it) and that it occurs in all cells. This mutation is associated with Li-Fraumeni syndrome, and those who have the mutation are at high risks for all cancers. They also have a 50-50 chance of passing this mutation on to their offspring.

Additionally, for those of us with Li-Fraumeni, radiation for cancer treatment is avoided unless it's absolutely necessary since it can lead to a different cancer within the radiation field.

What can make things confusing is that many tumors have a tp53 mutation, but there's with no relationship to Li-Fraumeni.

TP53 mutations that happen within a tumor are called somatic and only occur within the tumor. Since the tp53 gene has a role in protecting cells from becoming cancerous, when cancer does develop it is because where the tumor has developed the tp53 genes have been damaged or turned off.

Thus, for these somatic mutations, there's no risk of passing this mutation onto future generations.

The distinction made is between (a) a person who carries a germ-line mutation in a gene such that the mutation is found in all cells of their body, both somatic and germ-line, and is thus heritable, versus (b) a person who does not carry a germ-line mutation in their normal cells (somatic and germ-line cells all initially mutation-free), but at some point in life through somatic cell mutation has developed a mutation in the same gene in a breast cell, which later formed a tumor, but the mutation Is only found in their tumor cells (and hence is not heritable).

If you were diagnosed with a heritable syndrome and have a known pathogenic mutation as determined by genetic testing of your normal cells (e.g., blood sample), the inference is that all of your cells contain the mutation, including germ cells (sperm or egg), and so it would be expected to be heritable and could be passed on to offspring.

Please confirm with your providers.

BarredOwl

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