P53 - information needed

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mccathyg
mccathyg Member Posts: 38
edited January 2017 in Genetic Testing

Hi just going through initial treatment for third recurrence. Received the path report following removal of chest wall tumour and noted a result of 60% +++ positive for P53 staining. I have checked my previous path reports and haven't seen this mentioned before. I have done some research on internet and it seems this could be genetic mutation and associated with recurrence. Can anyone give me some lay person information. I have also seen that it has poor prognosis and may restrict access to further treatment??

Thanks

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  • marijen
    marijen Member Posts: 3,731
    edited January 2016

    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!!

  • mccathyg
    mccathyg Member Posts: 38
    edited January 2016

    Thanks Marijen. Have searched on here and done some more research on internet. Very complicated. I managed to find an association which has lots of useful info http://www.lfsassociation.org/ which is based in the US.

    I am going to follow this up with my oncologist in the UK. If there is anyone based in the UK who has any experience of this mutation I would be interested to hear from them.....

  • elabee
    elabee Member Posts: 20
    edited March 2016

    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.

  • Tracy15
    Tracy15 Member Posts: 14
    edited March 2016

    I too have Li-Fraumeni (CHEK2/TP53 gene mutations) and so does my daughter and my sister and her son.

    Just curious where you got this information or if I am misinterpreting it wrong.

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

  • BarredOwl
    BarredOwl Member Posts: 2,433
    edited March 2016

    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


  • mellee
    mellee Member Posts: 434
    edited December 2016

    Wondering about P53 myself. My tumor wasn't tested for this (I did receive genetic testing and do not have the TP53 genetic mutation). I understand that overexpression of P53 is a negative prognostic factor and can up your risk:

    Distinguishing Low-Risk Luminal A Breast Cancer Subtypes with Ki-67 and p53 Is More Predictive of Long-Term Survival https://www.ncbi.nlm.nih.gov/pmc/articles/PMC45246...

    Should I ask for P53 testing? Anyone else had this done?

  • TectonicShift
    TectonicShift Member Posts: 752
    edited July 2020
  • stephilosphy00
    stephilosphy00 Member Posts: 386
    edited December 2016

    Looks like mine is also a low risk Luminal A tumor , they tested p53 at biopsy and it was negative (1.7%).

  • TectonicShift
    TectonicShift Member Posts: 752
    edited July 2020

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