DNA testing

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  • October 10, 2014 at 8:17 pm #85018
    supermum
    Member

    John we had 4 mutations noted but we didn’t haven’t KRAS, I know that’s a common one though.

    Kirsty x

    October 10, 2014 at 2:19 pm #85017
    jetcm
    Member

    Thank you Kirsty X

    This is John (JETCM) again…

    My wife’s study showed 2 mutations CTNNB1 and KRAS.

    May I ask if the DNA testing your husband had done showed JUST CTNNB1
    or was combined with another mutation? such as KRAS?

    It seems that if there are MORE than one mutation that it is hard to determine
    which mutation is driving the cancer process.

    Thank you again and many best wishes and hope for your husband..

    John

    October 5, 2014 at 7:07 pm #85016
    supermum
    Member

    Hi guys!

    John I am happy to share the info I have on CTNNB1, it came to us via foundation one so I will share with you the bits I have. We have yet to discuss using any of this information either.

    It seems that the inhibition of CTNNB1 is still in early clinical trials but it would seem that this mutation remains dependant on upstream Wnt receptors and Luganda therefore this mutation may confer sensitivity to therapies targeting Wnt Luganda and receptors.

    Potential clinical trials

    A phase 1a/1b clinical trial of PRI-724 targeting Beta Catin (CTNNB1 encodes Beta Catin) locations are Arizona, California,Florida, Minnesota
    NCT ID 01302405

    A Phase 1 open label Dose escalation study of Oral LGK974 in patients with malignancies dependant on Wnt Ligands locations are Maryland,Massachusetts, Michigan,Texas.
    NCT ID 01351103.

    That’s all I have John but I hope that these may help, I am so sorry to hear of your wife.

    Lots of love
    Kirsty x

    October 5, 2014 at 2:31 am #85015
    jetcm
    Member

    Dear Supermum,

    Yes, thank you, I would very much like to have information and trails for CTNNB1.
    How can I get them?
    Very, very glad your husband is better and ready to move to Day 8.
    I am also glad to know the incidence of the mutation as 2% as I could not find it anywhere.
    The report from Guardant Health lists a few clinical trials for CTNNB1 but I have not had a chance to
    look at them yet.
    Best regards,
    Jetcm (John)

    October 4, 2014 at 9:46 pm #85014
    supermum
    Member

    Evening All from a very cold England tonight!

    John my husbands Foundation one showed CTNNB1 mutation too! It’s found in only 2% of Bile duct adenocarcinomas.

    I have have 2 relevant trails if you need them.

    My husband has recovered really well from last weeks infection and we are back on track for day 8 treatment on Tuesday.

    Lots of love
    K xx

    October 4, 2014 at 7:38 pm #85013
    gavin
    Moderator

    Thanks for that John, much appreciated. I hope that everything goes well for your wife and please let us know how everything goes.

    My best to you both,

    Gavin

    October 4, 2014 at 7:12 pm #85012
    lainy
    Spectator

    Dear John, thank you for that valuable information and your recommendation. Hoping for your wife to continue to do well and please keep us informed of her progress!

    October 4, 2014 at 6:55 pm #10620
    jetcm
    Member

    After trying to discover the mutations of the ICC and not enough tissue on two liver biopsies, my wife finally found what the mutations are through the DNA blood test done through Guardant Health in California.

    The two important mutations found are KRAS and CTNNB1. The report also tells the oncologist what drugs are approved already for these mutations AND what clinical studies are available “out there”.

    She continues on FOLFOX for now but if and when this doesn’t work any more she knows what is available next.

    We strongly recommend doing this test

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