Inherited t790m mutation - 1245323

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jimmieruth
Inherited t790m mutation - 1245323

Since my first post in June, I have completed gene testing at Vanderbilt and have been verified to have a germline t790m mutation. This mutation is thought to be rare and not yet identified in many people. I Am looking for other lung cancer patients who may also have this inherited mutation. Inherited, not acquired from treatment. Thank you.

Dr West
Reply To: Inherited t790m mutation

I have heard that there are a few people identified out there in the world who share your situation. I don't think we have a good sense just yet how uncommon to rare or extremely rare it really is. I hope to learn more over time.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education

jimmieruth
Reply To: Inherited t790m mutation

Dr. West: thank you for your response. My personal guess is that the t790m mutation may be less rare when additional identifications and discoveries are made. But the good thing is that gene testing is fast making inroads toward some of cancers mysteries, and hopefully toward cancer cures. In view of my family cancer history, I have long held a personal belief that my family had, or has, a propensity to cancer. Inherited, environmental, or more likely a combination of both. Our gene pool is the same and for at least a portion of our lives, our environment was similar. My sisters have preceded me in death by cancer, so unfortunately they can't be tested, but in what I hope is a step forward for our next generation, our children will be tested. So, if there is a happy side to having cancer, it is being involved in what may be a part of cutting edge cancer discoveries. I am very lucky that Dr. Carbone, of Vanderbilt, was interested in t790m mutations when our paths crossed. I think your web site also holds the potential for further discoveries as doctors and patients share thoughts, feelings, procedures, tests, clinical trials,, and discoveries at your Internet accessible format. Thank you for this contribution. I will be watching this site for further t790m information, as more becomes available.

certain spring
Reply To: Inherited t790m mutation

jimmieruth, I am very sorry to hear about your sisters.
As to the inherited T790 mutation, I thought it might be useful to link to your earlier thread:
http://cancergrace.org/lung/topic/egfr-t790m-mutation-lung-cancer-diagno...
But I also wanted to mention something which you may not have seen, and which might make it feel less lonely out there. In 2005 some US pathologists reported a case where several members of the same family had the BAC subtype of NSCLC, and also the T790M mutation in their germline. (Bell et al, "Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR", in Nature Genetics 2005, 37: 1315-1316). The article is subscription-only, but the same research is mentioned here (in the "Case Report" section):
http://www.jthoracdis.com/article/view/64/html_41
I hope you get excellent care from an oncologist such as Dr Carbone, and that - as you say - your situation will help others to avoid cancer or have it diagnosed earlier. Best wishes.

cosmo72
Reply To: Inherited t790m mutation

This also may be of interest

http://tinyurl.com/d3b7bb9

certain spring
Reply To: Inherited t790m mutation

Oh that's fantastic (the Dana Farber T790M research). Hope JimmieRuth sees it.
And Cosmo72, hope you're doing OK with the Tarceva.

jimmieruth
Reply To: Inherited t790m mutation

To Cosmo 72 and Certain Spring. Thank you for your input. I hope you are dong well with your treatments.
I am in contact with Harvard re the Dana-Farber research into the t790m mutation. One of my tumors also has an L858R mutation. Should be interesting. They expect to be up and running in several months and we will be in touch. I hope that my case can provide a contribution. Dr. Carbone is part of this collaboration. They expect to be able to do gene testing by mail and counseling by phone. A giant step forward in cancer research.which should open a lot of doors to a broader range of doctors and patients.
In the meantime, I am still on Letrozol for breast cancer. No doubt, Letrozol has saved my life, which, by the way, i located on the internet in 2001. I am lucky in that I feel good and still have good air supply in spite of the fact that my lungs are quite full of cancer, and have been, since 2001 when I was told that I had one year to live. Doctors dont know what to make of me. I think my almost daily dog walks are a great help. My dog and cats make me smile, and I think Happy is the best medicine.
Take care. Be pro-active! Every day, do something that makes you Happy, even if it is just having cookies and milk! Keep in touch. I am always looking for answers and treatments.

certain spring
Reply To: Inherited t790m mutation

Good philosophy. I long for a cat to keep me company.
Very glad you are in touch with all the right people. I hope you continue to confound your doctors!

jimmieruth
Reply To: Inherited t790m mutation

Certain Spring. Cats are great! Independent, smart, and resilient just like us! I have three rescue cats. One was pitched out on the street when a kitten and in looking for food, came upon an outside dog with a food bowl. When I first saw her, she was screaming bloody murder at that dog bowl. How could I not bring her home? She tends to think she is a dog, turning on her back for a tummy rub. My daughter did a double take when Izzy rolled over. She wasnt about to give izzy a tummy rub and lose a hand to cat claws, until I told her, she thinks she's a dog. Loves tummy rubs. And Bitty Bob, my first, born with a half tail. Unwanted. Tiny. Vet didnt think he'd live. Bottle fed him. He slept on my chest. Now, he's a big black 18 pounder that still likes to crawl up on my chest. How can I not smile? I hope you can get a rescue cat. They are so grateful. Just like us.

jimmieruth
Reply To: Inherited t790m mutation

Update on t790m mutation. Online with the discovery that I have this inherited gene mutation, my daughter has now been tested at Stanford, and it is determined that she, too, has inherited this mutation. Am now making arrangements to have sons undergo genetic counseling and the test. My daughter will now undergo CT screening, and hopefully she will be lung cancer free, and will continue monitoring. I am presently in a holding situation and will be receiving another CT to check status of more troublesome tumor. Am told a new drug is in the works that may be of benefit to me. Hope so. In the meantime I stool feel pretty good.

certain spring
Reply To: Inherited t790m mutation

Very glad to hear that you are feeling well. And that your children can use this knowledge to watch their health (hopefully without worrying too much).
PS - We might be moving to a new place with improved cat potential!

sherrys
Reply To: Inherited t790m mutation

Jimmieruth, I recently had the great pleasure of touring Vanderbilt's research lab and meeting some of the scientists. It struck me how young they were and what a passion they have! Most had a back story of someone they loved having cancer. They were amazing. They have inspired my family to start a foundation to help with research dollars and patient education (GRACE!). We are excited to get started and hope that our work will help more and more people like you.

Dr West
Reply To: Inherited t790m mutation

Jimmieruth,

There is certainly a lot of interest in this research, and I do hope and expect that it can help you, your family, and other people in the future. It's humbling to come to recognize the extent of what we don't know, but that's the first step in closing that gap.

Thanks for keeping us posted, and good luck.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education

fitnesscare
Reply To: Inherited t790m mutation

Dual diagnosis NTS alcohol and drug addiction treatment programs include Primary Inpatient Care, Extended Care, Transitional Living and Outpatient Treatment.

calliem3
Reply To: Inherited t790m mutation

Jimmieruth
I posted a ? Here and someone directed me to your post. My dads mutation report came back and he was egfr + T790m and another. Not acquired as he is newly diagnosed and has received no tx. We have another appt at Vanderbilt Friday to discuss options and what this means for me and my sister. My dad is an only child 60. His dad died of lung cancer age 82. As did 2 of his dads brothers. Hoping to hear from u on how u have been treated and the outcome of ur children thus far. I have felt so alone in this diagnosis trying to help him. Thank u in advance.
Callie.

jimmieruth
Reply To: Inherited t790m mutation

Hi, again. I've been out of the loop for awhile. Calliem3, so sorry to here of your dads diagnosis. I am sure that you have been advised to have the gene tests completed, as with your family history, you certainly sound like a candidate. My gene test was done at Vanderbilt, and it was determined that I carry the T790M gene mutation. My daughter was subsequently tested at Stanford. She has the gene and then a baseline low-level CT was done. The CT turned out not to be baseline, but instead indicated she had lung nodules. She is 50. On January 4 she underwent surgery to remove the larger od the tumors. The subsequent biopsy indicates that the removed tumor was pre-cancerous. She will continue to have periodic CTs to monitor her remaining nodules, which at this time are too small to treat. So some good has come from my diagnosis in that her early detection has probably saved her life. I see this as the future of at least some lung cancers. I have recently completed a round of radiation therapy on my more problematic tumor. Do not yet have results. Hope it helped. My daughter, and I, have joined the Registry now being formed by Harvard and Dana-Farber to further research the T790M mutation. I do not know if the Registry is limited to just this mutation. Your family certainly seems to be candidates to join the Registry. (see contact information above). My son is presently out of the country, however upon his return, he will be in contact with Dana-Farber, and they will handle his gene testing and counseling by mail. Sadly, my son John, died October 21st, suddenly of what was determined to be a massive heart attack. He had been feeling bad for several days with what seemed to be a really bad cold, and then he just collapsed and died. He suffered from Paranoid Schitzophrenia and had a very difficult life. There again, a possible inherited gene from his dads mother. Good luck.

certain spring
Reply To: Inherited t790m mutation

jimmieruth, it is good to hear from you again. But what a time you have had. I am so sorry for the loss of your son. What a shock to you and to the whole family.
And yet at the same time what a marvellous outcome it is that you have been able to help your daughter in this way, and help advance the state of our knowledge.
I hope the radiation helps you, and I wish you strength to cope with what must be a very difficult and emotionally turbulent time.

Dr West
Reply To: Inherited t790m mutation

I also wanted to say how sorry I am to hear of your son's death. I'm glad that your participation in this research is improving our understanding while also helping your family.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education

calliem3
Reply To: Inherited t790m mutation

JimmieRuth,
Thanks so much for telling your valuable experience. And let me first say, I'm sorry about the loss of your son as well as your sisters. It seems as though we have very intresting family mutations. My dad got his mutation results back and he has the same as you, EGFR+ with T790m and L858R. He is 60 and an only child, so not sure about germline yet. He is being treated at Vanderbilt and has genetic testing scheduled for Feb. 12. His onc started him on Tarceva 150 mg, to see if it might work before any chemo as he feels so GREAT right now, its a fluke we even discovered it in Dec. 2012, but we did and was Stage IV. I think this diagnosis has ran deeper then I ever thought imaginable, as you have learned with your own daughter. I agree with you that your diag and testing has probably saved her life, I see it that way with my dad, however, he does not. (as far as possible passing on something to me, sister, or my kids, he feels guilty at the possibility). I'm 35, but like you, I knew that cancer must some how be linked to our family, at least on my dads side, but those deaths were long before treatment and testing so too difficult to learn about generations at this point, but not to late for moving forward, which we intend to do. I don't mean to pry but I would be very appreciative if you could tell me what your treatment plans have been seeing as you and my dad are "unique" as his onc put it. I feel differently now, having researched endlessly on the computer since the diagnosis. I too spoke with Dr. Oxnard at Dana Farber, and will be in touch with him again after genetic testing is completed. Did you visit him? Are you still at Vanderbilt? Sorry for all the questions, I just feel so relieved to have found you, it's lonely out there searching for answers. Again thank you for your reply and my prayers run deep for you entire family during this journey.

Sincerely Callie

jimmieruth
Reply To: Inherited t790m mutation

Thank you all for kind words. It has been a difficult time and your words are comforting.

Callie. I live in Huntsville, Al. So when my tumors were deemed large enough to test and the mutations showed up when the biopsy was done, it was unknown just what that meant. My local oncologist wanted to start me on chemo, I thought it a good idea to get a 2nd opinion before doing so. He called Dr. David Carbone at Vanderbilt and it just so happened that Dr. Carbone was very interested in my mutation. I saw him two days later, and he felt that I possibly had a germ line mutation. After the required counseling was done, testing was completed, another biopsy undertaken at Vanderbilt. It was determined that chemo would not help me. As it is known that this mutation is resistant to the currently available drug cocktails. Dr. Carbone had me consult with the radiologist at Vanderbilt. It was recommended that I have radiation therapy on my more troublesome tumor pressing on my windpipe. It was determined this could be done in Huntsville. Dr. Carbone has relocated to Ohio State but I, and my daughter, are in contact with him. Dr. Carbone is also involved in the Dana-Farber research. Presently, trials for new drug combinations for the t790m mutation are taking place. I elected to try the radiation for now. My next doctor appt is Feb 12 and guess I'll find out if the CT shows any improvement from radiation. I know how lonely you feel. I was reaching out when I contacted this site in the hope that there would be someone I could connect with. I was faced with a lot of nay-Sayers (including doctors) when I spoke of inherited mutation. I feel very lucky that I connected with Dr. Carbone. It is still unknown whether, or not, I also have breast cancer in my lungs, for which I have been treating with Letrozole since 2001, when I was diagnosed as Stage IV breast .cancer to my lungs. I now feel lucky to have connected with you. Where do you live?

calliem3
Reply To: Inherited t790m mutation

JimmieRuth,
Thank you again for replying. My dad and I live in Knoxville, Tn. so Vanderbilt is only about 3 hrs. for us. We too, went for a second opinion instead of starting chemo from the start. I am uncertain about the Tarceva, think its just a start even though i've read this doesnt usually work for his type. His primary lung nodule is/was 1.7 cm the first week of december when it was discovered. Radiation has not been offered I assume because it is not troublesome at the moment. The one met, in his rib is about 1.3 cm and also does not bother him as of yet. I'm a bit confused as to why chemo will be of no help for the mutations, is it known to just not work? Also I wonder if these mutations are slow to progress. I haven't really spoke with anyone knowledgable about it, as like you said Dr. Carbone is gone. His current onc at Vanderbilt just hasn't offered much options for treatment because of the "rare occurence" I'm not sure what steps to take as far as getting him to someone else who is used to treating someone with it. Such as Carbone or Oxnard. His genetic testing is next week, I'm trying to see what lung cancer patients are doing who develop T790m later vs. first. Chemo, pills, radiation, etc. I have read about a few clinical trials to target the mutation, is that the treatment you were refering to ??? Also I hope your CT scan is promising and we both continue to learn more about the options for you, my dad, your daughter, and possibly me. I assure you this, i'm searching every day and praying for new treatment so we can stop this cycle of cancer that has taken too many of our beloved family members already. I really want to keep in touch with you. I dont know all the rules of this website, so I hope its okay that I leave my email so we can speak more directly,
Callierdh@aol.com please email when you are able so I may have yours as well. Take care JimmieRuth and will talk soon.
Sincerely,
Callie.

laya d.
Reply To: Inherited t790m mutation

jimmieruth:

I just wanted to pop in to say that I'm very sorry to read about your Son's untimely death. I wish you and the rest of his loved ones peace.

Laya

jimmieruth
Reply To: Inherited t790m mutation

Lay a,. Thank you for your kind words. I am sorry that you are going through the loss of a loved one, also. John was 51, and his death was totally unexpected. But no matter when, or why, it is not easy. I, too, am heartbroken. Thank you.

jimmieruth
Reply To: Inherited t790m mutation

Cal lie, I have responded to your e-mail. I think Grace only wants to protect our privacy. I don't believe they would object to voluntary commucations. We can also continue to update our information here in an effort to reach others. As I've said before, this site allows us to reach out to cancer patients, caregivers, and medical persons in an effort to gain knowledge and perhaps make progress in each of our situations. I really appreciate ithat it is available to us. return to the doctor February 12 and hope to find out the CT results.

catdander
Reply To: Inherited t790m mutation

Callie, jimmieruth is right we love that you two have found each here and it's fine to leave your email. However to keep bots that troll sites for things like email addresses from possibly using your email, a lot of people disguise them with spaces and writing at instead of @ to confuse them. Also you could just edit the address out if you and jimmieruth have finished making initial contact. That's up to you.

Also y'all (I'm in Birmingham) can continue with this thread or y'all can start a new thread in "patient user groups" here, http://cancergrace.org/forum/lung-thoracic-cancer/patientuser-groups I could move your conversation here to the new one.

Whatever you decide know we are here to help, and that includes helping to communicate with those few others with the same rare issues.

Let me know what I can do,
Janine

jimmieruth
Reply To: Inherited t790m mutation

Thank you catdander. You, Callie, and I are quite close. Small world. Not feeling so lonely. Not too "thread" literate. What is the advantage of moving the conversation? I want to be where I am more easily found with the t790m heading. Would that change?

catdander
Reply To: Inherited t790m mutation

Oh jeez, I wrote and thought I sent this post yesterday saying,
Oh jeez, this thread is already in the User Groups forum, never mind. It's where it should be and is perfect.

Dr West
Reply To: Inherited t790m mutation

I think I'll have the opportunity to do a video podcast of one of the docs directly involved with this work (Dr. Geoffrey Oxnard, Dana Farber Cancer Institute) in a couple of weeks, so I'll get his commentary and be able to offer that soon.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education

calliem3
Reply To: Inherited t790m mutation

Dr West
That sounds great. Looking forward to learning more information.

jimmieruth
Reply To: Inherited t790m mutation

Dr. West
Looking forward to Oxnard Podcast. Curious to learn how the Registry is going. Also, could you inquire if they are perhaps going to do any DNA research to determine if we t790m mutants may have DNA ancestry in common. Thank you.

Dr West
Reply To: Inherited t790m mutation

I'll check what they know and are looking at as current or next questions.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education

jimmieruth
Reply To: Inherited t790m mutation

Had an interview with Dana-Farber researcher this afternoon re family history. Asked if they had any plans to possibly identify similar DNA family originations. No plans, but thought an interesting question. Seems to me that is the question.

jimmieruth
Reply To: Inherited t790m mutation

After 18 rounds of radiation completed in December 2012 directed at one lung tumor, and most recent CT scan completed in January, I am said to be "stable" with slow growing tumors. Next scan a PET scheduled may 1. My daughter has returned to work and is recovering from her lung cancer surgery. My son will be back in the country late February, and will undergo DNA germ line T790M screening upon his return.

catdander
Reply To: Inherited t790m mutation

Oh my Jimmieruth, what a post, so short yet filled with so much hope.
May your cancer remain slow and controllable,
Your daughter be cured and
Your son have no unusual germ lines to worry about.

Janine

Dr West
Reply To: Inherited t790m mutation

Good luck to you and your whole family. I'll be speaking with Dr. Oxnard later this week and will try to post the podcast of his comments very quickly for people here.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education

jimmieruth
Reply To: Inherited t790m mutation

My son received his test package from the Dana-Farber Harvard T790M research team. He swabbed his cheek as instructed, and returned the package. He has been identified to also carry the gene. They will mail him a blood test package to confirm this finding. After further confirmation, he will have a CT scan. He has children. No plans have yet been identified for testing the third generation.

I have been in contact with CallieM3. Her father tested positive for the T790M gene mutation at Vanderbilt. She plans on getting tested for the gene and a baseline CT.

catdander
Reply To: Inherited t790m mutation

Thanks jimmieruth for this update. I hope all further updates will be reports of smooth sailing.

Janine

certain spring
Reply To: Inherited t790m mutation

jimmieruth, apart from helping others by blazing a trail for cancer research, may I ask how you are doing yourself?

jimmieruth
Reply To: Inherited t790m mutation

Hi Catdander and Certain Spring.
Had my follow-up appointment with my Radiologist on Monday. My May 1 Pet analysis indicates that I am stable. No indication of any other activity outside the lungs. That is good news. I feel good. Am pretty active. I do tire easily, but as I tell my doctor, I figure the aches and pains are normal as I am OLD.

My daughter and I were interviewed last Friday by a reporter from an Oncology magazine. Dr. Carbone (now at Ohio State), who first diagnosed my Inherited T790M Mutation, is working with the Dana-Farber Harvard Research Team in conjunction with the Bonnie Addario Lung Cancer Foundation. They are trying to broaden the knowledge of the T790M mutation and the importance of Molecular testing and targeted treatments and that one size doesn't fit all any more. Sites such as this Grace Site are invaluable in pulling us all together to share, support, and learn from each other. Doctors and Patients. My best regards to you all.

certain spring
Reply To: Inherited t790m mutation

Really delighted to hear that things are stable.

doubletime
Reply To: Inherited t790m mutation

Hi guys, new studies and interview:

CHARACTERISTICS OF LUNG CANCERS ARISING IN GERMLINE EGFR T790M MUTATION CARRIERS AND RELATIONSHIP TO SMOKING STATUS
https://www.iaslc.org/articles/characteristics-lung-cancers-arising-germ...

Interview
http://medicalresearch.com/cancer-_-oncology/lung-cancer/lung-cancer-ger...

Dr West
Reply To: Inherited t790m mutation

Thanks. I'll write a post about this subject in the next few days.

-Dr. West

+++++++++++++++++++++++++
Dr. Howard (Jack) West
Associate Clinical Professor
Medical Oncology
City of Hope Cancer Center
Duarte, CA

Founder & President
Global Resource for Advancing
Cancer Education