Results of 23andMe DNA test

Kvdyson
Kvdyson Member Posts: 790 Member
in Uterine/Endometrial Cancer #1

Hi everyone, I received the results from my 23andMe DNA test and wanted to share some of them with you. The reports that come directly from 23andMe are rather unimpressive but the data behind those reports is compelling. To get to that data, I paid an additional $5 to a company called Promethease which then linked directly to the data and provided a searchable database of nearly 20,000 of my genes.

I am not a genetic counselor and still don't really understand what these results mean for me in the big picture. The Promethease database provides links to references to help interpret the results but it's not like they give you an easy-to-understand report that spells anything out. However, based on what I've learned from reading posts here and on other support groups, there were some very specific gene mutations that I was interested in researching and here are my results for those (I've pretty much only referenced the "bad" mutations here):

Genes mentioned in the Metformin conversation on Cancer Connect:

1) BRCA1 (2 bad mutations: rs1799966. rs16942), BRCA2 (0 bad), CHEK2 (0 bad), EPCAM (0 bad), MLH1 (1 inconclusive - related to MSH2), MLH2 (not listed), MSH2 (1 inconclusive - related to  MLH1), MSH6 (0 bad), MUTYH (0 bad), PMS2 (0 bad), POLD1 (0 bad), PTEN (0 bad), TP53 (0 bad).

2) PiK3R1 (0 bad), CTNNB1 (0 bad), AKT (0 bad), MTOR (0 bad), RB1 (0 bad), and SF3B1 (not listed)

Breast cancer genes:

ATM (1 bad: rs664143), BARD1 (0 bad), BRCA1 (2 bad: rs1799966. rs16942), BRCA2 (0 bad), BRIP1 (0 bad), CDH1 (0 bad), CHEK2 (0 bad), FANCM (0 bad), HER2 (not listed) MLH1(1 inconclusive - related to MSH2), MRE11A (0 bad), MSH2 (1 inconclusive - related to  MLH1), MSH6 (0 bad), MUTYH (0 bad), NBN (0 bad), PALB2 (1 bad: rs249954), PMS1 (0 bad), PMS2 (0 bad), PTEN (0 bad), RAD50 (0 bad), RAD51C (not listed), STK11 (1 bad: rs59912467) and TP53 (0 bad) genes

Ovarian cancer genes:

BRCA1 (2 bad: rs1799966. rs16942), BRCA2 (0 bad), TP53 (0 bad), MLH1 (1 inconclusive - related to MSH2), MSH2 (1 inconclusive - related to  MLH1)

Lynch Syndrome genes:

MLH1 (1 inconclusive - related to MSH2), MSH2 (1 inconclusive - related to  MLH1)

Uterine carcinosarcoma genes:

JAK2 (3 bad: rs12340895, rs10974944, rs3780374), KRAS (0 bad), PIK3CA (0 bad), CTNNB1 (0 bad), PTEN (0 bad), FBXW7 (not listed), TP53  (0 bad), and ERBB2  (0 bad), ARID1A (not listed), KMT2C (not listed), ARID1B (0 bad), MLL3 (not listed), SPOP (0 bad), BAZ1A (not listed), PTEN (0 bad), MSH6 (0 bad), JAZF1 (0 bad), JJAZ1 (not listed)

These are just a few of the twenty thousand results that I am still pouring over and trying to understand better (not all the results were bad). It is truly fascinating to look at yourself from this angle. I hope to use this information to help answer some questions I've had about my two cancers and to help decrease my risk of getting any more.

I'm interested to find out if anyone else has gone this route with genetic testing and if so, how you used/interpreted the results? Kim

 

 

 

 

 

 

Comments

  • ncg007
    ncg007 Member Posts: 138 Member
    edited July 2016 #2
    Kim

    Let me know when you figure it all out...Lol!  i'm getting mine done this coming month through the hospital genetic center.  Mother & sister had the BRCA test several years ago which they were just told no mutation present.  But now with the technology advances there will be much more data.  My mom had breast, ovarian, colon and sister breast; three maternal aunts with breast cancer too.  So I'm suspicious that it has to be in the genes.  Good luck in interpreting all the data!

    Nancy

  • brissance
    brissance Member Posts: 192
    #3
    Hi Kim

    You are always so upbeat and that smile always lifts my spirits!

     

  • EZLiving66
    EZLiving66 Member Posts: 1,483 Member
    #4
    Wow!!!  Is there someone you

    Wow!!!  Is there someone you can go to who can analyze these results??  That is just fascinating but I'd love to see it in plain English. If you get any additional information please share it with us. 

    Love, 

    Eldri

  • beccabtown
    beccabtown Member Posts: 234
    #5
    Kim,

    Kim,

    I would imagine you could take the report to a genetic counselor and have them go over it with you. You've probably already thought of that.

  • bluehyacinth
    bluehyacinth Member Posts: 54 Member
    #6
    My oncologist ordered a

    My oncologist ordered a foundation one report of genomic alterations and whether there are any FDA approved treatments for those genes.

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #7
    brissance said:

    Hi Kim

    You are always so upbeat and that smile always lifts my spirits!

     

    Thanks, Patty!

    Thanks, Patty! I am not always upbeat but I try not to worry about anything I cannot control - which is most things!

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #8
    ncg007 said:

    Kim

    Let me know when you figure it all out...Lol!  i'm getting mine done this coming month through the hospital genetic center.  Mother & sister had the BRCA test several years ago which they were just told no mutation present.  But now with the technology advances there will be much more data.  My mom had breast, ovarian, colon and sister breast; three maternal aunts with breast cancer too.  So I'm suspicious that it has to be in the genes.  Good luck in interpreting all the data!

    Nancy

    Trying to figure it out

    Thanks, Nancy! I don't know that I'll really figure any of this out but I think it's making me realize that I can not skip any of the annual preventive tests and check-ups like I used to...

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #9
    EZLiving66 said:

    Wow!!!  Is there someone you

    Wow!!!  Is there someone you can go to who can analyze these results??  That is just fascinating but I'd love to see it in plain English. If you get any additional information please share it with us. 

    Love, 

    Eldri

    Searching for someone

    Hi Eldri, I am searching for someone to help me interpret the results better. Unfortunately, the federal government makes it very hard for anyone to do that. I contacted the genetic counselors that 23andMe listed on their website but they told me that they'd have to re-test me ($$) and that they'd only do it IF I have a family history of cancer - which I don't. It's very frustrating but I'll keep searching until I find someone!

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #10
    beccabtown said:

    Kim,

    Kim,

    I would imagine you could take the report to a genetic counselor and have them go over it with you. You've probably already thought of that.

    Genetic Counselor

    Hi, yes, as soon as I saw how much data there was I knew that I needed help so I contacted the Genetic Counselors on the 23andMe website. Unfortunately, they only work with those who have a family history of cancer (I don't) and they would have to retest me for only specific genes. 23andMe used to provide an easy to understand report that detailed the mutations but the federal government stopped them. Maybe I should start a petition to compel the government to allow us to have more control over the knowledge that comes from this type of information! :D

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #11
    bluehyacinth said:

    My oncologist ordered a

    My oncologist ordered a foundation one report of genomic alterations and whether there are any FDA approved treatments for those genes.

    Foundation One

    Hi Blue, that's great to hear. Sounds like you have a very pro-active doctor on your side! I looked on the Foundation One website and it looks like they analyze 315 cancer-related genes. That report should certainly prove helpful in your serach for a treatment!

    The 23andMe/Promethease report analyzed nearly 20,000 of my genes. Not all were cancer-related. For instance, I found that I have 18 bad mutations that increase my risk for heart disease and strokes (my father died from complications of stroke). I shared that information with my siblings so that we can all be more diligent in watching for symptoms that may indicate a problem early.

    I am going to contact my gyn-onc about the two bad BRCA1 mutations to see if he'll direct me to someone local who may be able to help me understand just what those mean. He's a really great medical doctor but I'm not sure how much help he'll be. He tries to protect me from making myself nuts (his words, not mine) by researching and reading studies about this disease. Hopefully, he'll be willing to help me when I show him these fact-based results. Wish me luck! Kim

     

  • Tethys41
    Tethys41 Member Posts: 1,382 Member
    edited August 2016 #12
    Genetics

    Hi Kvdyson,

    You do have a lot of data there.  I have also had this testing done, but the bulk of the mutations I have and that you listed were already being addressed with diet and lifestyle, which I adopted under the guidance of a naturopath.  

    There is a book you may find interesting, called Pottenger's Prophecy, which describes epigenetics which is the study of how the expression of genes can be 'managed' through your diet, lifestyle, and environment.  Genes are not static, as we were taught in high school, but are easily manipulated.  

    The aspect of the 23andme testing that I found most helpful was related to methylation, which, since you have the BRCA1 mutation, might be something of interest to you.  I am also BRCA1 positive.  Methylation affects nearly all of the processes in our bodies and where it is important with the BRCA mutation is that methylation affects the production of DNA.  With the BRCA mutation, your body is more prone to producing DNA that is mutated and puts you at higher risk of breast and ovarian cancer.  Managing methylation helps your body manage DNA production.  

    If you are interesting in learning your methylation mutations, you can go to this website:

    www.geneticgenie.org

    It will direct you to download the raw data from the 23andme website.  It is easy and the site walks you through the process.  

    The best resources to look up with regard to your results are Dr. Ben Lynch, he has his own website which discusses methylation and he is the leader in this research. 

    http://mthfr.net/

    and no, mthfr is not a vulger abbreviation,  it is the name of one of the methylation genes.  Embarassed

    Dr. Amy Yasko's online book about autism.  She has identified a link between methylation and autism and she walks the reader through how to address each mutation separately to improve methylation in your body.

    http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf

    Good luck.  

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #13
    Tethys41 said:

    Genetics

    Hi Kvdyson,

    You do have a lot of data there.  I have also had this testing done, but the bulk of the mutations I have and that you listed were already being addressed with diet and lifestyle, which I adopted under the guidance of a naturopath.  

    There is a book you may find interesting, called Pottenger's Prophecy, which describes epigenetics which is the study of how the expression of genes can be 'managed' through your diet, lifestyle, and environment.  Genes are not static, as we were taught in high school, but are easily manipulated.  

    The aspect of the 23andme testing that I found most helpful was related to methylation, which, since you have the BRCA1 mutation, might be something of interest to you.  I am also BRCA1 positive.  Methylation affects nearly all of the processes in our bodies and where it is important with the BRCA mutation is that methylation affects the production of DNA.  With the BRCA mutation, your body is more prone to producing DNA that is mutated and puts you at higher risk of breast and ovarian cancer.  Managing methylation helps your body manage DNA production.  

    If you are interesting in learning your methylation mutations, you can go to this website:

    www.geneticgenie.org

    It will direct you to download the raw data from the 23andme website.  It is easy and the site walks you through the process.  

    The best resources to look up with regard to your results are Dr. Ben Lynch, he has his own website which discusses methylation and he is the leader in this research. 

    http://mthfr.net/

    and no, mthfr is not a vulger abbreviation,  it is the name of one of the methylation genes.  Embarassed

    Dr. Amy Yasko's online book about autism.  She has identified a link between methylation and autism and she walks the reader through how to address each mutation separately to improve methylation in your body.

    http://www.dramyyasko.com/wp-content/files_flutter/1327512160_9_1_1_8_pdf_02_file.pdf

    Good luck.  

    Genetics

    Thank you, Tethys41. I appreciate you sharing that information with me and will definetly look into it! Kim

  • BC Brady
    BC Brady Member Posts: 70
    #14
    Kvdyson said:

    Genetics

    Thank you, Tethys41. I appreciate you sharing that information with me and will definetly look into it! Kim

    Awaiting Genetic Markers

    So glad I found this thread. I've not been on much this summer. Had a PET scan on August 8th and results were once again "mixed". Some areas progressing, some areas regressing and not lighting up as much. My doc at Roswell in Buffalo decided not to do chemo on Aug 12th as scheduled but instead to do 4 biopsies under my arm where I have a colony of lymph nodes that are affected. My disease is completely in lymph nodes now, with no solid tumors. I liken it to a brush fire and the chemo is trying to keep it at bay. It's not doing a fantastic job - but it's not a complete failure either. Now I'm basically on my 5th week without chemo while we await further genetic testing from the biopsies to see if I have other options. If I don't have any markers for the latest biologics, or immunotherapies, then I am back on chemo on Sept 2 - this time, topotecan. I learned something tho - that maybe you all knew. The genetics doc said that just because I had the original tumors tested, does not mean that the tissue it's the same now - that cancer is always changing and morphing - thats why its so successful - its changing to survivie - to outlast the chemo. The term chemo resistant makes more sense to me now. The targeted therapies would give me a fighting chance at actually cutting the head off this monster. As nervous as I am without the chemo - if a new genetic therapy door opens, I'm going to walk thru it. Some great articles in the NY Times about this topic. One called "The Lazarus Effect" - fantastic - may we all be Lazarus!

    Billie

  • Kvdyson
    Kvdyson Member Posts: 790 Member
    #15
    BC Brady said:

    Awaiting Genetic Markers

    So glad I found this thread. I've not been on much this summer. Had a PET scan on August 8th and results were once again "mixed". Some areas progressing, some areas regressing and not lighting up as much. My doc at Roswell in Buffalo decided not to do chemo on Aug 12th as scheduled but instead to do 4 biopsies under my arm where I have a colony of lymph nodes that are affected. My disease is completely in lymph nodes now, with no solid tumors. I liken it to a brush fire and the chemo is trying to keep it at bay. It's not doing a fantastic job - but it's not a complete failure either. Now I'm basically on my 5th week without chemo while we await further genetic testing from the biopsies to see if I have other options. If I don't have any markers for the latest biologics, or immunotherapies, then I am back on chemo on Sept 2 - this time, topotecan. I learned something tho - that maybe you all knew. The genetics doc said that just because I had the original tumors tested, does not mean that the tissue it's the same now - that cancer is always changing and morphing - thats why its so successful - its changing to survivie - to outlast the chemo. The term chemo resistant makes more sense to me now. The targeted therapies would give me a fighting chance at actually cutting the head off this monster. As nervous as I am without the chemo - if a new genetic therapy door opens, I'm going to walk thru it. Some great articles in the NY Times about this topic. One called "The Lazarus Effect" - fantastic - may we all be Lazarus!

    Billie

    Have each new tumor tissue tested

    Hi Billie, I've heard the same thing - that is, to wait until a recurrence and have the new tumor tissue genetically tested. So sorry about the spread to your lymph nodes. I hope the biopsy results provide you with good information and you can get onto a new biolgic or immunotherapy. Please let us know what you hear back. Kim

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