Pten gene

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baddy247
baddy247 Member Posts: 5
edited January 2019 in Genetic Testing

Hi I am new here. I was diagnosed with breast cancer in March 2016 (32 years old) and had a lumpectomy/radiation done between May to June 2016. I had selected lumpectomy/radiation route as I did not have the BRCA1 and BRCA2 gene. Last week, I found out that I was tested positive for this rare cancer causing gene called the PTEN. Apparently this was the reason why I was diagnosed with breast cancer at a "young" age even though none of my family members had breast cancer. Given this is a rare cancer causing gene, there were limited information available on google. Did anyone else in this forum come across this PTEN gene? Can you please share your experience? I am currently on Tamoxifen. Should I stop since I am now at a higher risk for getting uterine cancer? Should I consider getting a mastectomy? I will be meeting with my genetic counselor in the next 2 weeks. Can anyone here please share their experience? Thank you for your time.

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  • Moderators
    Moderators Member Posts: 25,912
    edited September 2018

    Hi baddy247, and we are sorry for what you have to go through again.

    It may be helpful to use the Search box in the left blue navigation and type in PTEN to better find those people and conversations going on.

    As you know, it will be very important to meet with your genetic counselor and treatment team to discuss all risk-reducing treatments associated with the PTEN genetic mutation.

    This page may help you, but your treatment team will know best: If you test positive on genetic testing

    We're all here for you!

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  • besa
    besa Member Posts: 1,088
    edited September 2018

    Sorry you are dealing with this. As the Moderators said a genetic counselor should help you get more information and present options - the first source of information I would use and you already have that set up.

    In addition to information on the breastcancer.org web site you can get more information about PTEN germline mutations by putting "PTEN" into the pubmed search engine below.

    https://www.ncbi.nlm.nih.gov/m/pubmed/

    Also one of the main people studying these mutations is Charis Eng at the Cleveland Clinic

    http://www.lerner.ccf.org/gmi/research/pten.php

    You can also put "PTEN" into the Cleveland Clinic search engine.

    https://my.clevelandclinic.org/search


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  • Cuetang
    Cuetang Member Posts: 575
    edited January 2019

    hi baddy! Fellow pten mutant here as well. How did your genetic counselor appointment go? As with everything with this cancer crapshoot, it’ll be different for all of us (and this is only my unique experience). I had asked my MO a bunch of questions, and she had made changes to my treatment plan. For example, she was comfortable with me going on ovarian suppression/AI instead of tamoxifen because I was concerned about the increased risk for cancer. It involved a lot of discussions and also reading up of information provided by the genetic counselor. Just don’t be afraid to ask questions. As for the decisions — there’s no wrong or right answer to anything! Hugs.

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  • baddy247
    baddy247 Member Posts: 5
    edited January 2019

    Thanks for replying. I will definitely see whether I can reach out to the Cleveland Clinic pertaining to Pten mutation. I did meet with the genetic counsellor in September and was given the types of cancers (endometrial, breast, thyroid, colon and kidney) that pten mutation would bring. Unfortunately, I was diagnosed with atypical endometrial hyperplasia (precancerous cells) shortly after and was ordered to stop Tamoxifen until my hysterectomy which is scheduled for March. I am hoping to keep my ovaries and will further decide during my pre-op appointment in early February. In addition, I found out that I have 20 colon polyps after my colonoscopy in January of this year. Pten mutation definitely torn me apart both mentally and physically. It feels like a 2nd job going to see numerous specialists and doctors. I am praying that I can stay cancer free after the hysterectomy. I want to get a prophylactic mastectomy early next year to eliminate the risk.  Thanks for listening. Have a great weekend!

     

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  • Cuetang
    Cuetang Member Posts: 575
    edited January 2019

    Hang in there! It does suck that the gene mutation causes us to have growing shit as our “superpower”. Don’t ya wish it was another power instead? :).

    Hopefully the polyps did turn out to be nothing! Just remember that while we are more prone to growing crap it doesn’t guarantee that it’s cancer —just that we have to be hyper vigilant. I’ve always hated that it attacks both mentally and physically but we’ve made it this far! Have a great weekend as well!

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