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What’s in Your Genes? My Genetic Testing Results

What's in Your Genes? My Genetic Testing Results

What’s in Your Genes? My Genetic Testing Results

What's in Your Genes? My Genetic Testing

Jean Jacket: c/o Levi’s ($68)
Cami: Nordstrom ($35)
Wide-Leg Pants: Asos ($26), also love this and this
Shoes:Kelly & Katie ($39.99)
Sunglasses: c/o Sunglass Warehouse

My Genetic Testing Story

Ever since I was diagnosed with breast cancer, I was an immediate candidate for genetic testing due to the age I was diagnosed with cancer. I was diagnosed at the age of 27. There was no obvious history of cancer in my family, but because I was under the age of 40, they think it is a possibility that a gene mutation runs in my family.

The reason why a gene mutation was a possibility is because it is rare to have cancer at such a young age. Cancer cells are abnormal cells and it happens through time and age. So when a young person is diagnosed with cancer, they question the genetic makeup.

What's in Your Genes? My Genetic Testing Results

Gene Mutations

Because I was diagnosed with breast cancer, the majority of people I have spoken to (non-medical professionals) assumed I have the BRCA1 or BRCA2 gene mutation. However, that is not true. As I mentioned in my initial diagnosis post, I do not have the BRCA1 or BRCA2 gene mutation. If you are new to cancer genetic testing, you are probably thinking, “Ok, what other gene mutations can cause breast cancer?”

What's in Your Genes? My Genetic Testing Results

Well, my genetic testing looked into 6 genes: BRCA1, BRCA2, PALB2, TP53, PTEN, and CDH1. As I discussed before, my genetic testing results showed that I have a variant in the PALB2 gene. After speaking to a genetic counselor, they concluded that my results were inconclusive (go figure). Even though I have a variant in the PALB2 gene, that variant wasn’t the same same variant as the known PALB2 gene mutation. Therefore, it means 3 things.

  1. There wasn’t enough data to prove that my specific variant in the PALB2 gene is a known gene mutation that causes cancer.
  2. It could just be a variant and therefore not have a relationship to cancer.
  3. After the collection of more data in the future, the variant could be determined with more certainty to be a gene mutation that does or does not cause cancer.

When I heard this, I was like omg really? Why is it that ever since I was diagnosed with cancer everything is pretty much inconclusive? Now that I have more knowledge about what is going with cancer and the cancer world, I have learned it is because there is not enough data. As you all may be aware of, looking at data and its trends is what helps us create a conclusion or an action plan.

What's in Your Genes? My Genetic Testing Results

Developments

What has been recently learned is that every cancer’s characteristics are unique and unique to that individual. So now, medical professionals have been doing more tailored cancer treatments. This is why someone who has the same EXACT breast cancer as I do (if you didn’t know this, breast cancer is a general term and there are actually several types of breast cancer – this is why it is a complicated disease) could have a very different cancer treatment plan than me. This is why we should never compare one cancer patient’s plan to another.

What's in Your Genes? My Genetic Testing Results

With young people diagnosed with breast cancer, they are also thinking about looking into the genealogy of this. Therefore, they are looking into more genes and their variants. They hope that once that is figured out, an even more tailored treatment, or even better, prevention can happen.

#INVISIBLEGENES

Although I did not go to this cancer center, one of the medical institutions that is a proponent for genetic testing is PENN Medicine Basser Center. They are the world’s first comprehensive center focused solely on the prevention and treatment of cancers associated with inherited gene mutation. As of now, their main focus is the BRCA gene mutation.

Their institution wants to raise awareness of hereditary cancer and that is why they started the #INVISIBLEGENES campaign. A few months ago, Levi’s partnered with them and 100% of the purchased cost of their Levi’s jean jacket went towards the funding of the #INVISIBLEGENES campaign. (Please note that the Levi’s partnership with this campaign is now over.) How awesome is that! I love it when my favorite brands give back to causes I feel strongly about and 100% IS HUGE!

What's in Your Genes? My Genetic Testing Results

If you want to learn more about Basser Center and their assistance with hereditary cancer, I highly recommend checking out their page. It is full of helpful information and resources.

Afterthought

I want to make a point that just because there is a gene mutation does not mean you are guaranteed to have cancer. It seems like the assumption is if you have a gene mutation, you have cancer. Yes, it may increase your chances compared to your average person, but it doesn’t mean you will get cancer. There are individuals who have gene mutations and they were never diagnosed with cancer. But I do think it is important to learn and understand more about your genes.

What's in Your Genes? My Genetic Testing Results

xo RD

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Comments

  2. So brave to go through it! I did project on medical genetics about breast cancer and not so long after I left medical school becuase it was too tough for me to process… I have put emotions into everything and was diagnosing myself with everything i was studying at the moment. I admire od you and your knowledge!

    The Gown http://www.thegown.cz

    Reply

    • Wow Irena that is impressive. You had quite the project! It is hard not to self-diagnose. But remember it is more about knowing your body and if anything is odd, don’t be afraid to call it out!

      Reply

    • Definitely agree! But at least they are acknowledging that data is powerful and they are taking a deeper dive into it!

      Reply

  5. So interesting! Thanks for sharing this, I think it’s so important to keep learning and be educated. I am loving your outfit as well.

    xo, Lydia

    Reply

    • No problem! I’ve been asked so frequently if I have any gene mutation and figured I’d share it!

      Reply

  7. Although it sucks and there are no doubts about that, I think it’s amazing where the medicine has arrived in all these years. I mean, they can really map your genes and see if there is something wrong with them. I have hope that one day no one will have to suffer of cancer again or at least there will be always a cure for that. xx
    http://www.bonjourchiara.com

    Reply

    • Thanks girl! Right now, that’s what they are working on. They are trying to map it. But it is difficult because everyone’s body is different. I hope they do find a cure!

      Reply

  8. I don’t regularly follow your blog (although I will be following it now), but I am so sorry to hear that you have/had breast cancer. It’s how I lost both of my grandmothers, and it’s a scary disease. I’ve heard it skips a generation, so it would be interesting to take this test myself and see how high my risk is, and if I have any of the common genetic indicators. You are so strong and brave, and I admire that you can talk about one of the scariest diseases out there with a beautiful smile on your face! Wishing you health and happiness from Michigan <3

    Reply

    • Thank you so much Annie for your kind words. I am so sorry you lost your grandmothers to this awful disease. I do hope that one day they will find a cure. If you have any questions about my genetic testing process, don’t hesitate to reach out. Thanks again <3

      Reply

  10. See? That’s the topic that should be written about on blogs more often. My mother had endometrial carcinoma, she’s fine now, but since both my sister and I are genetically more prone to get cancer, we have to check ourselves really often. I didn’t know much of the stuff you described, like the types and so on, so I’m really glad you touched this topic. I’m glad you feel better now. Btw you look really nice, I like the jacket the most’ I always wanted one like that but I can never get the size that would fit me.
    Dorota
    http://www.fetchcandle.wordpress.com

    Reply

    • Thank you so much for your feedback! So sorry to hear that you and your sister are more prone, but please know it doesn’t mean you will get cancer. Hopefully are get to be a candidate for genetic testing!

      Reply

    • Hey girl, I do not have the BRCA gene. I shared that with my test results above and in more detail what I found. But I do agree that it is important to donate towards breast cancer research to find a cure!

      Reply

  12. Incredibly informative post! I have a high school friend who was diagnosed with the BRAC1 gene after being diagnosed at 30 she had BC. It’s so important to remember everyone’s cancer journey is different and can lead to my different paths. Thank you for sharing this with us! <3

    Reply

  13. I haven’t done any gene testing like this, but maybe I should at some point. And I must say that I think this is such a Rach look. I love it and it’s perfect for spring.

    Reply

  15. What an interesting journey to get tested only to find your results inconclusive. I am sure as they continue to collect data we will learn more over the years. As always, I learned from your post and appreciate you sharing with us. That is so neat that Levi’s partnered to raise money for this.

    Amy Ann
    Straight A Style

    Reply

    • I thought it was interesting too! I was told that hopefully in 5 years they will have more information. I think it is neat too about Levi’s! Thank you so much Amy Ann!

      Reply

  17. This was so fascinating to read! I never knew anything about gene mutations, let alone how they affect cancer patients or can increase the probability of cancer in someone’s future. I’ve learned so much from you after reading your blog for many months now. Thank you so much for always sharing and informing us!

    Reply

    • So glad to hear you find it fascinating! I hope you learned something! And as always, thank you so much Stephanie for your kind words!

      Reply

  18. Such a great post, Rach. You know I wonder how gene mutation evolve, i.e. how they develop? This whole thing is such a mystery to me. Also, there are so many variations of cancer, as you said, and it makes me sad sometimes that not even dr’s have the answers sometime.

    Anyhow, thanks for sharing this post!
    Happy Monday, babe!
    xoxo, Vanessa
    http://www.WhatWouldVWear.com

    Reply

    • Thank you so much V! Sometimes we are born with gene mutations, and sometimes it is due to our lifestyle. I think the human body in general is such a mystery! I hope one day they will have a better idea!

      Reply

  21. Thank you so much for sharing this post with us. I honestly had no idea about the different types of genetic mutations and what they all mean. This was so interesting and helpful! <3
    Lee | LegalLee Blonde

    Reply

    • I honestly didn’t know either until I was diagnosed with cancer. Glad you find it informative!

      Reply

  25. You’re so brave to have been diagnosed with cancer at such a young age! I have seen how cancer can affect someone’s life and I wouldn’t wish it upon anyone! As a pharmacy student stuff like this really intrigues me. Gene mutations do occur over time and can be due to many reasons such as exposure to x-rays. Cancer is one of those things you just can’t be sure of what caused it and requires a lot of research and I can’t imagine how it must feel to not know what went wrong where.

    KHVDIJA | http://www.khvdija.co.uk

    Reply

  26. Being part of the holistic therapies world, we read so many things about cancer, treatments and how it develops and one thing we conclude: everyone borns already with the predisposition to have cancer and we believe that there is no such thing as hereditary causes. It all dependes on the lifestyle you have, the way you treat your body and specially your mind and soul! Although this is a really good thought-provoking article and we enjoyed to read it and have our discussion about it 😀 May the universe send you all the positive energies and love,
    xx

    Patricia & Miguel
    http://www.freeoversea.com

    Reply

    • Well as of now, it is shown that I do not have hereditary cancer. However, cancer is something sporadic. I had a very healthy lifestyle and I somehow still got cancer. In fact I know several people who you would never think they would cancer because of their lifestyle and how well they treated themselves, still got cancer. Unfortunately, as of now, cancer is something out of our control. But I hope that one day they get to the bottom of it.At least I am glad they are doing personalized treatments because it is recognized that everyone’s body is different and therefore it is specifically tailored.

      Reply

  30. So interesting, Rach. I’m really curious to do genetic testing — I did basic testing years ago before we got pregnant because of certain genes that could predispose our children to certain disorders — however it’s incredible how much we can learn about ourselves in this way. Thank you for being vulnerable and sharing this… and I also love a brand that supports! 🙂

    alyson
    http://www.themodernsavvy.com

    Reply

    • Isn’t it?! I find the whole genealogy world so interesting! I know and I just want to learn more! Thank you so much Alyson! And isn’t it great that Levi’s was part of this cause!

      Reply

  31. I think you’re absolutely right- we need more research, more knowledge, more insight into the way cancer works and what gene mutations do end up causing it. We just don’t know enough at this point, which is so scary! Kudos to you for learning as much as you can!

    -Ashley
    Le Stylo Rouge

    Reply

    • Exactly Ashley! It is scary and I do hope that one day we can get to the bottom of it. Thank you Ashley!

      Reply

  33. Wow this is such an interesting post! I had never even thought about getting a genetic test done before. Your story is really inspiring and makes me want to be proactive. Thank you for sharing! By the way this look is absolutely adorable:)

    xoxo, Hannah

    Reply

  34. Thank you Rach for writing and sharing this very scary and personal experience with us with such style and grace. Also in words that I could understand. Your story is truly inspiring and has given me a lot to think about and encourages me to be proactive.

    Much Love

    Nikki

    Reply

  35. Thank you Rach for writing and sharing this very scary and personal experience with us with such grace and style. Also in words that I could understand. Your story is truly inspiring and has given me a lot to think about and is encouraging me to be proactive.

    Much Love
    Nikki

    Reply

  38. That was a really interesting and informative read. I certainly had no idea breast cancer came in so many different forms, but I guess that helps explain why treatment and diagnosis is so complicated.

    Hopefully you can learn more in the future, but more importantly, hopefully scientists learn more SOON.

    – Jackie from Something About That

    Reply

    • I honestly didn’t know either until I had breast cancer! I do hope we can learn more soon!

      Reply

  40. I’m sure getting inconclusive results is frustration, but I think genetic testing is always a good idea if you’re given the opportunity and hopefully they will continue to make greater medical advances in the years to come. Thank you for sharing your story with us!!

    Reply

    • I totally agree Kristina! As frustrating it is, I know I’m helping into the cause.

      Reply

  43. I loved how you explained this and I know the inconclusiveness has to be so hard. I do love your sweet Springtime outfit!

    Reply

    • It definitely was frustrating at first but I’ve learned to accept it. Thank you Andrea!

      Reply

  45. This was really interesting to read. I’ve thought about getting my genes tested but it was something I thought I could put off until after I got married, before I had kids. Maybe the earlier the better. Cancer is so complicated and it’s a shame that it’s hard to get anything conclusive when you got tested.
    On a different note, I LOVE those culotte pants!!!! They are so gorgeous!

    Reply

    • I do agree the earlier, the better. But please know when you end up talking to a genetic counselor that don’t jump into conclusion. The mind can be so tricky haha! Thank you Deborah! These are my favorite culotte pants so far!

      Reply

  46. Now this is really interesting read dear. Really informative post. Glad you’re finding more answers now for yourself, and you definitely have contributed for further scientific study of this disease. Anyway, you look really pretty with your wide leg pants dear. Cute floral details.

    Jessica | notjessfashion.com

    Reply

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