
What’s in Your Genes? My Genetic Testing Results
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.
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?”
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.
- There wasn’t enough data to prove that my specific variant in the PALB2 gene is a known gene mutation that causes cancer.
- It could just be a variant and therefore not have a relationship to cancer.
- 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.
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.
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!
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.
xo RD
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Thanks Grazia!
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
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!
Such a beautiful spring outfit! Thank you for yor style tips! I loved your flats! There is also a beautful flats collection inthis website too!
All this is so interesting! Also I hate when results are inconclusive. Cute outfit and I too agree that it’s always important to keep learning!
~Samantha
http://goldcoastgirlblog.com
Definitely agree! But at least they are acknowledging that data is powerful and they are taking a deeper dive into it!
This is fascinating, and I’m glad you just informed me a little bit more on this subject. Great Campaign!
http://www.jessicabroyles.com
It is! I hope we end up getting more data so we can learn more!
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
No problem! I’ve been asked so frequently if I have any gene mutation and figured I’d share it!
Great.
http://www.rsrue.blogspot.com
Thank you!
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
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!
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
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
Wo thats so much information! Genes are such an interesting yet complicated topic and its kinda scary looking into it eh? It’s a great way to figure out if you might have potential issues in the future though.
-Didier
http://www.didieryhc.com
They really are so complicated! I do hope they find a way to figure it out!
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
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!
I am so sorry to hear that you have the BRCA gene. A friend of mine has it as well and just underwent a double mastectomy. It is so important to raise awareness and to donate to breast cancer causes so they can find a cure soon!
xo Jessica
http://www.whatsfordinneresq.com
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!
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
Totally true! Sending so much love to your friend! Thank you Laura!
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.
It is very interesting! And thank you so much Cheryl!
You are so, so brave beautiful girl! Thanks for sharing your story and update! Also, your outfit is actual goals. LOVE!
-Emily | http://www.East91Blog.com
Thank you so much Emily!
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
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!
Very interesting post. Thanx for searing! Best http://www.lachicadelamaleta.com
You’re welcome!
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!
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!
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
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!
I have heard about genetic testing, but haven’t tried it before. I definitely find it fascinating. Thanks for sharing with us. You look wonderful. That is a nice skirt on you.
https://www.missymayification.co.uk
I find it fascinating too! And you are so welcome!
This was so interesting! I did not know much about cancer before so thank you for informing me. I think that it is so brave of you to share something so personal!
http://whatmakesmesmileblog.com/
You are welcome Freja! Thank you so much!
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
I honestly didn’t know either until I was diagnosed with cancer. Glad you find it informative!
What an interesting thing to do! I hate it when test results are inconclusive, but at least you learned some things. On the fashion front, those pants are so cute!
Nicole
Nicole to the Nines
I know the inconclusive drives me nuts! haha! Thank you Nicole!
Great post! I think many people are aware of BRCA they don’t know about the other gene mutations. Thanks for sharing!
Magda
https://www.gloryofthesnow.com/
You’re welcome Magda!
I’m sorry your results were inconclusive. That must be so frustrating! Your positivity and light throughout everything is so inspiring!
Megan | http://www.pipmegan.com
Thank you so much Megan!
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
That’s exactly what I have learned too! Thank you so much Khadija!
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
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.
This is such an interesting topic Rach, thanks for sharing!
I totally agree Anna!
Rach thank you so much for sharing this gal! Extremely interesting and beneficial for us all to know. You’re an amazing lady! You truly amaze me daily and inspire me often!
xo Laura Leigh
http://www.louellareese.com
Aww thank you so much Laura Leigh!
So beautiful!! I love your look!
Today in my blog a basic outfit.
Kisses
http://cmlaurislife.blogspot.com.es/2018/05/back-to-basics.html
Thank you Laura!
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
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!
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
Exactly Ashley! It is scary and I do hope that one day we can get to the bottom of it. Thank you Ashley!
Omg this was soooo interesting girl! I’ve never had my genetics tested before, but I would love to know more about them! Ps. Cutest outfit as always!!
xo,
H
http://firsttimethings.com/
I find genetics to so interesting!! I want to know more too!
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
Thank you so much Hannah for your kind and sweet words!
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
Thank you so much Nikki! That means a lot!
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
So interesting post,thanks for sharing great information.I would like to know if this test are 100% efficient
http://thepinkpineappleblog.blogspot.com/
Isn’t it interesting?! The genetic test is done by blood tests.
Thank you for sharing these! I didn’t know most of these information so this post was really informative. Sending you lots of warm wishes
Lesley Kim
New post: How to wear peach for Spring
I’m glad you found it to be so informative!
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
I honestly didn’t know either until I had breast cancer! I do hope we can learn more soon!
Aw I love that you shared all of this – something that I definitely need to look into doing!
Thanks Morgan! Hopefully you can!
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!!
I totally agree Kristina! As frustrating it is, I know I’m helping into the cause.
I never knew about that.
Thanks for educating us about that
I can see that you are a strong person
Much Love,
Jane | The Bandwagon Chic
Glad I can help with some new info!
This was such an interesting and personal post to read so thanks so much for sharing your story. I love your outfit too – you look so beautiful in that skirt!
Heather xoxo
https://www.hefafa.me.uk