1. < Breast Cancer

RAD50 c.1245+2C>G mutation

Posted by Hope Diekman @hopediekman, Dec 8, 2020

Hello, this is my first post on here. I am undergoing treatment at Mayo in Rochester for Stage 2, Grade 3 Invasive Ductal Carcinoma, triple negative breast cancer. I have had the first of 4 rounds of AC, then will have 12 weekly rounds of Taxol. I am planning on a lumpectomy pending my genetic testing which just came back with this RAD50 mutation. The genetic counselor said that they believe it is genetically linked to breast cancer but don’t have as much evidence about it yet like they do BRCA1 and BRCA2 genes. Does anyone else have a mutation in this gene or the exact mutation that I have? Has this affected your decision between lumpectomy or mastectomy? Thank you!

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Moderator
Colleen Young, Connect Director | @colleenyoung | Dec 8, 2023
In reply to @knorman059 "@hopediekman Hi! I just found your post. I also have the RAD50 c.1245+2C>G mutation as well..." + (show)
@knorman059

@hopediekman Hi! I just found your post. I also have the RAD50
c.1245+2C>G mutation as well as ATM c.3245_3247delinsTGAT. My mom has had breast cancer and had a lumpectomy. She’s currently being tested as well. MLH2 also runs in our family as well with many having colon cancer and duodenal cancer. I’m still in the absorbing stage and defining where I go from here, but I hope you’re doing well and wanted to say hi and follow this thread. This is all helpful information to share since I was told the RAD 50 variant was an “insignificant finding” and the ATM variant was more of a concern. I felt like I’d get a call in 20 years telling me more unfortunate findings regarding this variant, so reading everyone’s input has been helpful. Take care.

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Welcome, @knorman059. It can be challenging to know what to do with genetic information. I understand when you say you're still in the absorbing stage. Luckily you don't have to make any urgent decisions. You have time to come to terms with your results and consider what it means for your future. If you're thinking about treatment to reduce your risk of cancer, take your time to research and understand all your options. Sometimes it's helpful to seek a second opinion or meet with a breast specialist who can help you weigh the risks and benefits of the available options based on your individual situation.

Some people find it helps to know their genetic risk so they can be proactive and establish a personalized plan to deal with their increased risk. Does knowing your risk status ease psychological and emotional distress for you?

REPLY
rmcculler | @rmcculler | May 10 5:16am

I also have the Rad50 mutation. My mother and daughter have since also tested positive. I opted for a bi-lateral mastectomy as a result, as well as a preventative oophorectomy.
So happy to connect with others in this classification. Most haven’t heard of it.
Wishing you strength on your journey.

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1 reply
rmcculler | @rmcculler | May 10 5:20am
In reply to @mamasailer "Thank you @kmuir would you be willing to share your oncologist information. I can’t find someone..." + (show)
@mamasailer

Thank you @kmuir would you be willing to share your oncologist information. I can’t find someone who knows anything at Rad50. I be willing to do a consult anywhere...

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Me too, please. My oncologist is still recommending my daughter wait until 40 to do mammograms, even though she tested positive for Rad 50 and I have bc.

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2 replies
kaki49 | @kaki49 | May 11 10:32am
In reply to @rmcculler "Me too, please. My oncologist is still recommending my daughter wait until 40 to do mammograms,..." + (show)
@rmcculler

Me too, please. My oncologist is still recommending my daughter wait until 40 to do mammograms, even though she tested positive for Rad 50 and I have bc.

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I would get a second opinion because I’ve read that positives should start early.

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BeBold | @bebold | May 21 11:19pm
In reply to @rmcculler "Me too, please. My oncologist is still recommending my daughter wait until 40 to do mammograms,..." + (show)
@rmcculler

Me too, please. My oncologist is still recommending my daughter wait until 40 to do mammograms, even though she tested positive for Rad 50 and I have bc.

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A breast cancer radiologist I was listening to said with family history, younger than 40 need a mammogram. There are 20 yos on YT who's dr said with finding a lump, it can't be cancer, you are in your 20s. Didn't take her seriously to even do a biopsy for 6 mos or longer. By the time they did it, just saying, she was stage 4 with mets.

Don't listen to drs who say women of a young age can't get cancer. Its wrong. Esp with her testing and your 1st° relationship. Be proactive. Force them to at least do a mammogram for later comparison. Pay attention to YOUR internal guidance. Its such a simple test and not doing it can have terrible consequences, as you know. She is high risk isn't she? What's the harm? My best.

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thrashej | @thrashej | May 29 9:11am

Chiming in to say I also tested positive for RAD 50 through Mayo. Have you found anything else out? Not much out there.

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thrashej | @thrashej | 13 hours ago
In reply to @rmcculler "I also have the Rad50 mutation. My mother and daughter have since also tested positive. I..." + (show)
@rmcculler

I also have the Rad50 mutation. My mother and daughter have since also tested positive. I opted for a bi-lateral mastectomy as a result, as well as a preventative oophorectomy.
So happy to connect with others in this classification. Most haven’t heard of it.
Wishing you strength on your journey.

Jump to this post

Curious what your age was when you had your oophorectomy?

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