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!

Interested in more discussions like this? Go to the Breast Cancer Support Group.

@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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@mamasailer, you may wish to consider consulting Mayo Clinic's breast cancer clinic. Here is the contact information for all 3 locations: http://mayocl.in/1mtmR63

@kmuir, how did the genetic knowledge influence the treatment options for you?

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I opted for Bilateral mastectomies rather than lumpectomy.

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RAD51C. Have you discussed also having a BSO for ovarian cancer risk reduction?

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I also have the Rad50 gene along with MSH2 but luckily this was discovered before I have had any cancers. I also have a Braca 1 significances Unknowen . I am meeting with the surgeon at Mayo to plan my hysterectomy and oophorectomy. I am still in discussions with the breast specialist about tamoxifen vs mastectomy.
They don’t know enough about Rad50 yet but both my mom and grandmother had breast cancer. MSH2 is the one that is pushing the first surgery....
I’ve had a few consultations and would be happy to discuss them with you.

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@mamasailer

I also have the Rad50 gene along with MSH2 but luckily this was discovered before I have had any cancers. I also have a Braca 1 significances Unknowen . I am meeting with the surgeon at Mayo to plan my hysterectomy and oophorectomy. I am still in discussions with the breast specialist about tamoxifen vs mastectomy.
They don’t know enough about Rad50 yet but both my mom and grandmother had breast cancer. MSH2 is the one that is pushing the first surgery....
I’ve had a few consultations and would be happy to discuss them with you.

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Hi there, I am finding this string after googling "RAD50". I found out I had it after being diagnosed with stage 1 TNBC two years ago. I had a double MX and I'm considering an oophorectomy. I'm wondering if anyone knows where to find more info about RAD50.

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@rad5049

Hi there, I am finding this string after googling "RAD50". I found out I had it after being diagnosed with stage 1 TNBC two years ago. I had a double MX and I'm considering an oophorectomy. I'm wondering if anyone knows where to find more info about RAD50.

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Welcome, @rad5049. Health care professionals are increasingly using genetic information about breast cancer cells to categorize breast cancers. You might find this article just published today on Mayo Clinic News Network to be interesting:
- Consumer Health: Breast cancer types and what your type means https://newsnetwork.mayoclinic.org/discussion/consumer-health-breast-cancer-types-and-what-your-type-means/

@gwinter has the gene mutation RAD51C and decided to have an oopherectomy and may be able to share her experiences.

Rad, what questions do you have or information are you looking for?

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@colleenyoung

Hi Hope, welcome. I'm tagging a few fellow members who have posted about genetic mutations helping them in their treatment choices, such as @starko @coffeefreak and @dianamiracle. You may also find this related discussion helpful:
- High Risk Mutation (ie. BRCA, ATM, RAD51D) https://connect.mayoclinic.org/discussion/high-risk-mutation-ie-brca-atm-rad51d/

@hopediekman, how might the results of your genetic testing influence your choice between lumpectomy and mastectomy?

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Hello 👋 I tested positive for the CHEK2 variant. My staging was III Grade B ER+ when I was diagnosed. That along with my Family history, tumor larger than 5 cm, and being only 45 was why my chemo came first and then DMX (cancer in left breast only)
Unfortunelty that adds up to 65% recurrence which is why I’m on Anastrozole and Verzenio both now. I was on a
Zoladex injection until I had my total hysterectomy last month. Prayers for
All of your decision making that u r as informed as possible

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@kmuir

I was referred to a genetic counselor and she recommended testing. Following getting results back i met with the geneticist who was able to provide me with the risk numbers. The RAD50 mutation is not as well known about as the BRCA mutations so there is not as much info out there. I also tried to research it but was unable to find much. Im from western part of ND and opted to go to Sanford Roger Maris Cancer Center in Fargo, ND. I going through reconstruction now and have been very satisfied with my overall care there. Let me know if you need anymore info.

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Hi, I was wondering if you only tested positive for the RAD50 mutation and negative for everything else? I only have the RAD50 mutation and the geneticist told me it wasn't considered high risk asthere isn't much information on that particular mutation. My mother had Ovarian cancer and 2 of my mother's sister have had breast cancer. Just wonder what my options are other than increased screening as I also have extremely dense tissue.

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@cravenrad50

Hi, I was wondering if you only tested positive for the RAD50 mutation and negative for everything else? I only have the RAD50 mutation and the geneticist told me it wasn't considered high risk asthere isn't much information on that particular mutation. My mother had Ovarian cancer and 2 of my mother's sister have had breast cancer. Just wonder what my options are other than increased screening as I also have extremely dense tissue.

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@cravenrad50, what treatment or surveillance options have been suggested for you? Have you spoken with a genetics counsellor?

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@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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