RAD50 c.1245+2C>G mutation

Posted by Hope5272 @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!

Hi Hope, welcome to the Breast Cancer group. I'm tagging a few fellow members who have also posted about genetic mutations helping them in their treatment choices, such as @starko @coffeefreak and @dianamiracle. You may also find these related discussions helpful:

– High Risk Mutation (ie. BRCA, ATM, RAD51D) https://connect.mayoclinic.org/discussion/high-risk-mutation-ie-brca-atm-rad51d/
– New here with DCIS and gene mutation https://connect.mayoclinic.org/discussion/new-here-with-dcis-and-gene-mutation/
– Genetic testing…does anyone have the CHEK2 gene mutation https://connect.mayoclinic.org/discussion/genetic-testing-does-anyone-have-the-chek2-gene-mutation/

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

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@colleenyoung

Hi Hope, welcome to the Breast Cancer group. I'm tagging a few fellow members who have also posted about genetic mutations helping them in their treatment choices, such as @starko @coffeefreak and @dianamiracle. You may also find these related discussions helpful:

– High Risk Mutation (ie. BRCA, ATM, RAD51D) https://connect.mayoclinic.org/discussion/high-risk-mutation-ie-brca-atm-rad51d/
– New here with DCIS and gene mutation https://connect.mayoclinic.org/discussion/new-here-with-dcis-and-gene-mutation/
– Genetic testing…does anyone have the CHEK2 gene mutation https://connect.mayoclinic.org/discussion/genetic-testing-does-anyone-have-the-chek2-gene-mutation/

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

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Hi Colleen, if this is a high risk familial mutation for breast cancer I probably would chose mastectomy over lumpectomy but upon further research of this mutation I have found that there isn’t much evidence yet of it being so. One genetic testing institution has called it likely pathogenic (the one that did my test) and another has called it VUS (variant of unknown certainty). I did literature searches on the variant and didn’t find any clinical evidence either on it. As of right now I am going to opt for lumpectomy should I get that option after chemotherapy is completed.

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I also have the RAD50 mutation and changed my surgery from lumpectomy to B mastectomy.

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@kmuir

I also have the RAD50 mutation and changed my surgery from lumpectomy to B mastectomy.

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Welcome @kmuir. I'm sure @hopediekman will appreciate connecting with someone else who has the RAD50 mutation.

Kmuir, have you had surgery already?

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@colleenyoung

Welcome @kmuir. I'm sure @hopediekman will appreciate connecting with someone else who has the RAD50 mutation.

Kmuir, have you had surgery already?

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I had surgery 3 weeks ago. Tomorrow I see oncologist to find out what’s next. My children, siblings, and mother have also completed genetic testing with several of them also being positive for RAD50. Mother and maternal aunt both had breast CA.

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@kmuir

I had surgery 3 weeks ago. Tomorrow I see oncologist to find out what’s next. My children, siblings, and mother have also completed genetic testing with several of them also being positive for RAD50. Mother and maternal aunt both had breast CA.

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@kmuir, what did you find out? What is next for you?

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I just tested positive for both Rad50 in addition to MSH2 and also variant unknown significance for Braca1…. it’s a lot to process.
Mom and grandma both had breast cancer.

I’m having a harder time getting information about Rad50 and would love to know what you have learned @kmuir and @hope5272

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@mamasailer

I just tested positive for both Rad50 in addition to MSH2 and also variant unknown significance for Braca1…. it’s a lot to process.
Mom and grandma both had breast cancer.

I’m having a harder time getting information about Rad50 and would love to know what you have learned @kmuir and @hope5272

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My mother and aunt both had breast CA so i went through genetic testing. I have the RAD50 mutation. After discussion with breast surgeon and oncologist i changed my surgery to B mastectomy instead of lumpectomy. Apparently with the RAD50 mutation your chance of getting breast CA increases to 24%. My children and mother along with my sibling all went through the genetic testing with my Mother, daughter, both my brothers, and my niece all having the same RAD50 mutation. My daughter and niece have met with geneticists are are being set up at high risk breast clinics for screenings alternating MRIs and 3D mammography each year. They will also be screened for ovarian ca as apparently the risk for that is also slightly increased. Hope this gives you some info.

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@kmuir

My mother and aunt both had breast CA so i went through genetic testing. I have the RAD50 mutation. After discussion with breast surgeon and oncologist i changed my surgery to B mastectomy instead of lumpectomy. Apparently with the RAD50 mutation your chance of getting breast CA increases to 24%. My children and mother along with my sibling all went through the genetic testing with my Mother, daughter, both my brothers, and my niece all having the same RAD50 mutation. My daughter and niece have met with geneticists are are being set up at high risk breast clinics for screenings alternating MRIs and 3D mammography each year. They will also be screened for ovarian ca as apparently the risk for that is also slightly increased. Hope this gives you some info.

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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

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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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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@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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