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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