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RAD50 c.1245+2C>G mutation

Breast Cancer | Last Active: Dec 8, 2023 | Replies (21)

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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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Replies to "Hi Hope, welcome. I'm tagging a few fellow members who have posted about genetic mutations helping..."

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.

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