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!

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

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.

Jump to this post

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
View MoreView Less
Please sign in or register to post a reply.