Gene BLM pathogenic variant
Anyone with stage 1, grade 1 HR+, HER2- Invasive Ductal Carcinoma with a pathogenic BLM variant? Still waiting for final pathology after lumpectomy. With this genetic variant, a history of eczema & atopic dermatitis and numerous allergies, sensitive skin and hypermobility (connective tissue disorder), I am leaning towards declining radiation and possibly the tamoxifen. Looking for anyone in a similar situation- particularly with the BLM variant.
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@katie5515 - Welcome to Breastcancer.org! We're glad you found us and decided to post your story here.
It sounds like you're facing important decisions right now, and we hope we can all help you find the support and information you need. Until other members post here with their own experiences, here are some links to our main site that might be helpful for your specific situation:
Hope this helps! We also hope you find someone here with the same BLM gene variant who can share their experiences with you.
Warm regards,
The Mods
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Hi @katie5515 , I have no knowledge of the BLM variant but with a connective tissue disorder you should consider radiation very carefully. I didn't know it at the time but I had subclinical ILD and ended up with severe scarring in most of my right lung. Although the lung is not the target, radiation scatter often reaches it; something similar could happen with your lung tissue. You should ask your rheumatologist/allergist or whoever treats your hypermobility and skin conditions about the effect tamoxifen might have. Doctors look at patients through the eyes of their specialty and often don't know the consequences of their recommendations on other comorbidities. You have to determine the balance which is best for your personal medical situation. Good luck with your decision.
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