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Nov 24, 2018 03:19PM
Mostly copied from another post:
I originally went for genetic counseling in my early/mid 30's due to dense breast tissue, fibrocystic breasts and family history. Was advised that since family history seemed to be post menopausal and there were no protections for insurance/employment at that time I should not be tested and continue with my annual mammograms which were started early.
Flash forward to age 51 when I was diagnosed with breast cancer. When meeting with breast surgeon team and relaying family history, small family, mom breast cancer, her sister lung cancer, her brother bladder cancer and multiple myeloma, her niece (my cousin) Hodgkin's Lymphoma, my sister colorectal cancer, my dad's mother, grandmother and aunt breast cancer, my dad's nephew (my cousin) glioblastoma they absolutely recommend testing.
Was covered by insurance. Invitae charged $1500. Insurance paid them $825. I paid nothing as I already met out of pocket maximum.
Came back positive for ATM mutation. Given the risk of radiation toxicity, cancer in other breast, and lobular features of my cancer I chose bilateral mastectomy with prepectoral reconstruction/silicone implants and Anastrazole.
I always assumed I would get breast cancer. Just not this young. Was planning for 70's... Was really disappointed when I went for my 4th colonoscopy last month. Previous ones have been clear or just a few polyps but this one had 15 polyps, 4 of which were precancerous. Now will do annual colonoscopies vs. every three years. They say I have Serrated Polyposis Syndrome.
My mom tested negative for mutation so it is from paternal side. My sister's kids will get tested at some point. They are in their 20's. My father had one sibling, a sister, who had a prophylactic mastectomy when her mother was diagnosed. She knows about the ATM status. Hopefully she will let her two surviving children know. They are quite a bit younger, early 40's I think. My father's mother had one brother and have let his three kids know.
My cancer never showed up on 3D mammograms. It also did not feel sinister to any of the doctors who felt it. Listen to your body. Knowledge is power. I would rather know and be vigilant, and have a better shot at a long life!
Had genetic counseling at Johns Hopkins in September. Was interested to know what the "other" cancers aside from breast, colon, pancreatic and prostate cancer seem to be associated with the ATM mutation. Also how our outcomes, metastatic rates, etc... compare.
Editing to add..... After new research shows link with increased risk of ovarian cancer, my MO and Genetic Oncologist recommend removal of ovaries and tubes. I will be doing that Spring of 2019.
Would love to hear from other ATM'ers!
Best of luck to all of us!
ATM Gene Mutation, Deletion. Exons 62 & 63. IDC w/Lobular Features and Focal Mucinous Features , Pre Pectoral Reconstruction
2/20/2018, DCIS/IDC, Left, 1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR+, HER2-
4/5/2018 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
5/5/2018 Arimidex (anastrozole)
7/2/2018 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant