CHEK2 del promoter exon 1

Hopscotched1

Hello there,

I'm a 39 year old female with Negative results for BRCA 1 & 2, but have Positive results for CHEK2 mutation: deletion of promoter exon 1. I just learned this information yesterday.

Presenting problem: small mass and bloody galactorrhea in same breast. Notes of interest: Normal mammogram, finding of 2mm node in ultrasound, node also detected in MRI. Ultrasound guided core needle biopsy on node resulted in 2mm benign fibroadenoma in breast affected with bloody galactorrhea. Breast surgeon wants to do ductoscopy to check for DCIS, papilloma(s), or other findings too small to pick up even in MRI.

Upcoming breast surgery: ductoscopy with possible lumpectomy for any resulting suspicious findings scheduled at end of July 2018.

My question: After researching extensively, I understand the increased cancer risk is from the CHEK2 mutation: 1100delC and the l157T variant. My mutation, the deletion of promoter exon 1 (which has a non-coding function as I understand it) has almost no information that I can find in reputable medical journals and the internet. I have not spoken to a genetic counselor, but my reading material from my test results indicate my mutation has the same 'significant risk' for breast cancer (x4 with presenting family history), and moderate increased risk for colon cancer.

Short of taking a self-taught biochemistry crash course, does anyone in this forum have this same mutation, and would you please respond to my thread with your presenting problems, findings, and action taken? I.e., did you have prophylactic surgery on breasts or ovaries? (I plan not to unless ductoscopy results in DCIS or atypical hyplasia papilloma(s).

Family history: mother, DCIS with lumpectomy at age 33, has minor calcifications since her 50s, she is now 65, and is undergoing some bone problems, and unrelated congestive heart failure. Maternal aunt, invasive breast cancer at age 40 (mom was adopted; details unknown), maternal grandmother passed from colectoral cancer in 70s

Thanks in advance,

Galwondering

MissMB78

Identical stats to yours, 39, Chek2, Del Promoter Exon 1 results.

I have seen a genetic counselor and really didn't find out much information about this. I had a PDM in April this year. I can't find anything STRONG with ovaries so I haven't done anything there.

Just wanted to respond, you aren't alone.

Best!