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Topic: BRCA1 variant affecting treatment - thought they were non-issue?

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, and RINT1 genes

Posted on: Mar 1, 2017 08:50AM

BeachLover72 wrote:

Good morning :) Before I ask my question I have to let you all know how much I've learned from everyone posting to this community overall and I so appreciate the experience and knowledge shared – Thank you!

My family history of cancer includes:

  • Both grandmothers diagnosed with breast cancer after age 60
  • Maternal grandmother had second bc diagnosis seven years after her first with her second occurrence being bilateral with a different type of bc in each breast. She died three years later after the bc spread.
  • Paternal grandmother had two cousins diagnosed with breast cancer while they were young – one in her 30's and a male cousin in his 40's. Also an aunt diagnosed in her 50's with breast cancer and ovarian cancer.
  • My aunt diagnosed with soft tissue cancer in her mouth at age 43 (non-smoker, didn't drink) and died a year later. Uncle with non-Hodgkin lympoma at age 31 (survivor), cousin with leukemia at age 18 mos (survivor.) One double cousin a year older than myself who was being monitored for clusters/masses and was supposed to get biopsies but chickened out and hasn't been back to her doctor since.
  • History of type 1 diabetes on paternal side as well as polycystic ovaries (PCOS) on maternal side.

My question is regarding my rather round-about process with genetic testing since my original diagnosis. It's a bit confusing and long but my facts are as follows:

  • First mammo age 36 in 2009 when GYN thought she felt a lump at annual check. Cluster of micro-calcifications noted but neither she or I were informed (I just received the "all clear" postcard in the mail.)
  • First regular screening mammo age 42 in 2015 resulted in diagnostic call-back then biopsies for mass on right side and for additional cluster of micro-calcifications on left side. Mass on right was benign, cluster in left side was grade 2/3 DCIS cluster of micro-calcifications (mixed grade was their notation added because the cluster was a mix of cribiform and comedo with widespread necrosis.) They did not biopsy the original cluster and just planned to take it out when they removed the DCIS.
  • BRCA testing before surgery came back with variant and was treated as negative result. There was no genetic counseling, just a tech visit for a blood test and resulting lab report. Lab testing was done through Myriad **If BRCA had come back with a mutation my surgeon was "strongly suggesting" a double mastectomy.
  • Lumpectomy, Dec 30, 2016, both the biopsied cluster and the original cluster were cancer. Clean margins. 6 weeks full-breast radiation.
  • Offered Tamoxifen but I have polycystic ovaries and have been on Metformin for years due to PCOS-related insulin resistance. My symptoms/weight are under control so possible benefits of Tamoxifen weighed against the possible issues with stopping Metformin. They left it up to me, I chose to wait and reconsider if anything comes back.
  • Nothing came back on my first 6 mos mammos this past Oct (yay!)

Fast forward to this past January. The genetics department I'd been referred to when I was diagnosed finally had me come in for a genetics counseling appointment – do to family history, they still wanted to do a panel to rule out any cancer syndrome mutations. We didn't think the BRCA test would come up again because it had been done in 2015 but the geneticist looked at my results and realized it had only been partially completed so it had to be redone as part of the panel.

Received results last week. Same BRCA1 variant from late 2015, this time testing done through Invitae Labs with additional research notes added and read by geneticist = they believe this variant is "suspicious" as it's only been seen once before and that was a family with strong history of breast and ovarian cancer. Labs won't cover blanket testing for my family but wants to test anyone in my family with a past or active breast or ovarian diagnosis to see if they have same variant (only my surviving grandmother right now.)

Geneticist and surgeon recommending treating this as a high risk based on my family history and personal history. They're adding MRI to my 6 mos checks and I'll be doing every 6 mos from now on instead of every being released back to regular yearly screenings.

Has anyone else had this situation with a BRCA variant result (not this specific variant, but anything other than a positive mutation result?) I realize I also have family history, younger age of my diagnosis, etc. But it knocked us for a loop, honestly. As of now have next 6 mos check with bilateral mammos and MRI in late May. But my husband and I are going to be talking to the surgeon before then about whether she still thinks a double mastectomy is something to consider. Geneticist agreed it was worth talking about due to what our possible insurance coverage for MRIs, anxiety factor every 6 mos, and having had full-breast radiation already on the left it wouldn't be possible to radiate again if something showed up on that side.

Sorry to be so long winded but I thought I was finished with all of this. Now there's a whole new level of stuff to sort through. Anyone with similar situations?

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Mar 6, 2017 08:15AM vlnrph wrote:

I am not in the exact same situation but wanted to respond to your message and clarify a few things for anyone else seeing this. You refer to a geneticist: is that person a fellowship trained physician (not very many exist except in major teaching/research institutions) or a counselor with master's degree? The description of your experience shows how important competent interpretation, not to mention pre-testing guidance, can be!

The effect of radiation on tissue already compromised in terms of deficient DNA repair function would be a concern if I had your history. I hope you can sort this out in a way which gives you & your family peace of mind, knowing you made the correct decisions using the bestinformation you had available at the time.

Be sure to review the FORCE website for support along with additional issues for consideration. You may also want to put your data into the PROMPT study in order to help others who come down this road in the future...

IDC too! Rt MX/DIEP 4-2011; ALND 5-2011 d/t micromets; TC X 4; tamoxifen; lymphedema as of 9-18-11; switch to letrozole 3-15-14; Discovery made during chemo=I'm a human BEING, not a human DOING Dx 3/7/2011, ILC, 2cm, Stage IIA, Grade 2, 1/25 nodes, ER+/PR+, HER2-
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Mar 19, 2017 02:29PM BeachLover72 wrote:

vlnrph, I'm so sorry, I didn't receive a notification of a reply here. Thank you for your response.

My genetic counseling appointment in January was with Cincinnati Children's Hospital Dept of Human Genetics:

The Division of Human Genetics is a leader in genetics education. The Genetic Counseling Graduate Program is one of the oldest and largest such programs in the United States. We have American Board of Medical Genetics certified training programs in medical genetics, medical and clinical biochemical genetics, clinical cytogenetics, and clinical molecular genetics for training leaders in human genetics.

According to my paperwork, I was assigned a "clinical team" based on the referral from my breast surgeon and oncologist. That team includes three people: the person we actually saw who mapped my family history, talked through things with us, etc. is a MS/LCG, then detailed notes and recommendations written by one team member who is a "Clinical Molecular Geneticist" and another who is a physician, associate professor, and is a co-director of one of the specialized genetics programs.

**Side note: Cincinnati Children's is an amazing institution and we've been incredibly blessed to live so close. We have many friends and family whose lives have been benefited by their services.

I know there is a lot I don't understand about all of this. My GYN called me in specifically to talk about the results last week and my husband went with me, both for his benefit and my own so I had a second person to remember or hear things I missed. My GYN has been my doctor for 10+ years and I trust her. I asked if we could wait on making a decision about my ovaries until after the breast cancer issue was taken care of (appt with my surgeon next week) but my GYN said she wasn't comfortable waiting even six months given my family history, the results, my polycystic ovaries, and lack of 100% foolproof ovarian cancer screening. My outpatient surgery to remove ovaries and tubes is scheduled for April 21. For now there is a bilateral mammogram and MRI set up for late May (we're working around my older son's high school graduate as much as possible so there's a gap in there, my choice.)

I have been a part of a study I was referred to after my original diagnosis though need to see if that's the one you mention. I will definitely be checking the FORCE website – thank you for that referral!

Still pretty overwhelmed.

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