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Topic: Expanded gene panel negative

Forum: ILC (Invasive Lobular Carcinoma) — Just diagnosed, in treatment, or finished treatment for ILC.

Posted on: Dec 18, 2018 12:54PM

Lojo wrote:

Hello ILC folks,

Just a quick update, and some interesting (I think) info. I had a regular ob/gyn check a few months ago, and they did an ultrasound to look at ovaries, uterus, etc. Mostly because I've now been on tamoxifen for almost 5 yrs. Anyway, a fibroid that we knew was there previously is now bigger, so that triggered an MRI (and brief freak-out on my part). Fortunately, the MRI strongly indicates it's just a fibroid, but my gyn still wants it out before it gets bigger and causes problems. I'm 46 now, and not super near menopause. However, because I do have a family history of BC (mom dx at age 45, and her first cousin also dx pre-menopausal) plus some other cancers (lung - father & his sister - though both smokers, and a 2nd cousin just dx with pancreatic), both my gyn and oncologist wanted me to do the expanded gene panel testing just in case I had any mutations increasing risk of ovarian so they could take the ovaries out at the same time as the fibroid surgery. I'd had the BRCA 1/2 testing done 5 yrs ago during my initial diagnosis, but those were negative. I also had a colonoscopy (a few yrs early) this fall - also fine, and am on the 10 yr return plan.

I have not seen the full results yet, but I talked to the genetic counselor today and she said the results were all negative - no known mutations.

Does anyone else here have significant pre-menopausal family history but tested negative for these expanded gene panels? I know there might be other mutations yet to be discovered that increase risk, but I was sure that I'd have one of these identifiable mutations given my family history. Unfortunately I don't know what kind of BC my mom had - whether ILC or IDC. She did have bone mets when she died, but nowhere else, as far as I know.

Any thoughts on negative gene testing with significant family history would be appreciated.

dx at 41, ILC, stage 2a, 4cm, 0/1 nodes, ER+/PR+, HER2-, grade 1, BMX 11/2013, tamoxif 1/2014
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Dec 18, 2018 01:21PM Spoonie77 wrote:

I'm in the same boat with you. Had the expanded panel and thought for sure, given all the family history of BC and other cancers in my fam, I would have one at least. I was mentally preparing for a BMX. Thankfully, turned out negative for any known mutations. It was a relief, but also at the same time puzzling.

I'm of the mind, like you, that in a few years when more is known, I wouldn't be surprised to have mine then show a mutation.


- mother BC (over 60)

- sister Ovarian (under 40)

- brother and father Prostate

- paternal aunt BC (under 50)

- paternal cousin BC (under 40)

- lots of other cancers in immediate fam, but as far as I know those were the ones my genetic counselor was the most concerned about

"Spoonie" who entered BC World @ 41. DXd w/MS & Thyroid Cancer @42. Treatment: LX/SLNB/RADs. Plan A: 5mg Tamox = 0 QOL. Plan B: OS/AI = Rare allergy to OS meds. Plan C: Only option left,  Diet & Exercise. PS: Not a dr, just a Googler. Dx 7/20/2018, IDC, Left, 3cm, Stage IIA, Grade 2, 0/3 nodes, ER+/PR+, HER2- (FISH) Surgery 8/29/2018 Lumpectomy: Left; Lymph node removal: Left, Sentinel Dx 8/30/2018, DCIS, Left, 1cm, Stage 0, Grade 2 Radiation Therapy 9/30/2018 Whole-breast: Breast, Lymph nodes, Chest wall Hormonal Therapy 3/29/2019 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Hormonal Therapy 7/1/2019 Zoladex (goserelin)
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Dec 18, 2018 02:02PM jessie123 wrote:

Did they test you for (may be spelling this wrong) the Lynch syndrome? I called the sleep number store to inquire about beds in case I need it after potential MX. Told the sales woman about my BC and learned her mother also had BC. She explained her mom was tested for this syndrome because so many family members had different kinds of cancer. Her mom was positive so she was also tested and the test was positive. That test may have saved this young woman's life as she is in her early 30's and now has to start mammograms and colonoscopies on a very regular basis.

Dx 11/2018, LCIS/ILC, Left, 2cm, Stage IB, Grade 2, 0/2 nodes, ER+/PR+, HER2- Surgery 2/21/2019 Lumpectomy: Left; Lymph node removal: Sentinel Radiation Therapy 4/15/2019 Whole-breast: Breast
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Dec 18, 2018 07:21PM Peregrinelady wrote:

When I went to the genetics counselor, she said there is obviously a cancer gene in my family. It just hasn’t been identified yet. Twin sister BC early 40’s and father pancreatic. Both passed away in 2008, sadly. My sister and I tested negative for BRCA, although geneticist said my sister’s testing was very basic compared to current tests. I came up VUS (variant of unknown significance).
Dx 4/24/2015, IDC, Left, 2cm, Stage IIB, Grade 2, 1/2 nodes, ER+/PR+, HER2- Surgery 5/18/2015 Mastectomy: Left Hormonal Therapy 6/1/2015 Liquid tamoxifen (Soltamox) Surgery 4/19/2016 Mastectomy: Right; Prophylactic ovary removal; Reconstruction (left): DIEP flap; Reconstruction (right): DIEP flap Hormonal Therapy 8/1/2016 Arimidex (anastrozole) Hormonal Therapy 7/20/2020 Femara (letrozole)
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Dec 18, 2018 10:47PM TwinkleCat wrote:

I also have a very strong family history -- was tested for 34 genes and had 2 VUS, but no known pathogenic mutations. There are probably many more gene mutations that scientists are not yet aware of!

Mom to 5 cats, runner, choir nerd Dx 7/23/2018, ILC/IDC, Right, 2cm, Stage IV, metastasized to brain/bone, Grade 2, ER+/PR+, HER2- Hormonal Therapy 8/16/2018 Faslodex (fulvestrant) Radiation Therapy 8/21/2018 External: Brain Targeted Therapy 9/25/2018 Ibrance (palbociclib)

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