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Topic: No mutations found, but?

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Jul 5, 2017 10:55AM

lkc wrote:

hello all,

I am looking for some feedback. I was always told my chances are developing breast cancer was high due to my strong family history.

My mother, my only maternal aunt, and my maternal grandmother all died from met BC. Previous family history unknown

Despite , close monitoring , I was diagnosed with a stage IIIC diagnosis

I was / am advised by every oncologist I have spoken to over many years that my family most likely carries a mutation.

Simply not a coincidence....

I just got back my results from Color genetics and no mutation was found, which does not satisfy me.

And leaves me with more questions...

My Go to fabulous oncologist has retired and I am kind of at loose ends.

My gut tells me that ther are more mutations out there that are not currently included in the panels available.

I have a daughter and 2 granddaughters I am concerned about.

anyone have any thoughts on this?



Thanks


Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Jul 5, 2017 12:40PM BarredOwl wrote:

Hi lkc:

Yes, it is possible that there are additional cancer-related genes that are not included in the 30-gene panel that may confer increased breast cancer risk either alone (single-gene traits) or when present along with a mutation in a second gene (e.g., multigene traits). There are a variety of other possible explanations for negative test results despite a strong family history and a personal history of breast cancer, including but not limited to occurrences of genetic and sporadic disease within the same family, or potential limitations of genetic testing methods (e.g., not capable of detecting all gene rearrangements; they mainly sequence the protein coding region and intron/exon boundaries, but not all intronic or control regions).

The NCCN guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 2.2017) recommend pre-test and post-test genetic counseling.

Per their website, ColorGenomics provides complimentary Genetic Counselors to assist in understanding test results, implications and limitations. You can submit an on-line request on this page, if you wish:

>> https://support.color.com/hc/en-us/articles/203705124-Is-there-a-cost-to-consult-with-a-Color-Genetic-Counselor-

>> "Your consultation with a genetic counselor from Color's clinical team is complimentary with your Color purchase. You are encouraged to make an appointment with a Color genetic counselor to discuss your results."

BarredOwl

Stage IA IDC, 9/2013 BMX. Right: IDC (1.5 mm, grade 2) with DCIS (5+ cm), 0/4 nodes, pN0. Left: DCIS (5+ cm), 0/1 node, pN0(i+).
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Jul 5, 2017 01:14PM Peregrinelady wrote:

My genetics counselor said that there is obviously a genetic component in my family, but that it just hasn't been found yet. Therefore I am in some kind of registry and they will notify me if newer genes are found.

Fraternal twin passed from mets BC at 45, father died of pancreatic at 74, his brother died of colon cancer, and their mother had breast cancer in her 50's but lived to 87. I want to be like her

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) Hormonal Therapy 3/4/2021 Arimidex (anastrozole)
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Jul 5, 2017 01:21PM Peregrinelady wrote:

She also said that gene testing has come a long way since my sister was tested in 2005, so hopefully that will benefit our children down the road. My sister ( and I) tested negative for BRCA, but she suggested that my brother get tested for his daughter's sake. Don't know if he will, but I told them what she said.

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) Hormonal Therapy 3/4/2021 Arimidex (anastrozole)
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Jul 5, 2017 01:26PM illimae wrote:

I agree that there is something that just hasn't been found yet. My mother and maternal aunt were both diagnosed with BC in their 60's in the last few years. My aunt was first but when my mom was too my PCP had me get a mammo, I was 39 and it came back clear. 18 months later, I found a large lump that appeared seemingly overnight, had a mammo, US and biopsy within 2 weeks, stage IV from the get go at 41. My genetic panel showed no mutations either but the genetic specialist believes that there are likely mutations ina combination of genes yet unknown. She advised I tell all female relatives to start getting screened at age 31.

Diagnosed at 41 Stage IV De Novo Dx 11/16/2016, IDC, Left, 5cm, Stage IV, metastasized to bone, Grade 3, 3/13 nodes, ER+/PR-, HER2+ (IHC) Chemotherapy 1/2/2017 Abraxane (albumin-bound or nab-paclitaxel) Targeted Therapy 1/2/2017 Herceptin (trastuzumab) Targeted Therapy 1/2/2017 Perjeta (pertuzumab) Surgery 6/26/2017 Lumpectomy: Left; Lymph node removal: Underarm/Axillary Radiation Therapy 8/10/2017 Breast, Lymph nodes Dx 10/5/2017, IDC, Left, 5cm, Stage IV, metastasized to brain, Grade 3, 3/13 nodes, ER+, HER2+ (IHC) Radiation Therapy 10/20/2017 External: Brain Radiation Therapy 4/18/2018 External: Brain Radiation Therapy 5/23/2019 External: Brain Surgery 1/22/2020 Radiation Therapy 2/17/2020 External: Brain Radiation Therapy 7/20/2020 External: Bone Radiation Therapy 12/4/2020 External: Brain Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Targeted Therapy Tukysa (tucatinib) Chemotherapy Xeloda (capecitabine)
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Jul 5, 2017 05:00PM Peregrinelady wrote:

lllimae, I found my lump after a negative mammogram. PCP ordered an ultrasound, then called me and said it was fine. 20 months later (including another "clear" mammo) the breast started hurting because it was cancer. Both of us should have had a MRI, but I think many PCPs are not well trained in paying attention to family history.
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) Hormonal Therapy 3/4/2021 Arimidex (anastrozole)
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Jul 5, 2017 05:21PM illimae wrote:

I agree generally but ialso understand that it would be difficult to justify an MRI based on family history alone. At the time I had no pain, lump, anything, the original mammo was only allowed under age 40 because of the family history. I had this PCP for about 14 years so far and other than allergy meds and annual exam/blood work, I've only been sick twice, he was as shocked as I, that this happened and so quickly.

Diagnosed at 41 Stage IV De Novo Dx 11/16/2016, IDC, Left, 5cm, Stage IV, metastasized to bone, Grade 3, 3/13 nodes, ER+/PR-, HER2+ (IHC) Chemotherapy 1/2/2017 Abraxane (albumin-bound or nab-paclitaxel) Targeted Therapy 1/2/2017 Herceptin (trastuzumab) Targeted Therapy 1/2/2017 Perjeta (pertuzumab) Surgery 6/26/2017 Lumpectomy: Left; Lymph node removal: Underarm/Axillary Radiation Therapy 8/10/2017 Breast, Lymph nodes Dx 10/5/2017, IDC, Left, 5cm, Stage IV, metastasized to brain, Grade 3, 3/13 nodes, ER+, HER2+ (IHC) Radiation Therapy 10/20/2017 External: Brain Radiation Therapy 4/18/2018 External: Brain Radiation Therapy 5/23/2019 External: Brain Surgery 1/22/2020 Radiation Therapy 2/17/2020 External: Brain Radiation Therapy 7/20/2020 External: Bone Radiation Therapy 12/4/2020 External: Brain Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Targeted Therapy Tukysa (tucatinib) Chemotherapy Xeloda (capecitabine)
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Jul 5, 2017 08:52PM lkc wrote:

thank you all for your feedback. I just feel it in my bones, that there is something mutated. in my DNA. That reeks of BC. I am the only one to survive thus far,And am relentless in my mission to protect my only dtr and her 2 girls .

Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Jul 5, 2017 10:16PM farmerlucy wrote:

We are in a similar position. Mom, maternal aunt, paternal gr grandmother passed from premenopausal BC. No mutations for me either. My daughter is now 27, the age of earliest onset in the family. However her pcp and the lady at a Johns Hopkins said to start screening at 35. As you know screening alone is quite a burden, and I don't wish that on her before it is time. Btw high risk screening never did anything for me either. For now I counsel her to be diligent with self exams and look for breast changes. Mine was caught incidentally due to nipple bleeding. I take heart in the advancements that are being made in screening, especially the possible "liquid biopsy" that is being tested.



Dx at 51 after a preventive mx that wasn't. Oncotype dx 3. 3D tattoos from Vinnie! PTSD?? You are not alone! Surgery 2/20/2012 Prophylactic mastectomy; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Dx 2/24/2012, IDC, Right, 1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR+, HER2- (FISH) Surgery 3/10/2012 Lymph node removal: Sentinel Surgery 7/21/2012 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Hormonal Therapy 4/9/2013 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Surgery 4/13/2015 Prophylactic ovary removal
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Jul 6, 2017 01:07AM Peregrinelady wrote:

Farmerlucy, it is so scary. I do not want my daughters to have to go through this. I think the genetics counselor said that my girls should start screening at 30. They are now 20 and 21, so it petrifies me when I see women in their 20's on this site

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) Hormonal Therapy 3/4/2021 Arimidex (anastrozole)
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Jul 6, 2017 09:32AM lkc wrote:

hi farmer Lucy,

Yes, because of my family hx, I started screening at 29. Despite being a nurse trained in oncology I was still dxed with a stage IIIC extremely aggressive tumor at age 49.

Additionally the BC appears a decade earlier with ea family member...

My daughter is being watched closely, but I am beyond worried for her... And the girls as well.

I am praying that more familial mutations are discovered

I've been researching genetic mutations and am convinced there are more out there.


Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Jul 6, 2017 12:11PM Peregrinelady wrote:

lkc, can I ask what screening you had? Did it include MRI

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) Hormonal Therapy 3/4/2021 Arimidex (anastrozole)
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Jul 6, 2017 12:41PM MTwoman wrote:

lkc, are you familiar with the genome project? I can give you a website, although I haven't used it myself (yet). https://civic.genome.wustl.edu/#/home

CIVIC stands for Clinical Interpretations of Variants in Cancer and is housed by the Washington University School of Medicine. The original idea was that many people are now getting genetic info of 'unknown consequence' from multiple private companies that may or may not be sharing this info into a central database, so the consequences of those mutations remain unknown. This site is striving to be a clearinghouse for relevant info related to genetic mutations and cancer.

Dx 12/10/2002, DCIS, Right, 1cm, Stage 0, Grade 2, 0/3 nodes, ER-/PR-, HER2- Surgery 12/20/2002 Lumpectomy: Right; Lymph node removal: Sentinel Surgery 12/23/2003 Reconstruction (right): Nipple reconstruction Surgery Reconstruction (right): Saline implant Surgery Reconstruction (right): Tissue expander placement Surgery Mastectomy: Right
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Jul 7, 2017 04:37AM Traveltext wrote:

thanks for posting that link MTW. I've got the worrisome VUS (variation of unknown significance) in the BRCA 1 gene. Mother died young and so I'm worried about my daughter and son. Daughter gets admitted to a high risk public screening program, but son gets no special screening. A it discriminatory IMO.


NED breast and prostate cancer. More on Male BC

Dx 03/14, IBC, Lgth. 2cm, Stge IIIB, Gde 2B, ER+/PR+, HER2- ; FEC x3, Taxol x3; Mx & 2/23 nodes; Rads x 33; now on tamoxofin.

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Jul 7, 2017 10:41AM MTwoman wrote:

sounds like discrimination to me too, his father is living proof that men are also at risk. Glad to help. I'd love some feedback on how the genome site works out for you, it seems to be gaining momentum.

Dx 12/10/2002, DCIS, Right, 1cm, Stage 0, Grade 2, 0/3 nodes, ER-/PR-, HER2- Surgery 12/20/2002 Lumpectomy: Right; Lymph node removal: Sentinel Surgery 12/23/2003 Reconstruction (right): Nipple reconstruction Surgery Reconstruction (right): Saline implant Surgery Reconstruction (right): Tissue expander placement Surgery Mastectomy: Right
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Jul 8, 2017 05:43PM lkc wrote:

Thank you MT , I will look into this.

Just spoke with a genetic counselor who confirmed that a full DNA sequencing may be beneficial for me.


Thanks again.

Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Aug 8, 2017 05:56AM Lissaidell wrote:

Ikc i have a extremely strong family history of cancer also, and literally every type of mast cancer on my moms side and different types on my dads side. I did a genetic test also because of my strong family history and it came back as unknown variant for Lynch. Which from my studying if you have that u can get cancer pretty much in all.organs including breast. I have no idea what unknown variant means though, but I was told that there are other types of genes out there that haven't been found yet. My mom had 15 brother and sisters, out of those I have 1 aunt that is still alive, my mom and then others have all passed away from cancers. So I was told that my family may have genes that havent been found yet but because none of them are alive we can't test them to see if there r any genes. Most of them passed away between 30's and late 40's. Nobody has made it out of their 50's. Im hopeful that with all the things they can do now days that they will find all the genes!!

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Aug 8, 2017 07:00AM Traveltext wrote:

A variation of unknown significance (VUS) is an ambivalent result that will only be defined once geneticists obtain enough evidence of what it might mean. I have a BRCA1 VUS and have two cancers (plus a mum dying young of bc) and my oncologist says "follow the evidence". In your case, with all that familial cancer, I would say the same thing.


NED breast and prostate cancer. More on Male BC

Dx 03/14, IBC, Lgth. 2cm, Stge IIIB, Gde 2B, ER+/PR+, HER2- ; FEC x3, Taxol x3; Mx & 2/23 nodes; Rads x 33; now on tamoxofin.

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