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Topic: Variants of Unknown Significance on Genetic Tests

Forum: High Risk for Breast Cancer — Due to family history, genetics, or other factors.

Posted on: Feb 24, 2016 05:36PM

Angtee15 wrote:

Hello! I ended up getting an inconclusive result on my Breast Next test. I have a variant of unknown significance on the PTEN gene. I know it's not an uncommon result but I am curious if anyone out there had these variants later classified as mutations? Also did this factor into your treatment plan? I've already settled on a bmx before my results and I can't help but feel this genetic "ambiguity" supports this decision.

Dx 11/9/2015, IDC, Left, 2cm, Stage IIA, Grade 3, 0/4 nodes, ER-/PR-, HER2- Chemotherapy 12/6/2015 Adriamycin (doxorubicin), Carboplatin (Paraplatin), Cytoxan (cyclophosphamide), Taxol (paclitaxel) Surgery 5/11/2016 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
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Feb 25, 2016 03:23PM LovingIsLiving wrote:

On your Ambry report there should be somewhere that says "Polyphen" or "SIFT" results. If it says "benign" or "tolerated" that means the variance has been shown to be benign in a lab. If it says "malignant" or "not tolerated" that means it's likely to cause breast cancer. Your choice to do a Bmx is completely up to you. I had a variance in the BARD1, which says "benign" in the Polyphen and SIFT. I didn't know about my results until after surgery, but I had decided on a mastectomy anyway so it wouldn't have changed my choice.

"The Lord is my light and my salvation; whom shall I fear? The Lord is the strength of my life; of whom shall I be afraid?" (Psalms 27:1). The stats below are mine. ♥ My brother lost his fight against breast cancer on Feb 27, 2017 ♥ Dx 10/1/2015, DCIS/IDC, Left, 2cm, Stage IIB, Grade 2, 1/22 nodes, ER+/PR+, HER2- Surgery 11/10/2015 Lymph node removal: Left; Mastectomy: Left Hormonal Therapy 12/28/2015 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Feb 25, 2016 04:58PM SummerAngel wrote:

I have a VUS, too. It didn't change my treatment plan but I think I do feel a bit better knowing I had a BMX, just in case. My genetic test was done by GeneDx and they don't list the Polyphen or SIFT results, but doing a search by the mutation itself gave me the result. Polyphen: Possibly damaging, and SIFT: deleterious. There's also another rating listed, UMD-predictor: 80 (pathogenous).

Age at dx: 45. Oncotype, left-side tumor: 9. Right side had multifocal IDC and "extensive" LCIS. Isolated tumor cells in 1 right-side node. Dx 4/3/2015, IDC, Left, 2cm, Stage IIA, Grade 1, 0/3 nodes, ER+/PR+, HER2- (FISH) Dx 4/27/2015, IDC, Right, 1cm, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 6/1/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right Surgery 6/1/2015 Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 8/28/2015 Reconstruction (left): Fat grafting, Silicone implant; Reconstruction (right): Fat grafting, Silicone implant Surgery 12/4/2015 Reconstruction (left): Fat grafting, Nipple reconstruction; Reconstruction (right): Fat grafting, Nipple reconstruction
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Feb 25, 2016 05:40PM barbe1958 wrote:

I had an VUS on my BRCA2 gene a number of years ago. I wonder if they've come up with more information on it....how would I find out? I had it done after my initial surgery as my daughter and sister wanted to know.

Dx 12/10/2008, IDC: Papillary, Left, 1cm, Stage IB, 2/5 nodes, ER+/PR+, HER2- Surgery 12/16/2008 Lymph node removal: Left, Sentinel; Mastectomy: Left, Right Dx 2/4/2016, IDC: Papillary, Left, Stage IV, ER+/PR+, HER2- Hormonal Therapy 2/11/2016 Arimidex (anastrozole) Radiation Therapy 2/17/2016 Whole-breast: Lymph nodes, Chest wall
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Feb 25, 2016 05:46PM Angtee15 wrote:

Hi ladies! I checked my Ambry report and it says "this alteration is predicted to be probably damaging and deleterious by Polyphen and SIFT in silico analyses." I need to circle back with the genetic counselor because she made it sound like this was probably nothing while this sounds like it's not the case. Hmmm. Color me confused.

Thanks for your input! I am going with the BMX regardless but I will make sure I understand my report. I hope you are well!

Dx 11/9/2015, IDC, Left, 2cm, Stage IIA, Grade 3, 0/4 nodes, ER-/PR-, HER2- Chemotherapy 12/6/2015 Adriamycin (doxorubicin), Carboplatin (Paraplatin), Cytoxan (cyclophosphamide), Taxol (paclitaxel) Surgery 5/11/2016 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
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Mar 1, 2016 01:35PM kleigh1 wrote:

I've received results from genetic testing that say I have a "variant of unknown significance" for BRCA2. I'm getting annual MRI screenings now for my breasts, and so far, so good. I'm more worried about the increased risk for ovarian cancer, which feels even scarier to me. I'm 40, and my gynecologist says that we shouldn't consider removing my ovaries until I'm 45. Instead, she's recommended I go on microgestin (the birth control pill) to "suppress" my ovaries and decrease the chances for any abnormal growth. Has anyone heard of this has a strategy? Also, aren't there conflicting reports about microgestin increasing breast cancer risk? Do I have to choose between protecting my ovaries and protecting my breasts? I appreciate any info you have.

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Mar 1, 2016 02:02PM Moderators wrote:

Dear kleigh1, Welcome. We hope that you will find some answers and information here. You have joined a well informed and supportive community. We are glad that you reached out. For you and anyone else who is reading here we have posted a survey:

Survey on Genetic Testing

https://www.surveymonkey.com/r/testinggenetics

If you've been diagnosed with breast cancer or have a family history of the disease, you may have considered or undergone genetic testing to learn if you have a BRCA1, BRCA2, or other genetic mutation linked to a higher risk of breast cancer.

We'd like to understand more about you and your thought processes as you made the decision to have or not have genetic testing.

Thank you for completing the survey. We will compile the results and share them with the community!

Also, please private message us with any feedback or questions you have regarding our survey!

The Mods

To send a Private Message to the Mods: community.breastcancer.org/mem...
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Mar 1, 2016 02:14PM Hopeful82014 wrote:

Barbe, you could contact the genetic counselor who initiated your earlier testing, if available, for an update. Otherwise, I'd try contacting the testing lab.

My testing was done through Myriad and showed one deleterious PALB2 mutation and another gene with a VUS. Unfortunately, unlike Ambry, they don't list the Polyphen or SIFT results, either.

Dx IDC
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Mar 1, 2016 04:36PM barbe1958 wrote:

I might do that hopeful....

Dx 12/10/2008, IDC: Papillary, Left, 1cm, Stage IB, 2/5 nodes, ER+/PR+, HER2- Surgery 12/16/2008 Lymph node removal: Left, Sentinel; Mastectomy: Left, Right Dx 2/4/2016, IDC: Papillary, Left, Stage IV, ER+/PR+, HER2- Hormonal Therapy 2/11/2016 Arimidex (anastrozole) Radiation Therapy 2/17/2016 Whole-breast: Lymph nodes, Chest wall
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Mar 2, 2016 04:32PM ShetlandPony wrote:

Kleigh1, if I were you I would get an opinion from a cancer genetics expert, and ask that doctor, your oncologist (or whoever is monitoring you with breast MRIs), and your gynecologist to consult together about your particular case. Or you could go to a big cancer center where all these specialists are already gathered, for a second opinion. I had BRCA testing a few years ago. At that time the cancer genetics doctor gave me a paper with National Comprehensive Cancer Network guidelines. It shows for BRCA2 a 20% lifetime risk of ovarian cancer, which is termed high risk. For this group it says, "Removal of ovaries and fallopian tubes, upon completion of childbearing, ideally by age 35 to 40 or, otherwise: Transvaginal ulatrsound & CA-125 blood test every 6 mo." I don't know if this applies to your mutation, or if there have been any changes to the guidelines. But I would not rely just on the gynecologist's opinion.

Barbe, I agree with Hopeful. The lab that did your genetic testing can probably run your results through their system to check for updates. I think it is called re-curating.

2011 Stage I ILC ER+PR+ Her2- 1.5 cm grade 1, ITCs sn . Lumpectomy, radiation, tamoxifen. 2014 Stage IV ILC ER+PR+Her2- grade 2, mets to breast , liver. Taxol NEAD. 2015,2016 Ibrance+letrozole. 2017 Faslodex+Afnitor; Xeloda. 2018,2019 Xeloda NEAD
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Mar 2, 2016 08:53PM - edited Mar 2, 2016 09:14PM by BarredOwl

Kleigh1:

Your question is a good one. I agree that you would do well to obtain a second opinion along the lines suggested by ShetlandPony.

If you did not receive Genetic Counseling services upon receipt of your test results, as part of your second opinion, please also arrange for Genetic Counseling to ensure that you understand the nature of your specific mutation.

You said you have a "variant of unknown significance" or "VUS" for BRCA2. The definition of "VUS" can vary, so you should obtain a complete copy of your test results for your records, determine how "VUS" was defined by your testing company, and see what information they provided to you about the specific "VUS" identified.

The level of risk associated with uncommon or never-before-seen variants in a gene often has not been determined, and so the risk is therefore "unknown". In general, a VUS might be pathogenic or not pathogenic. It is not known which it is. It could be pathogenic (harmful) and confer a risk of cancer, and if so, the actual amount of risk conferred may be relatively lower, the same, or higher than the risk associated with other known pathogenic mutations in the same gene . . . OR it could be non-pathogenic with no material affect on risk of cancer. Again, it is not known at this time whether it is either okay or bad to have it. Per NCCN guidelines on Genetic/Familial High-Risk Assessment: Breast and Ovarian (Professional Version 1.2016):

"Another counseling dilemma is posed by the finding of a variant of unknown significance (VUS) (see Table 2), a genetic alteration that may actually represent a benign polymorphism [genetic variation] unrelated to an increased breast cancer risk or may indicate an increased breast cancer risk. The individual must be counseled in such a situation, because additional information about that specific mutation will be needed before its significance can be understood."

It is my layperson's understanding that in the more typical case (i.e., absent significantly concerning personal medical and/or family history which could separately warrant action), a true "variant of unknown significance" is not "actionable" and prophylactic surgeries may not be warranted. This is because a "VUS" might not be pathogenic at all. It may later be determined that the VUS is not harmful, so prophylactic surgery may not be needed. Unfortunately, until additional information becomes available so that the VUS can be "re-classified" (e.g., as benign or pathogenic), the difficulty is that the actual situation is not clear (one may or may not be incurring risk). This complexity is also why Genetic Counseling is recommended under current guidelines.

Different testing companies may have more or less information about specific variants, and this is not always publicly available. On occasion, a more experienced team at a center of excellence may sometimes have access to some additional information about a particular VUS from experience with other patients or testing services.

Those interested in the guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian (Professional Version 1.2016) should obtain the latest update from www.nccn.org (free with Registration). The charts up front have been updated, and the text in the second half is under revision. They can be difficult to understand, and you should always confirm your understanding with a professional familiar with the guidelines by the nature of their practice (i.e., not your ordinary OB/GYN).

The above is for information only, and may contain errors of fact or understanding. Please confirm all information above with an expert professional in light of your specific test 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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Mar 3, 2016 12:33AM ShetlandPony wrote:

Yes, thank you, BarredOwl for emphasizing the importance of genetic counseling, and of asking the expert whether any guidelines even apply to your case.

2011 Stage I ILC ER+PR+ Her2- 1.5 cm grade 1, ITCs sn . Lumpectomy, radiation, tamoxifen. 2014 Stage IV ILC ER+PR+Her2- grade 2, mets to breast , liver. Taxol NEAD. 2015,2016 Ibrance+letrozole. 2017 Faslodex+Afnitor; Xeloda. 2018,2019 Xeloda NEAD
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Mar 3, 2016 03:02AM Traveltext wrote:

Experts aren't very helpful when you have a variation of unknown significance. I have a BRCA 1 variation and nobody has a clue whether it amounts to anything apart from saying "well you have bc so it may have been the cause". 


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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Mar 3, 2016 06:33AM barbe1958 wrote:

I agree with Traveltext, the experts had nothing significant to say about my VUS. Except to watch for melanoma....but they said that was due to the breast cancer in the first place.

Dx 12/10/2008, IDC: Papillary, Left, 1cm, Stage IB, 2/5 nodes, ER+/PR+, HER2- Surgery 12/16/2008 Lymph node removal: Left, Sentinel; Mastectomy: Left, Right Dx 2/4/2016, IDC: Papillary, Left, Stage IV, ER+/PR+, HER2- Hormonal Therapy 2/11/2016 Arimidex (anastrozole) Radiation Therapy 2/17/2016 Whole-breast: Lymph nodes, Chest wall
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Mar 3, 2016 12:15PM - edited Jan 7, 2017 06:32PM by BarredOwl

Hi:

Your experience illustrates the point: The fact that experts may know nothing about a variant of unknown significance is exactly why a second opinion is in order for kleigh1.

For the reasons noted in my post above, if a person with a VUS has received advice to pursue prophylactic surgery, an expert second opinion is advisable and may indeed be illuminating, because it may not confirm the advice received.

I should add that there is a second guideline available at www.NCCN.org, also recently updated, entitled "Breast Cancer Risk Reduction" (Version 1.2016). Because any particular recommendation may or may not apply in the particular case, it is important to always confirm your understanding with a professional familiar with the guidelines by the nature of their practice and familiar with the details of your situation.

As I mentioned above, the estimated lifetime risk associated with a known pathogenic mutation in any particular gene, such as BRCA2, may vary depending on the particular pathogenic mutation and on the particular type of cancer in question. With regard to ovarian cancer, per the NCCN guideline "Breast Cancer Risk Reduction" (Version 1.2016) notes (BRCA2 range in bold):

"Although the risk for ovarian cancer is lower than the risk for breast cancer in a BRCA1/2 mutation carrier (eg, estimated lifetime risks of 36%–46% and 10%– 27% in BRCA1 and BRCA2 mutation carriers, respectively (89,99-102)."

The lifetime risk, IF ANY, associated with a VUS is unknown. This concept is a challenge for patients and clinicians alike, who very naturally tend to attribute a cancer diagnosis to a VUS, despite the possibility that the VUS may possibly be a neutral variant (also called "nonpathogenic," "of no clinical significance," or "benign").

Robson (2015) ASCO Policy Statement: "ASCO Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility": http://ascopubs.org/doi/abs/10.1200/JCO.2015.63.0996

"VUSs are alterations in the genetic code that may or may not affect the function of the protein. VUSs are more common in broad-panel testing both because of the number of genes tested and because of the limited understanding of the range of normal variation in some of these genes. It is usually inappropriate to change the clinical management of a patient based on the finding of a VUS. Unfortunately, there is some evidence that clinicians may overinterpret VUSs and make recommendations that should be reserved for individuals with clearly deleterious mutations."

For more information about variants of unknown significance and the complex issues and challenges they present in clinical practice, these articles in the BRCA area can be instructive. I would venture to say that many everyday medical professionals are not familiar with this body of literature.

Eccles ENIGMA (2015) pdf: http://annonc.oxfordjournals.org/content/26/10/205...

Cheon (2014): http://link.springer.com/article/10.1186%2Fs13073-...

Lindor (2013): http://theoncologist.alphamedpress.org/content/18/...

This is an extremely complex and highly specialized area. These articles are for information only and are not a substitute for current, case-specific expert professional medical / genetic advice regarding any specific VUS in any specific gene, in the context of your personal medical and family history.



BarredOwl

[EDITED to update link to ASCO policy statement]

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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Mar 3, 2016 02:32PM ShetlandPony wrote:

And an expert opinion on clinical management can can include recommendations about appropriate surveillance.

2011 Stage I ILC ER+PR+ Her2- 1.5 cm grade 1, ITCs sn . Lumpectomy, radiation, tamoxifen. 2014 Stage IV ILC ER+PR+Her2- grade 2, mets to breast , liver. Taxol NEAD. 2015,2016 Ibrance+letrozole. 2017 Faslodex+Afnitor; Xeloda. 2018,2019 Xeloda NEAD
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Mar 3, 2016 03:29PM BarredOwl wrote:

Agreed. The two NCCN guidelines cited above address enhanced surveillance and risk reduction strategies in the appropriate case. To complicate things further, with respect to surveillance, in certain instances, those guidelines refer one to yet a third NCCN guideline: "Guidelines for Breast Cancer Screening and Diagnosis" (Version 1.2015).

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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Mar 3, 2016 03:43PM Metta wrote:

I had a VUS on the ATM gene, and GeneDx said DO NOT base any medical decisions on that. My genetic counselor and doctor agreed that I should not consider the variant when deciding what type of surgery to have. As it turned out, I had to have a mastectomy on one side and decided to just have a prophylactic mastectomy at the same time. I'm not sure what the right decision was, but I didn't want to deal with years of anxiety, MRIs, etc.

I registered in in the Prompt study, which helps researchers gather more information about variants: https://promptinfo.squarespace.com


Dx 10/7/2014, IDC, 2cm, Stage IIB, Grade 2, ER+/PR+, HER2+ Chemotherapy 11/11/2014 AC Chemotherapy 1/7/2015 Taxol (paclitaxel) Targeted Therapy 1/8/2015 Perjeta (pertuzumab) Targeted Therapy 1/8/2015 Herceptin (trastuzumab) Surgery 4/16/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right; Prophylactic mastectomy: Left
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Mar 6, 2016 07:03PM Rambros wrote:

My genetic counselor gave me a website to check the status of gene variants...clinvar.com (only companies that share their information will be included. Myriad, for example, does not share their information)

Dx 10/8/2014, IDC, Left, 3cm, Stage IIB, Grade 3, 1/10 nodes, ER+/PR+, HER2- (FISH) Surgery 11/16/2014 Mastectomy: Left; Prophylactic mastectomy: Right Chemotherapy 1/5/2015 AC + T (Taxol) Radiation Therapy Lymph nodes, Chest wall Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone), Zoladex (goserelin) Surgery Prophylactic ovary removal Hormonal Therapy Femara (letrozole)
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Mar 7, 2016 07:50AM barbe1958 wrote:

Boys2 I tried to get info off that link, but as we are patients with UNknown varianats, it's hard to check to see what no one knows! LOL

Dx 12/10/2008, IDC: Papillary, Left, 1cm, Stage IB, 2/5 nodes, ER+/PR+, HER2- Surgery 12/16/2008 Lymph node removal: Left, Sentinel; Mastectomy: Left, Right Dx 2/4/2016, IDC: Papillary, Left, Stage IV, ER+/PR+, HER2- Hormonal Therapy 2/11/2016 Arimidex (anastrozole) Radiation Therapy 2/17/2016 Whole-breast: Lymph nodes, Chest wall
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Mar 7, 2016 08:54AM Rambros wrote:

There is nothing new for my variant either on that website, just wanted to share it. The genetic counselor I met with (at a NCI cancer center)said that most VUS's (90% I think) end up classified as benign. Hope that is true!

Dx 10/8/2014, IDC, Left, 3cm, Stage IIB, Grade 3, 1/10 nodes, ER+/PR+, HER2- (FISH) Surgery 11/16/2014 Mastectomy: Left; Prophylactic mastectomy: Right Chemotherapy 1/5/2015 AC + T (Taxol) Radiation Therapy Lymph nodes, Chest wall Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone), Zoladex (goserelin) Surgery Prophylactic ovary removal Hormonal Therapy Femara (letrozole)
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Mar 7, 2016 04:45PM Traveltext wrote:

Agree with barbe1958, that's such a confusing site. When I feel like checking on the latest status of my BRCA1 VUS, I just Google it. Nothing has shown up to date!



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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Mar 8, 2016 08:27AM SummerAngel wrote:

Just out of curiosity, do any of you with a VUS have that VUS noted in a study or studies on clinvar? Mine has a total of 3 submissions, one by GeneDx, one by Ambry, and one by a study on women with ovarian cancer. One woman in the study had my VUS.

Age at dx: 45. Oncotype, left-side tumor: 9. Right side had multifocal IDC and "extensive" LCIS. Isolated tumor cells in 1 right-side node. Dx 4/3/2015, IDC, Left, 2cm, Stage IIA, Grade 1, 0/3 nodes, ER+/PR+, HER2- (FISH) Dx 4/27/2015, IDC, Right, 1cm, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 6/1/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right Surgery 6/1/2015 Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 8/28/2015 Reconstruction (left): Fat grafting, Silicone implant; Reconstruction (right): Fat grafting, Silicone implant Surgery 12/4/2015 Reconstruction (left): Fat grafting, Nipple reconstruction; Reconstruction (right): Fat grafting, Nipple reconstruction
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Mar 8, 2016 09:06AM Rambros wrote:

my VUS only has 1 submission, by Ambry in 2014. No studies listed

Dx 10/8/2014, IDC, Left, 3cm, Stage IIB, Grade 3, 1/10 nodes, ER+/PR+, HER2- (FISH) Surgery 11/16/2014 Mastectomy: Left; Prophylactic mastectomy: Right Chemotherapy 1/5/2015 AC + T (Taxol) Radiation Therapy Lymph nodes, Chest wall Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone), Zoladex (goserelin) Surgery Prophylactic ovary removal Hormonal Therapy Femara (letrozole)
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Mar 8, 2016 10:01AM SummerAngel wrote:

Thanks, Boys62! I find all of this genetic stuff very fascinating.

Age at dx: 45. Oncotype, left-side tumor: 9. Right side had multifocal IDC and "extensive" LCIS. Isolated tumor cells in 1 right-side node. Dx 4/3/2015, IDC, Left, 2cm, Stage IIA, Grade 1, 0/3 nodes, ER+/PR+, HER2- (FISH) Dx 4/27/2015, IDC, Right, 1cm, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 6/1/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right Surgery 6/1/2015 Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 8/28/2015 Reconstruction (left): Fat grafting, Silicone implant; Reconstruction (right): Fat grafting, Silicone implant Surgery 12/4/2015 Reconstruction (left): Fat grafting, Nipple reconstruction; Reconstruction (right): Fat grafting, Nipple reconstruction
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Mar 6, 2018 11:10AM DandelionHair wrote:

I have a VUS BRCA 2.

I was told to not worry, it was an unknown variant. I'm in Chemo treatment for stage 2, invasive Breast Cancer My younger sister has the same variant with no cancer except skin. Relatives have a history of Cancer and all have had skin cancer I hope to follow this thread to learn more about the variant of unknown significance gene.

Thank you
Dx 7/10/2017, IDC, Right, 2cm, Stage IIA, Grade 2, 0/1 nodes, ER+/PR-, HER2- (FISH) Surgery 8/15/2017 Lumpectomy: Right Chemotherapy 9/19/2017 AC + T (Taxotere) Radiation Therapy 3DCRT: Breast Hormonal Therapy Arimidex (anastrozole) Radiation Therapy 3DCRT: Breast Surgery Lumpectomy: Right; Lymph node removal: Right, Sentinel, Underarm/Axillary; Reconstruction (right)
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Mar 6, 2018 04:14PM Traveltext wrote:

Thinking101, you’re in the same boat as me, only I have a VUS of BRCA 1. I’d suggest we might be waiting years to have our variations proven to be something since there are thousands of variations yet to be determined.


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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Mar 6, 2018 06:12PM - edited Mar 7, 2018 02:59PM by besa

http://www.lerner.ccf.org/gmi/research/pten.php

This is not an answer to you question but possibly a way to at least put a PTEN VUS on the table to be studied and further research on this topic. A genetic counselor would be needed to help become part of this Cleveland Clinic study. Just a possible option if you are interested....

Dx 2007, IDC, 2cm, Stage IIA, Grade 1, 0/1 nodes, ER+/PR+, HER2-
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Mar 7, 2018 10:00AM JuniperCat wrote:

I have a VUS of BRCA2 and am enrolled in the PROMPT study. Here is the link if anyone is interested:

prompt.patientcrossroads.org/

Dx 2015 stage 1A IDC 1.5cm ER+ PR- HER2-
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May 2, 2018 02:51PM radmom27 wrote:

I just found out I have VUS of BARD 1. My counselor was very vague and just said they do not have any information on this mutation, only I can't be positive or negative. I was tested by Genpath.

Anyone else with BARD 1?

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May 23, 2018 09:19PM - edited May 26, 2018 07:14PM by sacchetti7

This Post was deleted by sacchetti7.

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