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Topic: Is it time for me to gene test again??

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: Oct 26, 2020 10:25AM - edited Oct 28, 2020 08:36AM by Jons_girl

Jons_girl wrote:

Hello. I'm hoping this isn't a stupid question. I was cancer gene tested in 2017 by myriad. The genes tested were: APC, ATM, BARD1, BMPR1A, BRCA1&2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM(large rearrangement only), MLH1, MSH2&6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C&D, SMAD4, STK11, TP53, and select regions for: POLE and POLD1. Large rearrangement for select regions of: GREM1.

My maternal gma had Breast cancer in her 60s. Then it came back in her 70s after she went off tamoxifen and begged her gyn for hormones. It went Mets and she died less than a year after starting hormones. My maternal great grma had colon cancer. My maternal great gpa died of lung cancer. My maternal aunt had breast cancer do two wks before my dx. Breast cancer on my paternal side of the family too.

A family member has been cancer gene tested by Invitae. Theyshowed a variant of a gene I wasn't tested for.

Is Invitae a better company to test with than Myriad??

Should I be retested since I wasn't tested for that gene?

Thank you in advance for your responses.

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 26, 2020 11:01AM Beesie wrote:

I'd suggest you talk to the genetic counselor who did your testing last time. The counselor should have an idea as to whether there is much new amongst the genes that you were tested for 3 years ago, and can discuss why you were given the panel test you had and whether a different panel (including the AXIN2 gene) might be preferable or not.

When I was first tested, way back in 2006, my genetic counselor suggested that I consider retesting in 5 years or more. I don't know whether there will be enough new to warrant retesting after only 3 years. But your genetic counselor should be able to advise on that.

Dx 9/15/2005 Right, 7cm+, DCIS-Mi, Stage IA, Gr 3, 0/3 nodes, ER+/PR- ** Dx 01/16/2019 Left, 8mm, IDC, Stage IA, Gr 2, 0/3 nodes, ER+/PR-, HER2- (FISH) ** Surgery 11/30/2005 MX Right, 03/06/2019 MX Left ** Hormonal Therapy 05/2019 Letrozole
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Oct 26, 2020 11:16AM Jons_girl wrote:

Thank you Beesie. My breast surgeons colleague is following me. She somehow got certified to be her patients genetic counselor. I was her first patient that she did the genetic counseling for. But I’ve wondered if I should have had a genetic counselor, not my doctor giving me advice on testing....but I can’t tell her, hey can I have a real genetic counselor? Lol. I don’t want to get her mad.

When my mom was tested through Invitae they tested I think over 80 genes. I was tested for like 28 or 30 genes. AXIN2 wasn’t tested on my panel in 2017. I can talk to my doctor. She has said I can test with Invitae if I want to. I’m not sure my insurance co would pay tho? But because my mom has a variant of a different gene maybe they would pay?

Thanks Beesie for your reply on my post.

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 26, 2020 02:12PM edj3 wrote:

I was tested at initial BC dx, then last year when I had an atypical leiomyoma removed from my arm, my MO recommended another round of genetic testing because that was a new factor. In both situations, we used Invitae.

Tried the tamoxifen, no thanks. Dx 4/9/2019, IDC, Left, <1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR+, HER2- (IHC) Surgery 5/5/2019 Lumpectomy; Lymph node removal: Sentinel Dx 5/6/2019, LCIS, Left, <1cm, 0/1 nodes Radiation Therapy 6/2/2019 Whole-breast: Breast Hormonal Therapy 9/22/2019 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Oct 26, 2020 03:57PM - edited Oct 26, 2020 03:59PM by exbrnxgrl

Jons_girl,

Several companies do genetic testing. Because of my ethnicity and family history I am tested every time a new mutation is found. So far, everything has been negative. I am a fan of genetic counseling not just because of explaining currently available testing but also it gave me a much more complete picture of what genetics can and cannot reveal and what the implications might be in the future. It was also required that I take a short online genetics class and meet with the counselor in person, twice. My last test was the Ambry panel which tested for 30 some odd mutations.

Bilateral mx 9/7/11 with one step ns reconstruction. As of 11/21/11, 2cm met to upper left femur Dx 7/8/2011, IDC, Left, 4cm, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Surgery 9/7/2011 Lymph node removal: Left; Mastectomy: Left, Right; Reconstruction (left); Reconstruction (right) Dx 11/2011, IDC, Left, 4cm, Stage IV, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Hormonal Therapy 11/21/2011 Arimidex (anastrozole) Radiation Therapy 11/21/2011 Bone Hormonal Therapy 6/19/2014 Femara (letrozole) Hormonal Therapy Aromasin (exemestane)
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Oct 26, 2020 10:17PM Jons_girl wrote:

Edj3: Thank you for sharing about your genetic testing. I do think Invitae may be a better company than Myriad. My mom had over 80 genes tested I believe. So I am considering testing again. There do seem to be more genes they are testing people for now.

exbrnxgrl: Thank you for sharing about your genetic testing. That is really cool they had you take a genetics class. That makes sense, I wonder why all genetic testing companies don't have their patients take a class?

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 27, 2020 12:23AM ShetlandPony wrote:

There is nothing wrong with wanting to see a real cancer genetics specialist. The nearest major cancer center should be able to help you.

2011 Stage I ITCs sn, premenopausal, Oncotype 16. 2014 Stage IV mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD Dx 2011, ILC, 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR+, HER2- Dx 2014, ILC, 2cm, Stage IV, metastasized to liver/other, Grade 2, ER+/PR+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy Whole-breast: Breast Surgery Lumpectomy
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Oct 27, 2020 12:11PM moth wrote:

So, are you guys suggesting that new germline mutations are showing up or that the tests themselves are better/bigger/test for more things?


Just trying to wrap my brain around this as I did not consider this at all.

I had Color in 2018 as recommended by my team due to age, maternal aunt dying of amorphic breast & ovarian ca in her 50s and my weak ER which was reclassified into triple neg. Nothing popped up on that test.

I take weekends off

Initial dx at 50. Seriously?? “Sometimes the future changes quickly and completely and we’re left with only the choice of what to do next." blog: Never Tell Me the Odds

Dx 12/2017, IDC, Left, 1cm, Stage IA, Grade 3, 0/5 nodes, ER-/PR-, HER2- (IHC) Surgery 12/12/2017 Lumpectomy: Left; Lymph node removal: Sentinel Chemotherapy 2/13/2018 AC + T (Taxol) Radiation Therapy 8/13/2018 Whole-breast: Breast Dx 2/2020, IDC, Stage IV, metastasized to liver/lungs, Grade 3, ER-/PR-, HER2- Chemotherapy 3/18/2020 Taxol (paclitaxel) Immunotherapy 3/18/2020 Tecentriq (atezolizumab) Chemotherapy 11/25/2020 Abraxane (albumin-bound or nab-paclitaxel) Radiation Therapy 12/8/2020 External Dx 12/9/2020, IDC, Right, Stage IV, metastasized to lungs, Grade 3, ER+/PR-, HER2- (IHC) Hormonal Therapy 12/15/2020 Femara (letrozole) Dx 1/28/2021, IDC, Left, Stage IV, metastasized to bone Radiation Therapy 3/2/2021 External: Bone
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Oct 27, 2020 12:33PM MelissaDallas wrote:

Most of the major testers contact you if there is any new information on things you have been previously tested for. Most importantly if new information is confirming that previously tested variations of unknown significznce are now showing to be problems.

LCIS, extensive sclerosing adenosis, TAH/BSO & partial omentectomy for mucinous borderline ovarian tumor. Dx 5/20/2012, LCIS, Stage 0, 0/0 nodes
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Oct 27, 2020 03:57PM exbrnxgrl wrote:

Jon’s girl,

It wasn’t the maker of the test that required the on online class and counseling. It was my health care system that did. They do a lot of patient education (they encourage members to take an active part in their own health).

Moth,I don’t think that genetic testing is better than years ago but clearly new mutations have been found. In 2011 I was tested for the BRCA genes and those were the only genes they were testing for at the time. As new genes that were linked to bc were discovered, I had those tests too. My last panel was by Ambry. It tested 30 some odd genes related to bc

Bilateral mx 9/7/11 with one step ns reconstruction. As of 11/21/11, 2cm met to upper left femur Dx 7/8/2011, IDC, Left, 4cm, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Surgery 9/7/2011 Lymph node removal: Left; Mastectomy: Left, Right; Reconstruction (left); Reconstruction (right) Dx 11/2011, IDC, Left, 4cm, Stage IV, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Hormonal Therapy 11/21/2011 Arimidex (anastrozole) Radiation Therapy 11/21/2011 Bone Hormonal Therapy 6/19/2014 Femara (letrozole) Hormonal Therapy Aromasin (exemestane)
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Oct 27, 2020 04:17PM Jons_girl wrote:

ShetlandPony: Thank you!

Moth: I am not being tested for ONLY breast cancer genes. I am doing the 80+ gene test by Invitae for alot of cancer genes. Actually Yes in my opinion they are finding some more connections to genes. There is a gene I wasn't tested for the first time I tested that is starting to turn the bend to be connected to breast cancer. New info online connecting it to breast cancer. It previously had been associated with colon cancer. Also there were genes when I tested in 2017 that I wasn't tested for. But Invitae tests for more genes in my opinion. And I am all for getting more information on genes I wasn't tested for the 1st time.

Melissa: Actually I called Myriad because my doctor had told me as I recall that I would be notified by the company if any new testing became available. But I asked Myriad that. They said NO we don't contact you. We will contact your doctors office. And I am thinking well is my doctors office REALLY going to call all their patients when more testing becomes available with all the hundreds of pts they have?? That doesn't seem realistic to me. Myriad hasn't ever contacted me and they won't according to what I was told. Invitae may? So I will ask them if they contact their patients directly.

exbrnxgrl: Wow that is neat that the health care system had you take that class. Genetic counseling seems to happen always with doctors offices. But the class is cool! All health systems should require that!

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 27, 2020 04:54PM moth wrote:

so I went off to read up on this.

fyi, here is a handy website that compares all the companies (well all the ones I've heard of and some I haven't lol).

Towards the bottom of the page there's a link to the comparison chart where you can compare what they each have. Multipanel Invitae is up to 37 per panel but is customizable.

https://www.exploreyourgenetics.org/how-to-get-tes...


I take weekends off

Initial dx at 50. Seriously?? “Sometimes the future changes quickly and completely and we’re left with only the choice of what to do next." blog: Never Tell Me the Odds

Dx 12/2017, IDC, Left, 1cm, Stage IA, Grade 3, 0/5 nodes, ER-/PR-, HER2- (IHC) Surgery 12/12/2017 Lumpectomy: Left; Lymph node removal: Sentinel Chemotherapy 2/13/2018 AC + T (Taxol) Radiation Therapy 8/13/2018 Whole-breast: Breast Dx 2/2020, IDC, Stage IV, metastasized to liver/lungs, Grade 3, ER-/PR-, HER2- Chemotherapy 3/18/2020 Taxol (paclitaxel) Immunotherapy 3/18/2020 Tecentriq (atezolizumab) Chemotherapy 11/25/2020 Abraxane (albumin-bound or nab-paclitaxel) Radiation Therapy 12/8/2020 External Dx 12/9/2020, IDC, Right, Stage IV, metastasized to lungs, Grade 3, ER+/PR-, HER2- (IHC) Hormonal Therapy 12/15/2020 Femara (letrozole) Dx 1/28/2021, IDC, Left, Stage IV, metastasized to bone Radiation Therapy 3/2/2021 External: Bone
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Oct 27, 2020 05:14PM Jons_girl wrote:

Moth: Thank you for sharing the comparable chart, that is great info! It does look like Invitae has a multi cancer panel of 84 genes however. So I am not sure if that chart is a little behind current stats or what? Here is the link to the 84 gene panel: https://www.invitae.com/es/physician/tests/01101/

Thanks for sharing that info! it is good for people to know their options! It does look like Invitae is the best option regarding amount of genes tested. But that is just my opinion looking at the chart. Lots of companies now testing though! Wow!


Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 27, 2020 05:33PM - edited Oct 28, 2020 01:21AM by ShetlandPony

Thanks for that link comparing panels moth.

Besides looking at a different number of genes or at different genes, tests may differ in which variants of a gene they include. So an inexpensive mail-order kit may only look at the few most common variants in BRCA, for example, while the panel your genetics specialist orders may cover many more variants of BRCA. This could make the difference between missing or finding the one in a particular family.

As I understand it, two reasons to ask about retesting every so often are these:

First, more information may become available regarding what was a variant of unknown/uncertain significance. It may have been shown to be deleterious or benign.

Second, new genes may be added to a panel, as in the case Jons_girl mentions. Or they ought to be added to the panel, but must be done as custom add-on (see below).

You are talking about a Lynch gene, aren't you, Jons_girl? I have a mutation in one of them and so does my first-degree relative who also got a breast cancer diagnosis of ILC. So far out of seven family members tested in the past few years, four of us have the mutation. We are taking, as appropriate for each of us, prevention and screening action for breast cancer as well as other cancers associated with this mutation (colon, endometrial, and several others). This experience demonstrates the need to have a genetic counselor look at all the cancers in the family tree, not just breast cancer, since the cancers could be related to the same gene. The person who passed the mutation down in our family had colon cancer, not breast cancer. It also demonstrates that the list of cancers thought to be related to particular gene mutations can change. In 2015 my genetics specialists denied any connection of Lynch genes to breast cancer, but now my relative's counselor at another large institution says there is certainly a connection with at least a couple of them. (Eventually I'll get a chance to see what position my genetics doc takes these days.)

Regarding re-testing, when I was tested (only) for BRCA mutations in 2012, the genetics doc told me I could check back once in a while; he did not say that anyone would contact me. I do not recall how often I was to check.

2011 Stage I ITCs sn, premenopausal, Oncotype 16. 2014 Stage IV mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD Dx 2011, ILC, 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR+, HER2- Dx 2014, ILC, 2cm, Stage IV, metastasized to liver/other, Grade 2, ER+/PR+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy Whole-breast: Breast Surgery Lumpectomy
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Oct 28, 2020 12:30AM Jons_girl wrote:

shetlandpony: what is a lynch gene? Sorry I’m not real knowledgeable about gene testing

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 28, 2020 01:11AM - edited Oct 28, 2020 01:17AM by ShetlandPony

The Lynch syndrome genes are the mismatch repair genes MLH1, MSH2, MSH6, and PMS2; and the related gene EPCAM. Lynch syndrome used to be called HNPCC (hereditary nonpolyposis colorectal cancer). The list of cancers — some substantial increased risk and some small increased risk — includes colon, stomach, small intestine, liver, gallbladder ducts, unitary tract, brain, skin, ovaries, endometrium; and according to mounting evidence, breast cancer.

You asked whether you should be tested for a variant that your mom has. Is it suspected or known to be a harmful one? If so, the guidelines would say you should be tested for it.

2011 Stage I ITCs sn, premenopausal, Oncotype 16. 2014 Stage IV mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD Dx 2011, ILC, 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR+, HER2- Dx 2014, ILC, 2cm, Stage IV, metastasized to liver/other, Grade 2, ER+/PR+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy Whole-breast: Breast Surgery Lumpectomy
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Oct 28, 2020 08:22AM - edited Oct 28, 2020 08:22AM by MountainMia

ShetlandPony said:

"As I understand it, two reasons to ask about retesting every so often are these:

"First, more information may become available regarding what was a variant of unknown/uncertain significance. It may have been shown to be deleterious or benign.

"Second, new genes may be added to a panel, as in the case Jons_girl mentions. Or they ought to be added to the panel, but must be done as custom add-on (see below)."

I think there is another reason to be re-tested or not. Would testing have any impact on how you are treated, or how any close relative is treated? If not, there is probably no reason to be re-tested, IMO.

The rain comes and the rain goes, but the mountain remains. I am the mountain.
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Oct 28, 2020 08:46AM Jons_girl wrote:

Shetlandpony:No the gene I’m referring to is the AXIN2 gene. It’s been associated with colon cancer. But now I’m seeing new info associating it with breast cancer.

Mountainmia: Yes that would be another reason to test.

For me,I think that stuff keeps changing in the breast cancer research. Like my breast cancer surgeon told me in 2017, they are learning new stuff, unlearning stuff,and there is still a lot they don’t know yet. So I figure I should be retesting maybe every 5-10 yrs as new genes are connected to cancer. It’s info I want to know. But not everyone is like me. And that’s completely ok!

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel
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Oct 28, 2020 10:04AM Beesie wrote:

Shetland, I have a VUS in MLH3. MLH3 has a weaker link to Lynch Syndrome that MLH1 but there may be a connection. And of course since I have a VUS, it means that this mutation may or may not have any significance. So I'm two steps removed from Lynch Syndrome, but more information about MLH3 might change that.

MountainMia, to your question, "Would testing have any impact on how you are treated, or how any close relative is treated? If not, there is probably no reason to be re-tested, IMO." I think the answer is always "Yes", should the individuals choose to do something with the information about mutations found in the family. It may not be specific to breast cancer but could be related to another type of cancer or another illness. But it's a question of whether or not someone wants to know and then, whether or not they want to take action through increased screenings or by taking preventative action. That's the catch. A lot of people don't want to know and/or don't want to do anything extra. Sometimes ignorance is bliss; it depends on the individual. Genetic testing certainly can open a can of worms.

For example, I was initially tested only for BRCA mutations. Then I had a full panel, which at the time was about 20 genes. Then I participated in a clinical trial where I was tested for 151 cancer genes. I found out about my VUS, and one additional positive mutation, through this 3rd round of testing. At this point there isn't enough known about the VUS to change anything, particularly since the MLH3 gene is only weakly linked to Lynch Syndrome. But should more information on this come out, that could mean a different schedule of screenings for various cancers, and genetic testing would be recommended for family members to ensure that if they too have the mutation, they get proper screenings. My one positive mutation is an interesting one in that although it is a cancer mutation, it isn't connected to any cancers in the family (and there are a lot of cancers in my family). But there are other conditions that this mutation can drive (although rarely), and the discovery that I have this mutation may have solved a mystery about a serious health condition of one of my siblings, who is now being tested for this mutation. This could have significant implications for others in the family, in terms things to look out for with standard blood work screenings and possible (and fortunately quite easy) preventative actions. With this mutation, because the incidence of this illness is rare, the genetic counselors and doctors are as interested in us (myself and my sibling) as we are interested in finding out more about the mutation and our possible risks. So while this is all more than a bit disconcerting, I feel that I am doing something to advance knowledge and maybe help others who have this same mutation. But I can easily see why a lot of people would prefer to not get caught up in this uncertainty.

Dx 9/15/2005 Right, 7cm+, DCIS-Mi, Stage IA, Gr 3, 0/3 nodes, ER+/PR- ** Dx 01/16/2019 Left, 8mm, IDC, Stage IA, Gr 2, 0/3 nodes, ER+/PR-, HER2- (FISH) ** Surgery 11/30/2005 MX Right, 03/06/2019 MX Left ** Hormonal Therapy 05/2019 Letrozole
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Oct 28, 2020 10:23AM edj3 wrote:

This is a bit of a repeat, with additional details and context.

MountainMia, here's more behind why I got tested twice.

For the first round,I got tested for everything currently available at the time of my dx because in addition to the breast cancer, I'd already been diagnosed w/ melanoma. I wanted to know if there were any surprises lurking in my genes that my sons and their kids would need to know about. My results were as benign as they could be.

When I got the second round of testing about six months ago, it was because I was diagnosed w/ an atypical leiomyoma and then further testing showed I have a couple of dinky tumors (not cysts) on my right kidney. Atypical leiomyomas are not usually found on the arm and are associated with kidney cancer. Sometimes kidney cancer can be traced to a genetic issue. But as with the first round, my second round of genetic testing showed nothing.

The only reason I would get more testing down the road is if something actually changed in my condition, and the purpose would be to give my sons the most complete picture of what they might need to watch for in themselves and their children.

Tried the tamoxifen, no thanks. Dx 4/9/2019, IDC, Left, <1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR+, HER2- (IHC) Surgery 5/5/2019 Lumpectomy; Lymph node removal: Sentinel Dx 5/6/2019, LCIS, Left, <1cm, 0/1 nodes Radiation Therapy 6/2/2019 Whole-breast: Breast Hormonal Therapy 9/22/2019 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Oct 28, 2020 04:54PM - edited Oct 28, 2020 04:56PM by ShetlandPony

MountainMia, of course the reason you give — in case the results would influence treatment — is one of the main reasons to get tested in the first place. That along with helping yourself and family members plan for appropriate screening and prevention. The reasons to get re-tested have to do with new information and updates to the testing. A new cancer might mean looking at additional genes than before, as edj3 did.

Finding a VUS has got to be difficult, which is one reason genetic counselors should be involved. At the very least it can help advance the science. Maybe some day, with more data, TravelText's son will qualify for the same extra screening his daughter qualifies for, being female. His mom had bc, he had bc and prostate cancer, and yet so far the BRCA mutation identified is considered a VUS. Beesie, I suppose you know about this site:

https://www.mycancergenome.org/content/gene/mlh3/

Do I understand correctly that it may help your family members to prevent a problem to know if they have that other gene mutation? Will it help your symptomatic sibling to know?

Some people only want to know about mutations that they can do something about. For example, if you know you have a Lynch mutation, you can do early and frequent colonoscopies and actually prevent colon cancer by removing any polyps, or have hysterectomy because of the high risk of endometrial cancer with certain Lynch mutations. And everyone knows about prophylactic surgery where there is a deleterious BRCA mutation. I asked a relative, "If I ever found out about a genetic mutation, would you want to know?" When the answers was yes, I told what had been found, and they got tested, consulted with genetics experts, and chose to take strong steps. They are not going to end up like me if we can help it! On the other hand, another relative who is older felt strongly that they did not want to have the full panel and possibly find out any more bad news, and declines colonoscopies for the known mutation. If I had been tested for more than just BRCA in 2012, and found out I have an increased risk of ovarian cancer from that Lynch mutation, it would have been the last straw to make me elect oophorectomy as part of my breast cancer treatment, and maybe I would not be in the position I am today with metastatic bc. (For several reasons I thought I was at higher risk than the oncologists did.)

2011 Stage I ITCs sn, premenopausal, Oncotype 16. 2014 Stage IV mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD Dx 2011, ILC, 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR+, HER2- Dx 2014, ILC, 2cm, Stage IV, metastasized to liver/other, Grade 2, ER+/PR+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy Whole-breast: Breast Surgery Lumpectomy
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Dec 5, 2020 08:25AM Jons_girl wrote:

I am gene testing again. Have appt virtually on Monday with genetic counselor. Different health system then I used last time. I am going to request to test through invitae this time. Will see how it goes. Will try to update on this thread post testing. Hope you all have a great weekend. Boy this year has been so strange. Covid has changed our world. It’s nuts

Breast cancer at age 49. Felt tumor. Wasn’t caught on mammo even after feeling tumor. Ultrasound caught my cancer. Dx 6/2017, IDC, Left, <1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- (FISH) Surgery 7/5/2017 Lumpectomy: Left; Lymph node removal: Sentinel

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