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Topic: comments requested about Genetic Testing

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: Jan 30, 2021 08:33PM

Scubasmurf1 wrote:


My sister was recently diagnosed with breast cancer. I think my next step is to obtain genetic testing. I am interested in hearing from people who have already gone through genetic testing. What was your experience? Which tests did you take? What was the result of your tests and what treatment plans did you take?

Many thanks for your input. I am 66 years old and my sister is 75 years old.


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Jan 30, 2021 08:50PM moth wrote:

In case you haven't seen it yet, BCO has a large section on genetic testing: types, pros, cons & family implications etc

I had Color Genomics done when I was diagnosed. The test itself is simple - you literally spit in a cup. I had mine done through my cancer treatment center and I had an appointment with a genetics counsellor before and after sending away the kit.

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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Jan 30, 2021 09:30PM SimoneRC wrote:

Hi Martha,

I am so sorry to hear about your sister's breast cancer diagnosis. The average age of breast cancer diagnosis in women is reported by Komen to be 62. I think when I diagnosed at age 51 my surgical oncologist told me the average age was 64. Only about 10% of female breast cancers are found to be linked to a genetic mutation.

After reviewing my extensive personal family history of cancer and my young age at diagnosis of breast cancer genetic testing was recommended by my surgical oncologist and approved by my health insurance company. My first time genetic testing was done via a simple vein puncture blood draw. My second three times genetic testing was done via saliva sample into a tube. The full breast panel, as I recall, was $5,000. Mine was covered by insurance as my risk profile was high.

I did have a pathogenic gene mutation. Most people do not. Please do not put the cart before the horse. Most post menopausal breast cancer diagnosis are not related to genetic mutations.

Was your sister diagnosed with a genetic mutation? Do you have a strong family history of breast cancer? Do you have a strong family history of pre menopausal breast cancer? Do you have a strong family history of other cancers? Do you have a history of suspicious abnormalities in your breasts?

If the answers to the above questions are no, even if your doctor referred you for testing, your insurance most likely would not cover the cost of the test.

I know this must be a scary time for your sister, you and your family. I hope you get to discuss this with your docs. And if you do get genetic testing, and if you wind up having a mutation there are lots of resources here, other organizations such as FORCE, and many great genetic counselors and genetic oncologists out there.

Good luck to your sister! Having family support is so important for people dealing with cancer. She's lucky to have you on her side!

ATM Gene Mutation, Deletion. IDC w/Lobular Features and Focal Mucinous Features. Pre Pectoral Reconstruction. Hysterectomy
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Jan 30, 2021 09:53PM - edited Jan 30, 2021 10:00PM by Beesie

Martha, I'm sorry that your sister has been diagnosed with breast cancer.

A few things to know before you decide what to do next.

First, most breast cancer, as in 85% or more, is NOT genetic. Genetic breast cancers tend to develop at a younger age; a concern about the possibility of a genetic link to breast cancer usually comes up when the person diagnosed is in her 30s or 40s, or if there is a strong family history.

Second, genetic testing, if it is to be done, is always recommended for the patient first, before any family members. It is more logical to look for a possible genetic mutation in the person who already has cancer. If the patient tests positive, then family members can be tested for the one very specific mutation. If the patient tests negative, then there is no need for family members to be tested. Your sister, being 75, is right at the tail end of the prime years in which the average woman, without a genetic predisposition, is at her highest risk develop breast cancer. So unless there is a strong family history of breast cancer, it is unlikely that genetic testing would recommended for your sister and even less likely that insurance will pay.

Third, genetic testing doesn't necessarily provide a clear "yes" or "no" answer. While there are two well known breast cancer genes, BRCA1 and BRCA2, these days most breast cancer genetic testing involves a full panel of genes - possibly as many as 30 - that all could potentially increase risk of breast cancer by varying amounts. But many of these genes increase the risk of other cancers too. And with that many genes being tested, one possible result is a VUS, a variant of uncertain significance, which means that a mutation was found in the gene, but there isn't enough known yet about this mutation to know if it's harmless (most are) or if it increases risk. So sometimes genetic testing results in more questions than answers.

My suggestion is that you talk to a genetic counsellor before you do anything else. Given the age at which your sister has developed breast cancer, the likelihood that her cancer is genetic is probably very low, which would mean that her diagnosis is unlikely to increase your risk by much. That's not to say that you might not also develop breast cancer, as any woman could, particularly during the highest risk years from 60 - mid/late 70s.

If there is a lot of breast cancer in your family, or other related cancers (ovarian and prostate in particular), that would perhaps suggest a greater likelihood that your sister's cancer might be genetic. This is where a discussion with a genetic counsellor will be helpful.

As for my experience, I was diagnosed at 49. My mother was diagnosed just before me at age 80 but one of her sisters had been diagnosed in her late 40s, so that raised a bit of a red flag. According to my genetic counsellor, the bigger concern was all the prostate cancer on my father's side of the family. I had BRCA testing twice and tested negative both times; new mutations continue to be discovered so testing again after a few years is recommended for those with a strong family history who test negative. I had a panel test of another 20 or so genes. All negative. And I participated in a clinical trial in which I was tested for over 150 cancer genes; of those, I had one VUS for a gene that is very weakly linked to a condition that does increase breast cancer and prostate cancer risk - but the link with this gene is so weak that even if I'd tested positive, no additional screening or any other action would have been recommended. So, lots of cancer in my direct family, lots of genes tested, no answers, no action taken.

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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Jan 30, 2021 10:40PM LivinLife wrote:

Hi Scubasmurf! I too am sorry about your sister's diagnosis. I agree as well about the low likelihood there is genetics operating here. At the same time you may decide you want to do due diligence. I had a full cancer panel - lots and lots of genes tested via a genetics counselor at the cancer center I went to. All came back negative except for a variant they do not know much about yet. It is related to colon cancer. I'm already being closely monitored for that given family and personal history of colon cancer (not me) and pre-cancerous polyp (me and others). That being said I lost 3 siblings to various cancers and both my parents to cancer as well. My mom and dad's sisters (5 total) had breast cancer, some recurring breast cancer and two died of it. There is also a history of other cancers in the family. The genetics counselor said people think there just have to be genetic components when there is a lot of cancer in family histories. He said it is often "coincidence." That was true in my case. I'm not at all saying don't do it. I'm just saying if you do realize there may be nothing there....

The one tip I would say is make sure if you go through with this that you check with your insurance company about whether or not preauthorization is needed and make sure the medical folks actually get the pre-auth. I talked with my genetics counselor about this b/c no-one contacted insurance. He assured me the 3rd party who does the test would seek it though not until AFTER my blood was drawn for the testing. Thankfully I contacted my insurance company before going to check on pre-auth and had contacted the genetics counselor at least twice about this before going for the blood draw. The 3rd party company did not seek authorization at all, just billed for it, it was denied and initially I was going to be stuck with the bill (I thought). It got held up for two months. Finally it was denied due to not auth being sought and they were unable to bill me b/c it was on them to seek it.... Just an FYI..... The bill was for over $5,0000. some companies (genetic testing) will only charge $250 if insurance denies my genetics counselor said. When you're already paying a ton in medical expenses each year that $250 is too much!

with expansive comedo necrosis & weak ER/PR Dx 7/2020, DCIS, Left, 2cm, Stage 0, Grade 3, 0/1 nodes, ER+/PR+ Surgery 8/31/2020 Mastectomy: Left; Prophylactic mastectomy: Right
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Jan 31, 2021 12:03AM exbrnxgrl wrote:


I am sorry to hear of your sister’s diagnosis. Beesie makes a very good point, in that your sister should, if appropriate, be the one to have genetic testing first. Additionally, it seems that insurance may pay for your sisters testing but would be less likely, or possibly unlikely, to pay for your testing (unless your sister tested positive).

I was diagnosed over 9 years ago. At the time, only BRCA 1 & 2 testing was available. My paternal grandmother had breast cancer and my sister had a uterine sarcoma. I am also of Ashkenazi Jewish descent and we have a higher risk for BRCA. With that personal history, the genetic counselor recommended testing which was fully covered by my insurance. I think it was a Myriad Genetics test and it was negative. About 3 years ago I had the Ambry panel which tested for about 34 genes. Again, this was negative. I have daughters and granddaughters so this was a relief but note that as the patient, I was tested first.

If you have serious concerns about a genetic connection, which is not very common, speaking to a genetic counselor can help you determine whether testing is really warranted. It’s also bound to be cheaper than paying for testing out of pocket if insurance doesn’t cover it. All the best.

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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Jan 31, 2021 10:22PM flashlight wrote:

Hi Scubasmurf1, I was 67 when I got BC and then my sister was diagnosed a year later. My MO recommended genetic testing because our grandmother had BC. She sent me to meet with the genetic counselor and we discussed the Myriad genetic BRCA testing. I think I had 17 genes tested after we talked about my family history. It was a blood draw. The counselor said I wouldn't be charged over $100.00. As it turned out I didn't pay anything and all test came back negative. When I went over the results with the counselor she said my test covered 50% of my sister's history. She recommended my sister get the genetic testing done for her 50%. If it had been positive, my children and my sister and her children would be tested and insurance would cover it. Good luck!

Dx 11/15/2018, IDC, Left, 1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR-, HER2- Dx DCIS, Left, <1cm, Stage 0, Grade 1, 0/1 nodes Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy Whole-breast Surgery Lumpectomy: Left
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Jan 31, 2021 10:49PM - edited Jan 31, 2021 10:49PM by ShetlandPony

“BRCA Mutations More Common Than Thought in Older Women Diagnosed With Breast Cancer"

Also, it is important to look at all cases of cancer in a family when considering testing, as some different types of cancer may be related to the same genetic mutation. The genetic counselor may recommend a bigger panel than just BRCA or just breast cancer. In my family we see 1 colon, 2 skin, and 2 breast cancers, with a gene other than BRCA implicated. One of the breast cancers was premenopausal but one was postmenopausal, and both women have the genetic mutation. This information is important for our family members. Two others have been found to have the mutation and are following their genetics doctors' advice on appropriate actions and screening.

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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