Genetic Testing

At my last appointment with my gyn/onc (my surgeon) in December, I asked him about whether my cancer could have been caused by a genetic defect.  I have a separate oncologist in the hospital where I used to work, and I'd asked him about it when I was first diagnosed, nearly five years ago, and he checked and told me that UPSC wsn't something that could have been caused by a genetic defect. However, after reading some of the comments on this site, I began to wonder, so I asked the gyn/onc.  He told me that there is a relationship that can happen with the BRCA 1 gene, and since my mother had breast cancer twice in the same breast and my grandmother had breast cancer in both breasts at the same time, it would be a good idea for me to be tested.  My father had prostate cancer, and my half sister, who was much older than I, had died of lymphoma.  I'd had skin cancer on my neck about 10 years ago.

His office person got approval from my insurance company, and I had blood drawn for the test.  The next day, my insurance company called to tell me they had changed their minds (they had 24 hours to do that, they said).  I needed to have three immediate relatives with specific sites for their cancer to qualify, and I only had two, the breast cancer relatives.  There were other sites that qualified such as ovarian, but I had none of those cancers in my family (I'd had mets to the ovaries, omentum, and small intestine).  There was also a requirement that the cancers had to be diagnosed by the age of 50, which none of them had.  It seems like there was some third requirement, but I can't remember now what it was. It may have been something to do with which side of the family (maternal or paternal) the cancer came down through.

I didn't know it right away, but my gyn/onc got approval from my insurance company to get other genetic testing done.  There was some other genetic defect that could cause colon and uterine cancer, so I was tested for that with the blood I'd already provided.  When I learned that was being done, I thought it was crazy since there was no other history of those cancers in my family. And just like I thought it would, that result came out negative for that genetic defect.  I'm still left hanging as to whether or not I have a BRCA 1 defect, but I'm not willing to pay about $4,700 to find out.  If I should develop breast cancer at my age (66), it will most likely be the less risky form of it.  The people that get it young are supposed to be at a higher risk for fatalities, I believe.

I do know that I have another genetic defect that caused me to get hemochromatosis.  I understand that can cause some cancers, but as far as I know, UPSC isn't one of them.

You may have trouble getting approval for genetic testing since all the cancers in your family were developed after age 50.  I think all or most insurance companies go by the same general guidelines.  Let us know on here if you succeed in getting it done and what the results are. 

AWK said:

I have had full genetic / genome testing at the end of last year

I am two years into my battle with stage IIIC / stage IVa UPSC.  I have never been NED and last year after my second line of chemo it was determined I am chemo resistant as I had progression found after frontline and again through secondary chemos.  i was 50 at diagnosis, average weight and had not gone through menopause.  I never realize disunity. I wrote it out but I have a strong family history of cancer.  My mother had triple negative and is still with us six years out.  My father passed from brain cancer.  Two brothers have had aggressive melanomas and are spooning well.  

Tissues from my original surgery, including both tumors, were sent to FoundationOne for genome testing.  This wasn't done via a blood Test.  The expectation was that the tests would enable the doctors to create a custom treatment regime for me.  Unfortunately, in my case, the results brought back more questions than answers.  I was a perfect match on six cancer genes and "hit" on 21 mutatations.  My doctors and team consulting on my case from across the country have only seen very few cases like mine.  The school of thought they all follow is one related to type of cancer first and location second.  They believe there is a link to my father's cancer as well as my mom's.  Genetic jackpot!  Super interesting to be sure and hopefully my case and history will help other women in the future.  

My oldest sister recently sent an e-mail to all my female relatives on my father's side of the family. Because of my metastatic UPSC, she saw a gyn oncologist who told her that no doubt "your sister's UPSC is genetically caused even though the link has not been found". She told my female relatives to be genetically tested . My paternal grandmother died from uterine cancer and her daughter died of either ovarian or uterine cancer. My Dad had prostate CA, urinary bladder CA, lymphoma and two types of skin cancer. A cousin had breast CA. My oldest sister is having a hysterectomy in April. 

Cathy

I find it very interesting that you also had breast cancer, prostate cancer, and lymphoma in your family, among the other types.  It really makes me wonder about mine.

Kaleena said:

Genetics

Hi Flyerette:

I had a new doctor last year and he decided he wanted me to have genetic testing done to determine if I had Lynch Syndrome because I was diagnosed with Endometrial Cancer at a early age (anything below 50 years)   I was 45.    Also, my maternal grandfather had colon cancer.    My genetic testing came back negative.   However, at the end of 2014, my mother (age 81) was just diagnosed with Stage IV Invasive Breast Cancer (HER-2 positive).   I also have a paternal aunt who develope Breast Cancer in her 70s.

My family has a history of arthritis (mother's side) and cardiovascular (father's side).   One of my older brothers was going through some testing and he is found to have a mutated gene 5MTHFR.   It has something to do with folic acid in your system.   I have not been tested but his doctor indicated that if he has it, then someone or everyone in his family may have it too.

I have not been tested for this.  However, my new PCP just did some testing and once again I am Vitamin D low (26).  She also said that my B12 was on the low side.   And my doctor wanted a bone density test done and so I find out that I have Osteoporosis.

She wanted me to start taking Calcium, B12, Vitimin D3.   I recently developed high blood pressure which I am now lowly medicated for.   I now also have kidney problems which I believed was the cause of my high blood pressure because prior to kidney problems my blood pressure was usually low to normal range.

My only problem is that I just don't want to start popping this stuff before I find out the reason.   So in the meantime, I am only taking the Vitamin D3 because that seems to be the root of many things.  It also helps the body absorb Calcium.   Since my calcium levels are normal, I did not want to take extra calcium.   The B12 supplements that I bought had other stuff mixed with it and I am researching this before I start taking them.

I see my gyne/onc this Wednesday coming up so I will have a lot of questions for him.

I shall be waiting to see what you learn and decide to do.  I am reluctant to take any medications, including supplements, if there's any way around it.  Fortunately, I don't need any Rx's so I only take vitamin D3 because blood work showed I was low in Feb a couple years ago.  Not surprising since I live in the NE but I wonder what my levels would be in the summer.  Maybe I could just take it part of the year.  My cholesterol runs in the low 200's.  My previous dr wanted me to take something for it.  After a couple years, I finally agreed.  It didn't lower my numbers one bit And my ratios were good.  I learned that in Europe I wouldn't even meet the parameters for treatment so I stopped the medication.  I may regret it someday but I really believe we are pill crazy in this country.  My husband, on the other hand, has a boatload of Rx's and is unwilling to try lifestyle and diet modifications.  He's perfectly happy to just add another pill.  Makes me cringe!