Share your Genetic Testing Story
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Those of us here who are Ashkenazi and only the second generation born outside the Pale of Settlement are at a handicap when trying to compile our family histories--we can only be sure of diseases and causes of death in those of our relatives either with whom we’ve spoken or for whom we’ve seen death certificates or gotten confirmation from closer-degree relatives of theirs. I come from a small family (2 kids), my mom was one of three, and my dad one of four (one of whom was a half-sister and the other a step-sister). I know that both my parents, three of four of my grandparents (one died of pneumonia when my dad was a toddler), and an uncle all died of cardiovascular disease--I vividly remember learning of their sudden deaths. My maternal aunt died at 90 after 12 yrs. of Alzheimer’s. The two paternal aunts who died of cancer had non-gynecological cancers (esophageal and melanoma--both lifestyle-associated, and the aunt with melanoma was a half-aunt). My one paternal great-aunt died at Auschwitz; my three maternal great-aunts all died “of old age” (2 well into their 90s, one at 101). But I have no idea who died of what back in the Poland and Belarus shtetls.
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ChiSandy
I too am Ashkenazi Jewish with zero intermarriage until maybe my kids. Interesting to hear your story . I have a better handle on my history as in fourth generation in the US . I knew my great grandparents very well. Everyone is maternal line either had or died of breast cancer or ovarian cancer. I was one of first ever tested for BRCA 1 back in 1992 . I went to see coincidentally my current MO at the Dana Farber Cancer Institite way back then because I knew that all of this death and despair could not be a coincidence. I was seriously on the bleeding edge in those days and I was correct. We took the mutation with us when emigrating from the Pale.
A A
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What about people that don't know very much about their grandparents (me)? My mother always said she always wondered if her father was Jewish (born in the 1800s). Ancestry.com has no information on him except for his name and town (Sweden) In the pictures he does have a Jewish nose.... Of course I am the first in my family that has BC. Although father's sister died of melanoma..... the only other one I know of with cancer.
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I believe my story is rather interesting. I was in search of finding out whether my grandfather was really my grandfather. He apparently said to my mom's sister on his dying bed that he wasn't sure if my mom was his biological daughter! He's since passed, as has my mom from breast cancer. She was diagnosed at 56 with a recurrence with mets at 66, passing away at 68. That was 16 years ago. I thought if I could find someone from my grandfather's side of the family and have genetic testing, if we matched, then he was my grandfather. I searched ancestry sites and found a picture of my grandfather with his brother. It was submitted by a woman - my mom's cousin - that I had never known or heard about. I reached out to her to see if she was my mom's cousin. She was! She then suggested we test on 23&me to see if we came up as matches. We did! So, he was my grandfather after all! I only wish he was able to know that and my mom as well before their passing. This cousin then said, sadly, that there was a lot of cancer on that side of the family. My grandfather died from colon cancer. Her sister - my mom's other cousin - died of breast and ovarian cancer at 43. She herself had breast cancer at 36 but was in her 70s now free from cancer. She decided to get tested for the BRCA mutations. She came up positive, so I tested. Sadly, i came up positive for BRCA1, along with my 22 y.o. daughter. My daughter wanted to test right away. She has handled it very well, considering. But, this did lead to my daughter now studying to be a genetic counselor! She's in her 1st year now getting her master's degree in genetic counseling/human genetics. My son has not tested yet. Two brothers plan to still test. My sister, 55, has not tested yet, nor does she get her annual exams. She says she wants to test but just hasn't gotten around to it yet.
So, because of my search about my grandfather, I found out about this possible life-saving information!
My daughter will start surveillance at 25. I chose to have the prophylactic surgeries: double mastectomy with immediate reconstruction and my BSO, bilateral salpingo-ooporectomy. I was 50 when I discovered my mutation. I'm 52 now
I did my testing through a genetic counselor, referred by my ob/gyn. I never had any problems with insurance. Everything has been paid for with no issues.
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Chamomile - thanks for sharing your interesting story and the good that has come from it!
Wow, how wonderful your daughter is studying to be a genetic counselor! Amazing stuff!
Truly fascinating! I'm going through genetic testing now. My sister has the Chek 2 gene mutation
(she is undergoing treatment for breast cancer now) - I had BC 3.5 years ago, and my mom had
it in between us.
Thanks again!
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I am Ashkenazi Jewish too. However, I know my family history because luckily, both sides of my family have been in the United States since the turn of the century. I am BRCA 1 and 2 negative so my daughter (and son) do not have to worry. I do have a Variable of Unknown Significance (VUS). The VUS is possibly for the colon but there is no information on this gene mutation. I had a colonoscopy and they found a pre-cancerous polyp. I will be vigilant about getting colonoscopies just in case this is what the VUS represents??? Good luck to everyone here.
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hi. Has anyone been through genetic testing and found a variable for RAD51c and RAD51dand msh6?
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What led you to do the testing?
My mum died age 42 of BC, so when I was diagnosed aged 64 I wanted to know if I had inherited a genetic predisposition which I could have passed to my daughter, who has a daughter.
What were your results, and what choices have you made based on the findings?
A single BRCA1:c.135-62T>C sequence variant was detected in the BRCA1 gene. The clinical significance of this variant is unknown.
Was payment an issue?
No, the government paid for the test.
Have you discussed these decisions with your family?
Yes. My daughter has joined a regular screening program. My three brothers don't want to be tested.
How did the results change you?
Not at all.
What decisions where made based on the information?
Since the result was ambivalent, no decisions could be made.
What suggestions would you have for others?
Get tested if you have a family history of BC so that your kids, and their kids, are aware of their risks.
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I'm CHEK2 positive, which increases the risk of breast, colon, and prostate cancer. Both my father and uncle had prostate cancer, and my aunt had colon cancer. And of course, I have breast cancer
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Hi Everyone, I am brand new to forum. Was just tested, and discovered I am BRCA 2 AND CHEK 2 positive. Have extensive family history, two paternal aunts, as well as grandmother and great all diagnosed/ died breast cancer in 40s. I was diagnosed w dcis after very first mammogram, age 38. One of the aunts sons also diagnosed stage 3 colon at only 41. Increased breast ovary pancreas colon and possibly melanoma I'm told. I had thought I was tested for brca at diagnosis and 10 months ago, after 4 years, learned I had not been. I had to wait 9 months for an appointment w geneticist, then another month for the results. I have appts pending for MRI of breasts, with an ob/ gyn oncologist, and a gastro doc as well all upcoming. I am definitely planning double mastectomy, as well as removal ovaries, tubes and probably uterus as well. My mother and siblings trying get scheduled, have not discussed yet w my son. I did find the Prompt registry through Sloan Kettering though, and encourage others to as well. Also, my chek 2 is NOT the one people keep mentioning, 1100delc, I have Del exons 8-9....anyone w any info on this??
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Alh-
Welcome to BCO, and thank you so much for sharing your story!
The Mods
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What led you to doing the testing?
My mother was diagnosed with DCIS at age 62. At age 79, she was diagnosed with ILC, Stage III. I was shocked she got breast cancer again. But she said, "well I am BRCA2 positive." That was the first time she told me!
I had always known my grandmother died of ovarian cancer at age 48. I then learned that BRCA2 is linked to increased breast and ovarian cancers. Since there was a lot of cancer between my mother and my grandmother, I wanted to know if cancer was stalking me as well.
What were your results?
I tested positive for the BRCA2 mutation. I also have a Variation of Unknown Significance on STK11.
What choices have you made based on the findings?
I was told my risk for ovarian cancer is 40 to 44% and my risk for breast cancer is 60 to 87%. I didn't want to wait for cancer to get me. Since I am past my child-bearing years, I had prophylactic bilateral salpingo-oopherectomy (BSO) and prophylactic bilateral mastectomy with reconstruction. If I had learned this when my mother got her BRCA results 18 years ago, I would have had increased surveillance and possibly chemo-prevention at that time.
My surgery was November, 2015. I got my pathology report. Everything removed was benign. However, there were many areas of hyperplasia in both my breasts. I feel that I had surgery before my breasts had a chance to turn cancerous.
Was payment an issue?
I was told that my insurance covers the testing and the surgery. We shall see.
How have you discussed these decisions with your family?
I have discussed this with my spouse, my siblings, my parents, and my uncle.
I was surprised that my mother didn't discuss her results with me. I live 300 miles away from my mother and maybe that is why she forgot to tell me. Maybe she forgot to tell me because her doctors didn't do anything about her BRCA2 positive status. Mom was not offered increased surveillance, chemo-prevention, or surgery. Maybe the mastectomy would have been too much for her, but certainly she could have benefited from increased surveillance and chemo-prevention, and possibly even the BSO.
At her age and health, my mother's doctors are not so much trying to cure her cancer, but keeping it in check. It really makes me sad and angry that her second cancer could have been prevented or at least caught much sooner.
My mother feels particularly bad that she "gave" this to me. My sister tested and is negative. My brother with children refuses to be tested, while my brother without children is being tested due to concerns about all the associated cancers (prostrate, male breast, melanoma, and pancreatic).
I have not yet discussed this with my children who are minors each with their own special needs.
What suggestions would you have for others?
Ask, ask, ask! Ask for genetic counseling and ask if genetic testing is needed. If you are positive, ask for treatment recommendations. Being positive for a genetic mutation is not a death sentence but an opportunity.
You have options: increased surveillance, chemo-prevention, and surgery. You can be pro-active and beat cancer before it even starts. Educate yourself and keep asking questions!
I have had friends who have gotten breast cancer seemingly out of the blue. They didn't find their cancer until it was already stage III. You can be pro-active and beat cancer before it has a chance.
Mominator
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Thank you for sharing Mominator! Would you be able to send us a photo to go along with your story? It doesn't necessarily have to be a picture of you, but can be something that represents you, if you wish to remain anonymous.
Again, thank you!
--The Mods
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I had a double mastectomy at 26. I'm brca1 and lost my mum grandma and great aunt to ovarian cancer, various relatives to breast cancer. My story is written on this blog https://theyarenottwinstheyaresisters.wordpress.com
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I have a very strong family history of breast cancer and tested positive for NBN mutation. All of my maternal aunts (2) and my mother had breast cancer and later died. I had my mother bank her blood in case another gene mutation was discovered (she did not have BRAC). Her blood tested positive for the NBN mutation. All of my maternal cousins (4) have/have had breast or prostate cancer, linked to NBN and 2 cousins were tested and found to be NBN positive. My youngest sister is also NBN positive. My younger brother tested negative. My younger brother has had colon cancer at age 54 and my younger sister died of colon cancer at 55.I had a prophylactic bilateral mastectomy on Sept. 9, 2015 with reconstruction started. It is now Feb. 28, 2016 and I have to wait until March 24th for my implants, due to having to have my expanders replaced because of a leak and not loosing my drain tubes until Dec. 29th! I do not regret the mastectomy but I hate the pain and discomfort of these expanders. Reconstruction is not for the faint of heart.The process was long and complicated. It was difficult to get legal possession of my mother's banked blood but I recommend that every cancer patient do this for future discoveries of mutation. I was lucky that my insurance has covered all testing and my surgeries. My brother's insurance would only cover the NBN mutation. I am sick with worry that I passed this to my daughters/granddaughter. My other surviving brother who had colon cancer does not want to be tested for any gene mutations and my counselor and my cousins counselors feel it is important that he is tested. He has 3 daughters and 6 grandchildren who should also know. I chose to have the mastectomies because I felt that increased monitoring was only going to catch cancer and I would need chemo and radiation later. My mind is so much more at ease since the surgery, now I just need to get my implants and feel better!
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Thanks to all who have shared their stories - Here is another way to help us - 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
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I decided to do genetic testing because my close friend is struggling with ovarian cancer. She found out she was Brc1 positive after she got cancer. If she had know, she may have been able to catch it sooner, or even do some preventitve. My father was also diagnosed with prostate cancer 2 years ago, and grandmother also died of breast cancer. My test results show positive for the ATM gene and PALB2. Im just starting to think about what this means for me and if I too should start thinking of doing a preventative.Is there anyone else out there that has tested positive for ATM?
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Hi Momof322 and welcome to Breastcancer.org!
Have you spoken with a genetic counselor about what a positive result means for you? There may also be some good information for you on the main Breastcancer.org site's page on What to Do if Your Genetic Testing Results Are Positive.
Also, you may want to join in the discussions on the forum: Positive Genetic Test Results -- there are lots of other members there who have tested positive for all kinds of genetic mutations, including ATM and PALB2.
We hope this helps! Please continue to let us know how you're doing!
--The Mods
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Thank you so much. This gives me a good next step.
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I had genetic testing on 2/28 due to my age (45) and my family history - mom had DCIS at 46, and two of her sisters had DCIS at 46. One of their daughters currently has LCIS so they are watching her like a hawk. I have started a FB page with all of my female cousins to get the dialogue going and to encourage testing/mammograms (most of them are younger than I).
The genetic counselor was very informative and mentioned that even if I'm negative, that if my insurance company denies coverage that I should definitely contest it due to my family history.
Got the results last Friday and I'm negative for BRCA1 and BRCA2. We opted to go with the expanded panel as well since there is more information to be found and they are always doing research that may become significant in the future - especially to my 3 daughters (34, 17 and 14). The geneticist said this is the time to do the expanded panel because they will use the same sample - but if we go back later to get tested it may not be covered since I have already been tested for the BRCA gene (which the results sill never change) - there would be no compelling reason for the insurance company to cover it.
So get tested for the expanded panel at the same time!
I told my daughters when we went to get the teasing - 24 yr old cried, but the younger ones just don't understand the gravity - and they didn't need to since they are so young. We also told them of the results. I have told as many people as I can to provide knowledge and support. I guess talking about it is just my way of coping - I'm a researcher at heart so anything I can learn is good!
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just became a member today. Dxd DCIS at age 43 on 10/02/2015. Was offered genetic testing due to my age, the test was covered, the visit with counselor was not (I happily shelled out $29 for that)
My family history is poorly known at best ... Dad was in a boys home, his mom died of heart issues but never really did Mammos... My mom stopped hers some time ago before she died this last January of respiratory complications of pneumonia with a history of COPD.
I found out I have the CHEK2 mutation... So given the risk of recurrence within 10 yrs, and that I was facing radiation and tamoxifen - I opted the mastectomy route- bilaterally. Just did that over 2 weeks ago. My sis just got tested. She is positive for the mutation too but had a normal mammo. She is getting scheduled for an MRI.
It's a great way to reach back out to your cousins you haven't talked to in YEARS - "Oh by the way I have cancer, and have a genetic mutation and you should get tested too.... So how have YOU been?" (Hope you're picking up my sarcasm cuz I'm laying it on pretty thick)
Anyway. That is what I know as of now.
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Cathy_pa - LOL I totally get the cousin thing... I haven't seen them in YEARS, but I am in touch with them on FB so creating my page wasn't too out of the ordinary. I had to fight the thoughts in my head about starting it though (would they think I was trying to get attention, would I freak them out, etc.) but I'm glad I did. We've had some meaningful conversation!
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Still looking for stories! If you'd like to share yours, you can do so here, or send us a pm! Thank you so much everyone!
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I am heading for my genetic counseling appointment April 4th. For those with an HMO, get as much info as possible for the counselor. The counselor is the one one who needs to recommend testing based on % risk. NOT the onchologist. If the oncologist recommends it, they will not pay. Also, if the geneticist notes that you are asking for more extensive testing other than BRCA, insurance will not cover the other tests. Only BRCA. The geneticist needs to say you need additional screening and there can be no notes that you asked for it. Luckily I found a family member who tested positive for PALB2 and CHEK2 mutations,so I shouldn't have a problem.
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I recently had the genetic testing due to my family history and both gynecologists(one man and one woman) I've seen in the last few years strongly recommended it. My mother developed breast cancer at 48 and passed away at 51, her younger sister developed it at 45 but is still alive after having both breasts removed and their older sister developed it later in life and also passed away from it. My father had prostate cancer in his later years and one of his sisters passed away from pancreatic cancer. My results came back negative with a variant of uncertain significance. My gynecologist really didn't understand the results and never recommended genetic counseling. From what it says on my test results they still recommend an annual breast MRI and breast exams every 6-12 months. From what I could figure out, they still consider me high risk due to my family history. I'm trying to get the one surviving aunt of breast cancer to have the test done but so far she hasn't had any desire to do it.
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Boy that's tough. I had that problem but I had two at least who agreed.. She would do it ... For you. But you can't force anybody to take this difficult step
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Hello this is my first post. I am a 62 year old female. I had genetic testing done in March of 2006 . My results were positive for BCRA2. My mother had breast cancer at 48, then again 11 years later and finally again in 2000 where it had went into her bones. I decided to have a double mastectomy in June of 2006. Also I should state I had DCIS. Recently the past 4 mos I have had three swollen lymph nodes by my collarbone. Is this something I should be concerned with?
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I would get it checked just to be sure and to ease your mind. Crossing my fingers and toes it is nothing. Please let us know how things go.
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As per a previous comment, this is my first post here also. I am a 45yo male. I had my BRCA2 test in December and am positive unfortunately. A couple years ago, one of my cousins was diagnosed with male breast cancer and had the test done and was positive, With the family history of over half my mother's siblings having already died from cancer as well as her mother dying at 50 herself from it, most the remaining family members chose to be tested and many are positive, including my mother. Therefore, I chose to be tested. As a double whammy, my father is a 12 year survivor of prostate cancer, so the cannon is loaded and aimed at me. The family has been very open and supportive to spread the awareness and to prevent or help the other members. In fact, I feel we are communicating more than we ever have since my grandfather passed many years ago. As a result of my test, I have been doing more screenings and is an odd thing to hear out of my mouth to talk with a doctor about myself having a breast exam. I do have a couple large masses on my thyroid that I have been monitoring with an ultrasound every six months and have been debating on just having the half removed now that I know my results. With our particular version of the mutation, my mother had an 87% chance of breast cancer by the age 80, so she had a preventive double mastectomy 4 weeks ago as well as her ovaries. I myself may just do the same with my thyroid, just to be safe, And finally, knowing that my 14yo son has a 50% chance of being positive, I have been completely open with him about the testing and screenings knowing that once he is an adult, he should also be tested. Otherwise, for now, am just going to eat healthy, get back in shape other than round :-), screen myself, and live every day as a blessing.
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CNaivar, knowledge is power and while it's bad luck that are positive for BRCA2, you now know to take measures to screen yourself thoroughly. Males with BC are diagnosed at an average age of 65. I have an unknown variation of the BRCA1 gene and was diagnosed at 63. As I understand it, having the BRCA2 gene as a male raises your chance of getting the disease from near zero percent to 8 percent. My Mum died aged 40 with the disease. Anyway, remain vigilant with your screenings, since early detection helps considerably should you need treatment.
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