Genetic Testing Stories

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Many people decide to learn whether or not they have an abnormal gene that is linked to higher breast cancer risk. Three of the most well-known abnormal genes are BRCA1, BRCA2, and PALB2. Women who inherit a mutation, or abnormal change, in any of these genes — from their mothers or their fathers — have a much higher-than-average risk of developing breast cancer and ovarian cancer. Men with these mutations have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer. Many inherited cases of breast cancer have been associated with these three genes. Abnormal BRCA1, BRCA2, and PALB2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Most people who develop breast cancer have no family history of the disease. However, when a strong family history of breast and/or ovarian cancer is present, there may be reason to believe that a person has inherited an abnormal gene linked to increased risk of breast cancer. Some people choose to undergo genetic testing to find out. Members of our Community share their stories about deciding to have genetic testing done and how it has affected them.

614

"I found out that I have a genetic mutation that has not been researched yet so it is called a variable of unknown significance.... Knowing that I have a genetic mutation but not knowing anything else about the mutation is very stressful and anxiety-provoking." Read 614's story...


bc31

"Instead of making me scared of the possibility of developing other cancers, I left feeling empowered that now I have more people looking out for me and tools in place to monitor my health." Read Bc31's story...


pamelakay

"After the DCIS diagnosis, genetic testing was recommended and I was floored to discover I am BRCA2 positive." Read cajunqueen15's story...


annabill

"[...]We all know the black cloud and to a lot of other people that do not have this history, it is very hard for them to understand. In our family, if you reach the age of 50, every year after is a blessing." Read Calgary002's story...


annabill

"I told my sisters and they will be tested [...]. We have no children so at least [the] buck stops with me. I have a niece whom I am afraid [is] a lot like me." Read Castigame's story...


pamelakay

"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!" Read Chamomile's story...


chisandy

"Do I resent having had to go through all this worry for the 2 weeks it took to get my results? Not at all. Knowledge is power, either way it turns out." Read ChiSandy's story...


cnaviar

"I am a 45-year-old 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." Read CNaivar's story...


pamelakay

"When I was given my genetic testing results, my oncologist and genetic counselor enthusiastically congratulated me on my negative results. But before I could even take a breath and enjoy that moment, they said, however, you are still at increased risk because of family history." Read Djabi53's story...

pamelakay

"From the minute I found out I had breast cancer, BRCA testing was on the table. Being of Ashkenazi Jewish heritage moved me to the front of the line. Additionally, my paternal grandmother had died of breast cancer, and I had recently lost my younger sister to uterine cancer." Read exbrnxgrl's story...


annabill

"Although some would rather not be burdened with the worries of what 'may cause cancer,' I prefer to remain proactive and preserve as much of my health and life as possible." Read Fab65's story...


annabill

"I did the tests because I needed to know for my future planning and my relatives'[...]. I couldn't have lived with the wondering and possibilities of not giving them the chance to proactively make their own decisions and management ahead." Read felloco1's story...


annabill

"Not much of a family history, but my age was enough to warrant testing, regardless of history. De novo mutations are always a possibility, meaning those that were not present in your mother and father as adults, but were present in the sperm or egg cell that eventually became you." Read glowgene's story...


pamelakay

"Since my mother was my only history for ovarian cancer and she was diagnosed a couple years over the benchmark age, it took the breast cancer of a cousin to sway the counselor to recommend testing." Read Hypatia's story...


annabill

"I have had genetic testing done. My grandma, my mom, and my uncle have all had breast cancer. My sister and my aunt both tested positive for [the] BRCA2gene [mutation]. I was tested [in] May 2016." Read JamminJ's story...


pamelakay

"I did test positive for the ATM gene mutation and so we decided to do a bilateral mastectomy based on the increased chance of recurrence and my age. My mom and sister both got tested and were negative for the mutation. My dad will be getting tested soon." Read Jezikah's story...


jkbrca2

"After my mother's second breast cancer diagnosis, her oncologist suggested I test for the BRCA gene. But that was prior to the changes to health insurance, so I didn't. After that improved, and I had my son in 2011, we decided it would be good to know if this mutation was in our bloodline." Read jkbrca2's story...


larkspur

"Because my mother and her sister had both developed breast cancer (after menopause) and because I'm Ashkenazi Jewish on that side of the family, my breast surgeon referred me for genetic testing, a move seconded by my gynecologist -- both women." Read Larkspur's story...


pamelakay

"All of my maternal aunts (two) 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 BRCA). Her blood tested positive for the NBN mutation." Read Linny50S's story...


lovinggrouches

"They did genetic testing and found unknown variant of PALB2. I have since found out that I have 5 females on my mom's side of the family that had breast cancer and they all survived it, but none of them were real young when they developed it." Read Lovinggrouches's story...


luckyduck

"I have not made decisions about what I will do just yet; however, I do feel like bilateral mastectomy and oophorectomy are in my future. It's a question of when, not if." Read LuckyDuck7's story...


Meggan

"[...]I know how lucky I am…and that losing my breasts is a small price to pay in exchange for significantly increasing my odds of survival. I may never mourn them. Besides, they probably would’ve killed me." Read Megs1234's story...


annabill

"A casual conversation in a locker room with a gym mate that also happened to be a doctor prompted me to get genetic testing done after we talked a bit about my family history." Read MickiJ's story...


annabill

"Either reality hasn't sunk in yet, or I am more pragmatic than I thought because right now, my only worry is making sure all the paperwork and insurance billing is correctly sorted out. I suspect that as things get more real and I move toward surgery, this sense of numbness will leave me." Read MightyMightyMunsonMama's story...


pamelakay

"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..." Read Mominator's story...


pamelakay

"I did believe, prior to the results, that there had to be a genetic component, since statistically the amount of cancer in my family was out of the norm. I remain stunned that everything was negative and firmly believe that something will be found in the future." Read movingsoccermom's story...


annabill

"I was tested for BRCA back in 2010. Since my diagnosis, three more of my female cousins in my generation and one in the next were diagnosed with breast cancer." Read mrsbeasley38's story...


mustlovepoodles

"Pay attention to your family tree. Talk to your elders about cancer. One of the things that I found frustrating is that some of the older women in the family never spoke about their cancer, other than to say it was 'female cancer,' whatever that is." Read mustlovepoodles's story...


Nallen

"My nerves are shot and the depression has set in, but at 29 years old...I have had to make some decisions to give me the best life possible." Read Nallen0902's story...


annabill

"This has felt like the most useless and least responsible part of my breast cancer experience so far. If so little is known about these rare mutations, why are you telling me about them? The testing company seems to be exaggerating the risk, and I don't know why." Read Okkate75's story...


omt

"The genetic testing part has been actually the hardest part of my breast cancer journey - as I have three kids, two of them girls, and each of them have a chance of inheriting this gene mutation. But, knowing that I have this gene mutation has changed my cancer treatment." Read omt's story...


annabill

"I know this is crazy...but I wanted my testing to be positive. I don't want my daughter to have to go through the 'come back when you have cancer' line from insurance if she wants prophylactic surgery." Read prairiesod3's story...


pamelakay

"My OB/GYN has recommended that I test for the BRCA mutation for several years but I always put it on the back burner claiming it would affect my insurance or not be covered, etc. The truth is I'm 45 and my mother and sister both had breast cancer in their mid 30's so I felt I had dodged a bullet and couldn't be positive." Read Previvor's story...


annabill

"Even though I and my siblings have always believed we had a hereditary multi-cancer history, it still is strange having an actual mutation and gene identified. I am glad I got the testing, and I believe I will probably learn more in the future about my mutation as more research occurs." Read pzercher's story...


queen-celeste

"It was only after reading up on it that I learned that being Ashkenazi [Jewish] was a risk factor. No doctor, nurse, or mammogram technician had ever suggested or even mentioned genetic testing to me. I don’t think that any of them knew what 'Ashkenazi' is." Read Queen_Celeste's story...


pamelakay

"I am BRCA2 positive. I did not want to act on this, just wanted to be observed, got an MRI done, which is how my breast cancer was found." Read Reckless's story...


robin

"I got a phone call from my doctor stating my results were negative. It was such a relief. I remember my husband taking me out for supper to celebrate. Two days later the phone rang again, it was the nurse asking me to come in the next morning and speak with the doctor." Read Robin31's story...


annabill

"In my church circle, there are multiple MDs, including clinical oncology researchers, radiologists, etc.... They all suggested doing the testing, due to my age at diagnosis (just turned 42) and there's no history in both sides of the family as far as I know." Read superius's story...


pamelakay

"Since I was 45 at the time of diagnosis, genetic testing was suggested. There is no breast cancer history in my family, but I did the test anyway and received the news in November that I was BRCA1 positive." Read sushimsg's story...


pamelakay

"I...just received the call from my doctors office that my BRCA2 is positive. With that being said, my grandmother and my great grandmother, and great-great grandmother all had breast cancer." Read tddoucet's story...


annabill

"What led [me] to do the testing?My age at the time of diagnosis and the fact that I have a daughter. Knowledge is power." Read Wendiwithani's story...



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