CHEK2... my genetic plot thickens?
Today I went to have genetic testing for the CHEK2 gene mutation. Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%. Well aren't I glad I've had a bilateral mastectomy... And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k... So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration. She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't. The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues. It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November. The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year. If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed. Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc. If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for... This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis... And now I'm consoling my still wet eyed self with a café lunch and there's a revolting couple refusing to control their toddlers who are literally screaming, running around and banging on the windows. When my kids were that age if they behaved like that they were packed into the pram and taken home. I only had to do it once with each kid. They never did it again because I don't do empty threats. Hurrumph. I am grumpy as f**k.
Ovary removal.
Hi all, today I got some news that has rocked me a little. Almost 2 years ago I lost my mum to ovarian cancer, a year later my sister was diagnosed with metastatic stage 4 breast cancer and about 3 months ago I was diagnosed with stage 2 invasive with node involvement. I had genetic testing and today I got my results. I have the gene mutation brip 1. Apparently this is very new as far as testing is concerned. They have however found an increase in my risk of ovarian cancer. I am both needing to vent as well as seeking advice/experience that others may have had xx also if any one has had ovary and Fallopian tube removal what was your experience xx thanks for listening xx
Two days ago my life changed forever
Hi everyone, just hoping to reach out and seek some advice at a time that my life feels completely out of control on two levels. Two days ago, my (very recent) fiance and I arrived home from our long awaited overseas holiday. We'd been scrimping and saving for this trip, and had the most fantastic time. Although exhausted and jet laggy, we were so excited to see everyone and celebrate our engagement. My younger sister had asked to come see me when I got home, and although not feeling too crash hot I was excited to see her. She walked in the door and I could see something was very very wrong. My 31 year old sister then proceeded to tell me she has been diagnosed with Stage 2 Breast Cancer. She and the immediate family had known for about a week but she didn't want to ruin the last few days of my holiday so waited to tell me until I was home. We have a strong family history so breast cancer is not new to us, but the last thing I ever expected was for my baby sister to have a diagnosis so early on. The last few days have been a really strange surreal experience. I was so glad to be able to go to her appointment with her where they talked about a plan of action, and there is some strength in having a plan for moving forward. My number one priority is for my sister to get healthy and well again, although she has a challenging 6 months ahead of her. I am going to do my best to support her through her journey but where I am feeling extra terrified is with my sisters diagnosis, alongside my mum who had breast cancer 5 years back (5 years clear woo hoo!!!! :)) all the doctors are now a lot more concerned about me and are suggesting if my sister's gene testing comes back positive, I should also get gene tested and if that comes back positive then I'll have some decisions to make. So I'm all messed up about my baby sister facing this battle, but then alongside that also worried about what will happen to my side of the things, and feel completely helpless as these things take time, so I just have to sit and wait... and wait... and wait..... I just really appreciate finding this forum and appreciate any advice anyone can give. I also hope as this journey goes on, I'll be able to help others and contribute. Much love to all xx
To remove ovaries or not ??
Hi I got diagnosed with BC late last year aged 47 .Had lumpectomy in January this year followed by radiotherapy.Now on Tamoxifen.Had a Mirena in place for heavy periods which I had removed at the oncologists recommendation.Fast forward 5 months on Tamoxifen and having periods from hell! Saw gynaecologist yesterday. I need to make a choice between endometrial ablation or full hysterectomy with removal ovaries. My grandmother died of ovarian cancer at 54 years. I’m waiting on genetic testing result but as I understand even if negative it’s no guarantee as we still have a lot to learn about genes. Mum had full hysterectomy about my age ( no cancer found) but was able to take HRT for 7 years.So I’m really trying to weigh up the risks and benefits . Any advice/ experience would be appreciated I have changed my decision a few times already Thanks in advance x -
Prioritising access to risk reducing surgery
We know that the knowledge of your risk of breast cancer can be empowering but it becomes a feeling of being powerless when forced to spend years on public wait lists for risk reducing surgery. It’s a constant state of fear compounded by lack of transparency regarding timelines and the reality is some will receive a breast cancer diagnosis whilst waiting Today we’re in Canberra with the Australian Access to Breast Reconstruction Collaborative Group (AABRCG) to launch a joint position statement ‘Prioritising access to risk reducing surgery for people with inherited high risks of breast cancer.' We're calling for a national, consistent approach to ensure that individuals with inherited genetic risks have timely and equitable access to risk reducing surgeries. Are you waiting for a prophylactic mastectomy? To learn more about this issue and to read our position statement, visit our webpage https://www.bcna.org.au/our-impact/prioritising-access-to-risk-reducing-surgery/
Genetic testing
Hi everyone I am 8wks into 16wks of fortnightly chemo for triple negative bc. Next week i have an appointment with a geneticist. I don't seem to have a family history of bc so unsure of the outcome. Has anyone else had genetic testing? What should i expect? If i have no family history, does that mean i have a brca gene?
Gene Testing
On the 26th I attended genetic counselling after already providing my family tree. They told me due to my age and confirmation of my family genetic mutation in Scotland it is very likely I have inherited a faulty BRAC1 gene. Oh shit....I didn't say. 51 ...breast cancer...grade 3 but stage 1...Her2+ Es + now possibly gene also. I now await confirmation of this. The hardest part was discussing it with my siblings who are now going for testing. My sister for her own risks. My brother for his daughter and multiple granddaughters. I am so hoping they are negative. (As well as myself ) My niece is super stressed. I have made the decision I will pursue more surgery if needed. Already a bilateral mastectomy and halfway through reconstruction, chemo over. So dissapointed I might have more to do before health returns. It's sure is a hard fight to reduce our cancer return risks. ..but ovarian cancer has no early detection...so what choice do we have?
Changing life
It has really been a challenging 2 months for me and my life is changing so fast. I am 47 and was diagnosed with a 1 cm DCIS, end of October. Had a lumpectomy and a re-excision in November, No micro invasion. BS then referred me to RT. My gut feeling is to skip RT and have bi-lat Mastectomy due to family history of bc. I met up with a PS to discuss reconstruction Also met up with the radiologist oncologist. My mind is just spinning because I was afraid that I was making too drastic a decision to have bi-lat mx. I think I was less scared of having a mx compared to making a wrong decision. Fast forward and 2 days ago, my genetic test came back positive for BRCA 2 abnormality. This now takes the decision out of my hands and I will have a bi-lat mx for sure. I am surprisingly relieved that I now have certainty that a mx will not be a wrong decision. But I am now sad and worried if I passed this terrible gene to my kids. They are currently too young for testing. Now my mind is also filled with making plans for more surgery to remove my ovaries and tubes. And I am reading up about all the terrible side-effects which I will have when my body becomes suddenly menopausal. On top of that, due to my genes, I have increased risk of pancreatic cancer which is difficult to screen and is normally found out too late. It is funny how one’s life can change in a blink of an eye. We really must live our lives everyday like it is the last. Treasure every moment. Don’t waste time being angry or negative or cross. Count our blessings and look for the silver lining behind every cloud.
BraOVO Test and Payment
Hi Lovelies, It has been a while since I have visited the forum. I hope that everyone has been able to take some time to rest and reflect over this crazy festive season. My question is for those that have had genetic testing - I am having the BraOVO test via www.genomicdiagnostics.com.au I really just want to know if you were provided with an invoice? The company has phoned me for payment, however they do not provide an invoice, payment is only available via CC over the phone or on their website. I don't have a problem with the cost itself, I am just paranoid about being scammed. My test was done at S&N. Thanks
Genetics Appointment
I have an appointment to see a genetic oncologist type person tomorrow. The generations in my family are all over the place (some of my first cousins were older than my parents) and I don't know much about what people died from (cancer being a dirty word) and have no-one to ask. Due to this, I'm fairly sure that I will not qualify for any subsidies on genetic testing and cannot afford to pay for it up front. However, as my sister was diagnosed at 32 and died at 45 from an early detected breast cancer, I am very keen to know what the likelihood of it being genetic is, and what that means for treatment for me. Has anyone been in a similar situation and what was the outcome? Does anyone have any insightful questions for me to ask?
