I volunteered to take part in some research a year ago just before my debulking surgery so they could map my genome.The results were back a few days ago and my consultant said that there was a mention of a mutation on my BRCA 2 gene.
He said that he was going to send me to a geneticist as he didn't know much about this. Has anyone experienced meeting with a geneticist? I have researched different kinds of mutations on line.It did mention that because the BRCA 2 gene is autosomal dominant then it cannot skip a generation.The only person I know in my maternal/paternal family was a grandmother who died from Ovarian cancer in 1971 aged 73.There is no history of breast cancer at all.
Hoping someone may be able to enlighten me.Thank you.
Ann
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mrstadpole
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I met with a geneticist last week having tested postfor brca1. It was a total surprise for me too as we have no known cases of Ovarian Cancer in the family and just one auntie who had breast cancer. The auntie is my mums sister and, if i inherited it from my mum, she’s 70 years old and never had cancer so just because a person has the faulty gene it doesn’t mean to say they’ll get cancer.
The meeting with the geneticist was very informative as I now know my risk for breast cancer and what screening I can have and she explained the risk to my children being 50:50 that they might have inherited the gene from me but they are too young to be tested yet and my brother is going to be tested as he also has a 50:50 chance of having inherited it from our parents.
You are right that the gene cannot skip a generation so, for example, if my brother tests negative, there will be no risk to his children but she said brca is less of a risk to men. They have a small risk of male breast cancer and a higher risk of prostate cancer but not to the extent of the risks of ovarian and breast cancers to women so often brca is passed down generations by men and then shows itself when they have daughters .
It’s definitely worth meeting the geneticist. He or she will plot out your family tree and ask who has had cancer and let you know who is at risk and might want to be tested and they will talk about your risks for other cancers and what screening you can access. Hope that helps.
I too agree that meeting with a geneticist is really helpful in clarifying your options.
I knew nothing about the BRCA mutations and the enormous risk it brings for Breast and Ovarian Cancers (less so for pancreatic, prostate & Melanoma).
But when I heard about it, I read up on it thoroughly and when my sister had a recurrence of Breast Cancer after 15 years of good health, SHE was tested. She lives in the USA, Los Angeles to be exact, which has a large Jewish population.
Jewish women of Eastern European heritage are far more likely to carry this mutation.
Meanwhile, no matter how I asked for it, and my Oncologist finally got the wherewithal to push for it, I never got an appointment for the test here in the UK.
Finally, My entire family (daughter and I, mother, siblings and cousins) got tested in a lab in the USA.
Weirdly, it was an exact 50/50 split.
Only one sister and myself had the mutation, but also my daughter.
My mother was clear and is a surprisingly cancer free 97 year old with all her marbles.
My beloved father, who died of a brain tumou at 43, must have been the carrier.
Anyway, once you find out the consequences, you can take risk reduction options, which are available from the NHS here in England.
Hi Ann--same thing happened to me. My paternal grandmother had ovarian. No breast cancer in the family. I had no knowledge that men could even get BRCA but my Dad had prostate, followed by pancreatic cancer (both BRCA cancers) in 1994 and 1997 and no matter how many doctors we asked, they would say unrelated cancers. I found out about me being BRCA2 by entering a clinical trial. When we met with the geneticist, he said--before we knew--that he thought I would have the mutation because of my grandmother and father. He said 80% chance. And I did. I have two sisters and both do not have the mutation. It is possible to have the mutation and not get cancer. It is also possible for the men to carry it down each generation. I just didn't know that. Any men (father, uncle, brother) with cancers in the generation before you? oxox Judy
Thanks for your reply Judy.My maternal grandmother had ovarian cancer but no history of any other female reproductive cancer on that side of the family.Two of my cousins have had leukaemia (one first cousin) in their 20s but oncologist thinks this in not related to OC. My father died age 60 of heart disease so no cancer there.It seems to be a mystery but I guess someone had to be a carrier without it manifesting itself.
I have a daughter who I guess will need to be tested as well as my sister and her two daughters.Are you the only one in your family now who has the mutation?
I am the only one but I have 2 sons who have yet to get tested. They are both concerned about health insurance as our president might try to delete pre existing conditions from receiving insurance benefits. They have a few years before it’s a must to be tested anyway.
I’m not worried about the charge (but it’s great yours is free) It’s more about what that may mean if insurance laws/rules change. Sad to worry about that but the costs are astronomical.
It is difficult enough with worries about your health let alone the huge fees for your insurance. Here in the UK we are very fortunate with health care.
I am BRCA 1 positive- my grandmother died of ovarian but like you no known BC cases. The geneticist said that the mutation can occur spontaneously-so it could be that I am the first to have it and my grandmothers case was just bad luck.Equally it might have come from my Dads side where I have little information. My family tend to have dodgy immune systems...so that probably doesn’t help either.
It’s worth knowing if you carry one of these gene faults- more treatment options and family members can be more closely monitored. Hope you get your appointment with the genetics people but don’t be surprised if it raises more questions! x
Thank you Lyndy.I will be glad when I can speak with the geneticist so I hope that it will not take too long to come through.I'm just worried and would like to know more.Like you I was surprised to have this mutation as neither of my parents lost their lives to cancer.
I am not certain about it occurring spontaneously. I think folks just don’t Know their actual heritage a lot of the time.
Or like me, their parents and grandparents could have died young from other causes and you just never know what mutations they carried.
However, I have another mutation that does occur spontaneously, Hereditary Spherocytosis.
This becomes autosomal dominant and is often more severe in one’s offspring. No one else in my family has it and of course, my daughter has also inherited this.
40 years ago, they did not know much about it, so I did not know it was inherited. They called it “congenital spherocytosis” when I left hospital.
It was only during labour that a young intern saw my scar and informed me that my child would most likely have it, too.
Hi Ann, sorry you have received this news. It has its good side as well as bad. Meeting with the genetics lady was very informative for me, I have BRCA 1, she made up a family tree and recommended my children and sister get tested, so that if they are carriers they will be monitored carefully. Don’t worry about it. Good luck Gini x
I haven't read the other replies so I may be just repeating what they say. When I saw the geneticist they wanted any background info I had on my birth family. Going back on my mothers side there was nothing that indicated BRCA2. I was adopted and had little info on my fathers side. As he was Polish the geneticist thinks it came from that side of the family. I suggested I might be the first one in our family to have the gene because it had to start somewhere but she said no. I haven't been able to get in touch with anyone in Poland but all the family members on my mothers side that I have found have had the test. No one is carrying the gene including my daughter, sisters, nieces and cousins. Just me. So that was a relief. My son hasn't taken the test and he doesn't want to.
I had some genetic investigation done (in Dublin) under public scheme - so I don’t know how in-depth it is. I tested negative for BRCA1 & 2. However my maternal Aunt died at about 50 from OC & I had a maternal 2nd cousin who died from it 2 years ago. They thought that was a lot in one family ( to have OC) So, they felt there must be some form of genetic involvement & want to investigate further - looking at RIP1 I think & another - sorry, I’ve them written down but can’t find them 😳. I’ve to ask families for exact dates of birth & death so cause of deaths can be officially confirmed. I’m just finding it difficult to ask for these details. But it seems there are less investigated genes that may be in play. I feel it’s good to know - perhaps be forewarned even for our sons & daughters. Though I do take someone’s point that in US insurance companies can “load” you, so that’s a n added concern.
Here’s to better health - armed with better knowledge to us all 😊
I must admit I was most surprised!I asked very straight forward questions but his answers were not very informative.He did say he was sending me to a geneticist even before I asked! I am wondering how long the appointment would take.I live in the South West UK.
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