Brca1 diagnosis

[Northenlights]

Hello Living with cancer has had its challenges, as part of a research project was asked to test for Brca mutation and was shocked when in came back positive. I need help on dealing with this telling family and getting support for me and them ?

[Lindaura]

Dear Northern Lights,

I can only assume that you are living with Ovarian Cancer at this time.

And I am so sorry to hear that. It is definitely a struggle for all of us.

I am also assuming that, if you have not yet, you will be receiving genetic counselling. During your counselling, you can find out exactly what testing positive means to you and you can follow up with questions to your consultant.

Once you have Ovarian cancer, being positive to BRCA1 or 2, actually is a two edged sword.

It makes you much more susceptible to Breast Cancer, and some other cancers, but there are risk reduction options now available to you, and your family.

In addition, the other side, the blessing part, is that you should be more responsive to treatment as well as now opening up targeted treatment options, such as the PARP inhibitors, like Olaparib and Niraparib.

As a genetic disorder, there is a 50/50 chance of your siblings and offspring inheriting the mutations, so everyone should probably be tested.

Telling adult children about this is hard, so it is actually good to have them perhaps accompany you to counselling.

Whoever inherits the mutation will also be given risk reduction options.

It’s a lot to think about.

Here are some websites that might help:

ncbi.nlm.nih.gov/pmc/articl...

targetovariancancer.org.uk/...

Hope this helps,

Laura

[claireRoberts76 in reply to Lindaura]

hello laura.. does having ppc or o/c mean you will test positive or is this also 50/50 xx

[Lindaura in reply to claireRoberts76]

If you already have a reproductive cancer, you might already have the genetic mutation, but this is hereditary, so chances of inheriting the mutation all depends on genetics, period.

It makes sense, if your mother has the mutation, that you could inherit it, but it’s just the luck of the draw.

Sorry,

Laura

[claireRoberts76 in reply to Lindaura]

so scared of all this...thank you x

[Lyndy]

Hi there.. I am also BRCA 1.... I got lots of information from the geneticist at Addenbrookes who did my test and there are a number of online support groups and publications you can look at. I would take your time...you can tell family members that you have tested positive and that this might have implications for them. I was sent a letter from the geneticist which I could use to send to family. In turn they had the option to show this to their GP.

The frightening bit that people focus on is the advice to have mastectomy and hysterectomy at an early age for women. This is a very drastic option and risk may be managed in a less invasive way-so it may help to allay fears. Also as one of the most studied populations we BRCA positive people will benefit from some of the gene editing techniques being developed in the future- so the situation is changing all the time. Good luck with it! x

[Northenlights in reply to Lyndy]

Thank you Lyndy this is the sort of balanced thought processes i need. Everything else i read before was surgery and this ultimately maybe what my girls choose but at 18 and 21 they have a long road ahead.

[RonLitBer]

I don't know where you are located but I am surprised that germline BRCA mutation testing was done as a part of a research project as all ovarian cancer patients (and some other cancer patients as well) should be tested because of the possible impact it may have on family members. This site may be helpful.

facingourrisk.org/index.php

[Hidden in reply to RonLitBer]

Hello, I was also only offered testing as part of a trial at the Freeman. It was being funded by one of the drug companies. It is not a given in the North East of England.

[Seasun36-uk in reply to RonLitBer]

Unfortunately, in the UK (apart from the Marsden I think), BRCA testing has to be requested by the patient. It may well change in the future (we hope!)

[Lindaura in reply to Seasun36-uk]

I have said this before, but I think it is criminal not to test all of us as soon as we receive a confirmed diagnosis.

And really, I think everyone of us should be asked if we might have one or more parents with Eastern European heritage, as a matter of course, when we are 40 years old or older, and if yes, we should be offered the test.

If risk reduction steps are taken, we can escape this curse.

There are probably steps being taken now, to sort this out, but I wish they would hurry!

Hugs,

Laura

[March2017 in reply to Seasun36-uk]

Im treated at Mount Vernon Hospital and it is offered to everyone regardless

[Northenlights]

Hi i think if you have family history it is more likly to be done but i havent and no one had mentioned it to me before this research trail. Thamk

[RonLitBer in reply to Northenlights]

BRCA 1 and 2 are the most well known mutations and the ones that have been known for some time. Newer mutations are now coming to the foreground that are being tested for as germline mutations. This is the list that is now being tested for at the cancer centre that I go to irrespective if you have low or high grade:

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM*, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2*, PTEN, RAD51C, RAD51D, STK11, TP53.

If you have any of these as germline mutations they are also transmittable to offspring and family members may have them.

It really is shocking and I would agree with Laura "criminal" that women who have disease are not being tested. This has been available for many years now (1994 for BRCA1 and 1995 for BRCA 2).

[Eriksendi]

I have stage 3 PPC/ovarian cancer and there is no family history. I am being treated at the Royal Surrey and was offered this test during my frontline treatment. I did not request this . The testing was done at my local hospital and a genetics specialist came down from St. George’s, Tooting and went through family history/counselling etc.

[mrstadpole]

I was asked if I would take part in a trial to have my genome mapped just before I went down to theatre in January 2018.They said it could take about a year to receive results.I heard about a month ago that I tested positive for BRCA2.I would not have asked to be tested as there in no history of breast cancer in any of the family and only maternal grandmother had Ovarian cancer.

I really feel now that everyone with OC should have genetic testing.

When I asked my consultant about testing he said someone presenting with my history would not normally have had genetic testing!

[Northenlights]

Hi mrstadpole i am unsure about testing routinely , it is not just about us , my husband is angry he feels it means our daughters are going to have to live there whole lives with cancer threatening them making choices that are life changing /altering . He is quiet clear in his opinion it would be better to not know about the brca and just have the increased awareness and if any concerns see your gp. You can never un know it .

[RonLitBer in reply to Northenlights]

I was tested many years prior to my diagnosis for BRCA 1&2 and was found to be negative for the mutations. Ironically, I got the disease which was found at 61. Sometimes finding out that you test negative gives a false sense of security. Family history for the disease is also not always available. Many of my relatives passed away prior to my birth due to the 2nd World War so I have been unable to find out if any of them either had or would have had the disease as they died early in life. I think finding out that you are positive throws everyone for a loop and makes for some difficult decisions but my own feeling is that if there is any way to avoid this I would grab it.

[Rachael47]

My daughter was tested when I proved positive for BRIP1. My mother died of OC in 1980. Random other relatives had something which was probably OC but before diagnosis. Daughter had fallopean tubes and ovaries removed on Monday. She is 49 so fertility wasn't a problem.

[Northenlights]

Thank you 😊 it is the sharing that i am finding so helpful on the forum 😊

[Artgreen]

I’m hoping to get genetic testing done but our hospital doesn’t do it apparently. Only recently found out that there was more cancer in the family than previously thought.

[Jac112]

Hi Northern Lights, I too have had ovarian cancer and a BRAC1 diagnosis. I was referred to Guy's Hospital for a genetic test after I told my oncologist my mother had had breast cancer. There is a national BRAC 1 and 2 support group on FB which is really useful and local groups for support depending on where you live! I have attended one in Brighton which is growing from strength to strength, lots of informative talks from expert speakers and masses of support from women 'all in the same boat'! With best wishes to you and your family x

[Northenlights in reply to Jac112]

Thank you will talw a look at that 💐

[Puggle]

Hi northenlights, just wanted to reply from a different perspective. I’m 35, have never had cancer and have the brca1 mutation. I joined this forum a few years ago when my mother was diagnosed with ppc (primary peritoneal cancer) stage 3c. She was diagnosed in 2012, had a recurrence in 2015 and has been on avastin for over 2 years now and doing very well. In 2012/2013 I mentioned to her oncologist about possibly having genetic testing as her sister had passed away from the same cancer many years earlier. At the time he felt it was coincidental as they were both post menopausal at time of diagnosis. I asked again in 2016 and he said research had changed and if there is even 1 occurance of ovarian ca in a family genetic testing is warranted. We were shocked when my mother tested positive. My siblings and I all opted to be tested and out of 6 of us, 3 of us have the mutation..2 brothers and myself.

Yes it was an upset to find out and ignorance is bliss but my most prevalent feeling is that of being grateful. I will forever be grateful to my mother for finding out. I now have the knowledge to look after myself and hopefully I will never have to face the same journeys as most people here. I have 3 young daughters myself and hopefully they will never have to see me with cancer and hopefully I will get to see them live their lives. Currently I am doing surveillance. I am just finished my family and so have opted to have my Fallopian tubes out later this year (surgery is recommended between age 35-40 for brca 1). I will remove ovaries at 40 (trying to delay menopause for as long as possible). I am on the fence regarding breast surgery because regular screening is excellent. Even if I never opted to have surgery I think knowing I’m brca is beneficial in that if I was presenting to a Gp with the vague symptoms women with ovarian cancer typically have in the early stages I would be taken much more seriously and they would immediately be ordering scans/blood tests etc to outrule ovarian cancer. My own mother was months attending her Gp before her diagnosis.

It is scary being a mother knowing I might have passed this on and I know my own mother feels huge guilt. The experts do think however that in the not too distant future there will be a much simpler way of preventing brca cancers than risk reducing surgery. So perhaps by the time your children are at that stage there will be other options. Fingers crossed.

I feel I tested at good time in my life..I was already married and settled and had started a family. I do fear that my daughters knowing early..at 18 or so might not be great. I would hate them to make life decisions based on testing positive..maybe settling down early with the wrong partner in order to have children earlier etc.

On a positive note for you as someone mentioned above..women with the brca mutation tend to respond better to chemotherapy and newer targeted drugs become an option. My mother is now eligible for PARB inhibitors whenever she next needs chemo. I am amazed at the advances being made all the time.

My mother was given a letter to send to family members and we were given a booklet explaining brca which we photocopied and sent to cousins etc. it is up to each individual to decide if they want to test or not. Hopefully you can see a genetic counselor that can help you with this.

Facing our risk website is a great resource.

The Facebook pages are great too but can also be a bit overwhelming in the beginning regarding surgery etc.

Good luck with everything x

[Northenlights]

Good Morning Puggle thank you so much for your message it has helped me look at the Brca from others (my daughters) perspective and see that the way forward is not all doom and gloom 💐 thank you