In focus: hereditary ovarian cancer - introduction

[OvacomeSupport]

Hello

This month in our ‘Health in Focus’ posts, we’ll be looking at hereditary risks for ovarian cancer and genetic testing. We’re often asked about these topics in our support service and hope that these posts will be a helpful starting point if you want to explore them further.

Our cells contain a complete instruction manual that tells them how to make the proteins that they need to carry out their different functions. This is the genetic code in our DNA. Each gene in the code is a blueprint for a different protein. When a cell needs to make a protein, it reads the gene and puts the protein together.

You can find out more about how genes are translated into proteins at bbc.co.uk/bitesize/guides/z... and in this video youtube.com/watch?v=JJuMyPj...(Not working as expected?)

Sometimes a change can occur to a gene, for example due to a copying error when the cell divides or from environmental factors such as exposure to cigarette smoke or radiation. These changes are called mutations. Some mutations affect the structure of the protein so that it doesn’t work properly or is inactive.

Mutations that increase the risk of cancer often affect genes for proteins involved in preventing tumours. For example the BRCA genes (which we’ll look at in more detail in a future post) are translated into proteins that help to repair DNA damage. Therefore, if one of these proteins isn’t working, damage can build up in the cell’s DNA so that it starts to multiply out of control and develops into a tumour. You can watch a video about how some mutations cause cancer at youtube.com/watch?v=8BJ8_5G...(Not working as expected?)

Increased hereditary risk of ovarian cancer occurs in people who have inherited genetic mutations from one or both of their parents. The mutations were present in their mother’s egg and/or their father’s sperm.

You can read more about some of the inherited mutations associated with ovarian cancer at ovarian.org.uk/ovarian-canc... and facingourrisk.org/understan...

If you’re diagnosed with high grade serous ovarian cancer, you are likely to be offered ‘BRCA’ mutation testing, as the current guidelines (nice.org.uk/guidance/cg164/... recommend it. You should also be offered genetic counselling.

You can find more information and resources on hereditary ovarian cancer, BRCA mutations and Lynch Syndrome at ovarian.org.uk/ovarian-canc...

If you would like to share your experiences of genetic testing, please comment on this post. If you would like information or support, please contact our Support Line on 0800 008 7054 or email [e-mail].

Best wishes

Julia (Ovacome Support Services Officer)

[Wasginger090658]

I was a super fit, hardworking woman who never abused my body, I don't smoke and never have inspite of living in a smoking household, I don't drink alcohol apart from maybe 3 small glasses of wine "per year" to celebrate my birthday, my husbands birthday and our wedding anniversary, I have always been very active and a healthy weight.

I developed grade 4 high grade serous metastisised Ovarian/Peritoneal cancer in October 2017 and am currently on 3rd line chemotherapy.

I discovered I had a faulty BRCA2 mutation in 2018 which was a huge shock. Although I have lost 5 members of my family to various cancers the only other person that died from cancer was my aunt on my mothers side of our family. In those days (some 45 plus years ago) such things were never discussed, the conversation would go something like "when she was operated there was nothing that could be done!!"

Now as an adult in my current position I wonder if my aunt carried the faulty BRCA gene and I inherited it!!

Both my younger siblings have tested negative and I truely hope that the misery caused ends with me. I have no intention whatsoever in giving in to this vile, life changing, debilitating disease and consider myself lucky in the extreme that I have a fantastic consultant and oncology team who I trust implicitly and that we have and continue to develop medication that although wont cure the cancer enables me to live a managed life.

[OvacomeSupport Partner My Ovacome Team in reply to Wasginger090658]

Hello Wasginger090658

Thank you very much for sharing your experiences. If there's something that we can help with, or if it would help to talk anything through, please get in touch with out Support Team.

Best wishes

Julia (Ovacome Support)