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Understanding BRCA: The breast cancer gene

BRCA (pronounced ‘bracka’) stands for BReast CAncer susceptibility gene. There are two BRCA genes – BRCA1 and BRCA2. These genes function as tumour suppressors, helping to prevent the formation of cancer. When either of these genes carries a mutation, a woman has a high risk of developing breast and ovarian cancer, and men with these mutations are also at increased risk of breast and prostate cancer. Mutations in these genes have also been associated with a small increased risk of several additional types of cancer.

At the age of 35, I was found to carry a harmful mutation in the second breast cancer (BRCA2) gene and statistics suggested that I had a 45-85% chance of developing breast cancer and a 10-30% risk of developing ovarian cancer during my lifetime, which is much higher than in the general population.

Finding out that you carry a BRCA mutation is hard, and if this happens to you, you will have a great many questions that you will feel desperate to find the answers to. I felt overwhelmed and scared of the future that lay ahead. I desperately wanted to connect with other women who were going through the same thing as me and to find answers to my many questions. I looked for a BRCA support group locally, but there were none. I also looked for a book but none seemed to offer what I was looking for. I was eager to meet with the consultants that I had been referred to, but this process takes time and it was frustrating waiting for these appointments. I hoped they would be able to answer all of my questions but, in reality, even the consultants didn’t have all the answers as we do not yet fully understand the BRCA genes and their impact.

I felt very frightened, alone and frustrated that there seemed to be so little help and support and I wanted this to change. I decided, therefore, that once I had come through my own journey, I would write a book with the aim of helping others.

This book aims to improve your understanding of BRCA gene mutations and the various ways in which a carrier can manage his/her mutation, including screening, risk-reducing surgery and chemoprevention, with reference to relevant research. In the last part of this book, I share with you my own personal journey of undergoing risk-reducing surgery, including the removal of my ovaries and fallopian tubes (known as a bilateral salpingo-oophorectomy, pronounced oo-for-ek-tuh-mee) and the removal of my breast tissue while retaining my nipples (known as a bilateral, nipple-sparing mastectomy).

I detail, openly and honestly, the emotions I felt before, during and after my surgeries, along with the physical experience of undergoing these operations and the surgically-induced menopause which follows the removal of both ovaries. I will share the effect, if any, that these operations have had on my body image, identity and sexual functioning.

This book aims to answer the many questions that I personally had, including those that you may feel are simply too uncomfortable to ask. I felt anxious about so many things but, having come through my own journey, I realise now that I needn’t have worried anywhere near as much as I did. I really wish I had known then what I know now; it would have spared me a lot of fear and anxiety.

If you have been found to carry a BRCA gene mutation, I hope that by sharing my journey with you, you will see for yourself that this journey, albeit very tough, may not be as terrifying and as insurmountable as you may be feeling right now. You will get through this – I did and you can too. And, while I appreciate you may not be feeling this way now, you may even be nicely surprised by the positive ways in which this journey may change you as a person.

I am an Advanced-level Human Biology teacher and have experience of teaching both GCSE and Advanced-level (A-level) Human Biology. I also have experience of medical writing and have drawn from both of these skills throughout the writing of this book. My desire to help others has inspired me not only to write this book, but also to set up a website to offer my support to women and men worldwide who have been found to carry, or who believe they may carry, a BRCA1 or BRCA2 gene mutation.

 

This blog was taken from Clarissa Foster’s new book Understanding BRCA: Living with the breast cancer gene is now available on the Hammersmith Health Books website.

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