Knowledge has given me the power to take control and make my own decisions

Picture of Jenanine who is sharing her story about she discovered she has a BRCA gene variant which increases her chance of developing cancer.

Jenanine is 53 and only found out that she carried the BRCA2 gene at Christmas. Since then she’s had a bi-lateral salpingo-oopherectomy, a total hysterectomy and is currently recovering from a double mastectomy to reduce her risk of breast cancer.

Several years ago, Jenanine was invited for a mammogram as part of a random sample of women who were under 50 years old. Without thinking too much about it, she went for the appointment only to be told that she had a fibrous lump.
“They told me these lumps were almost always benign but an alarm bell rang in my head. I knew there had been several cases of cancer on my Dad’s side and my Aunt was going through treatment for breast cancer at that time. So I asked for them to remove it.”

After some persuasion, the lump was removed and was indeed benign much to Jenanine’s relief. It wasn’t until last year that the alarm bell sounded again. A second cousin got in touch with Jenanine’s Aunt to say their daughter, who was in her 30s, had been diagnosed with both breast and ovarian cancer. Genetic testing had showed that she was positive for the BRCA gene variant. Jenanine’s Aunt was invited to have genetic testing by Guys Hospital and the result was negative. Guys Hospital asked her whether there was anyone else in the family that should be offered genetic testing. Jenanine’s Aunt was unsure whether to mention this to Jenanine, but because she had a daughter, she decided she needed tell her.

“My GP referred me to the Family History Clinic at Kent & Canterbury Hospital. The family history nurse listened to me and wanted to hear all about my family history. She helped me to get a referral for genetic testing at Guys Hospital.”

Before anyone has a genetic test, they spend time with a Genetic Counsellor to understand the genetic testing process, but also to explore how they may cope with the outcome of the test.

“I found it really helpful. It was good to have someone take the time to explain what would happen, but also talk about why I wanted to get tested. I wanted to know so I could help my daughter. I couldn’t not go ahead and have the test.”

The test itself was a relatively simple blood test. Jenanine opted to go to her local hospital to give blood. Three weeks later she got a phone call to tell her she was positive for the BRCA2 gene variant which increases her risk of cancer.

“By this point, my Aunt had recovered from breast cancer and as she had tested negative for the BRCA gene variant I had convinced myself that I too would be negative. So the news came as a huge shock.”

Sadly both of her parents had died so they are unable to definitively know which family line the BRCA gene variant has been passed. However, consultants believe that based on Jenanine’s family history of cancer it appears to be on her Dad’s side. There are no cases of cancer on her Mum’s side.

Because her family history included breast, ovarian, prostate and also bowel cancer, Jenanine has decided to have a full hysterectomy followed by a double mastectomy. She’s been to the Hereditary Breast & Ovarian Clinic at Guys Hospital which is fondly known as HBOC. It is here that Jenanine got to talk to surgeons, researchers and psychologists.
“Nothing was too much trouble. I could ask all the questions I wanted and talk through my options. I had already made the decision to have everything removed as quickly as possible so I just wanted to get on with planning my surgeries.”

It was agreed that Jenanine would have bi-lateral salpingo-oopherectomy and total hysterectomy first. This involves the removal of her uterus and cervix as well as her ovaries and Fallopian tubes. Although her risk of both breast and ovarian cancer is increased by the BRCA2 gene, they decided that she could have a mammogram and an MRI to screen for breast cancer. This would give her the reassurance to proceed with the gynaecological surgery.

“Because my father had bowel cancer in his 40’s and I have ulcerative colitis, Lynch Syndrome was also mentioned to me as a possibility by the Gynaecology Oncologist. As I was already having a few odd symptoms myself, we decided to go for a full hysterectomy. I had already had my family and was post menopause so it wasn’t a huge decision for me. I wanted to get everything out. I wanted to get this risk as far away from me as possible.”

Despite great support from her family, Jenanine still had questions that she didn’t know how to get the answers to. Thankfully the Family History Nurse put her in touch with the BRCA Kent group. They offer support and information to people in the same position as Jenanine.
“Without the BRCA Kent group, I don’t know how I would have got through everything on my own. Before I found them, I felt very alone. I’ve been able to chat to people who have had the exact same surgery that I am going to have, even with the same consultant! Now I never feel alone.”

“My daughter already knows that she wants to get tested when she turns 18. Having this knowledge has potentially saved me and her.”

Genetic testing is supported by the South East NHS Genomic Medicine Service which covers Kent, Medway, Sussex, Surrey and South London. Our role is to embed genomics and genetic testing into routine NHS care and ensure everyone can benefit from the new research and technology that is now available.
Jenanine hasn’t had cancer, but she does carry the BRCA gene variant which can increase her risk of developing cancer. Only 10% of breast cancer cases, as well as other cancers such as ovarian and bowel cancer, are caused by an inherited gene.
If people have a strong family history where there are multiple cases of early onset breast or ovarian cancer, then they may benefit from genetic testing. However, if there is no evidence of cancer in the family, then there is no need to have a genetic test.
For people who have the BRCA gene or other risk increasing genetic changes, then other family members can be offered a predictive genetic test to determine their risk.

Leave a Comment

Your email address will not be published. Required fields are marked *

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.