Research News: members of the Jewish community from all denominations were as open to getting BRCA testing when offered.

Today, research by Prof Manchanda was published in BJOG, which found that members of the Jewish community from all denominations were as open to getting BRCA testing when offered. Caroline Presho blogs about finding out she has a BRCA gene alteration and what it would mean to have population-wide BRCA testing in the Jewish community.

Being part of the Jewish community is a wonderful Mitzvah (blessing).  We have a rich history, which includes times of great suffering and times of intense celebration.  I feel lucky that my heritage allows me to gorge on doughnuts at Chanukah, get together around the dinner table with my family to eat and sing songs and did I mention the food?

Unfortunately, my Jewish heritage also brings with it an unpleasant legacy – a legacy that is represented by 4 simple letters which have a huge impact on my life and that of every member of my family. Those 4 letters are B R C A.

Both men and women have BRCA1 and BRCA2 genes – their role is to suppress tumours. They work a bit like a DNA spellchecker and make sure that if there are any mistakes in your DNA sequence that could cause tumours, they are repaired. In the case of those of us who carry an alteration (or mutation) in one or both of our BRCA genes, we are at high risk of developing a number of cancers. Breast cancer and ovarian cancer are the most well-known cancers in women and people assigned female at birth, but people with BRCA alterations are also at risk of pancreatic cancer and melanoma (skin cancer).  Men and people assigned male at birth can also develop breast cancer as they have breast tissue and BRCA2 alterations infer a high risk of aggressive prostate cancer. The risks that accompany a BRCA alteration are as high as a 90% lifetime risk of developing breast cancer and up to 60% lifetime risk of developing ovarian cancer for a woman with a BRCA1 mutation*.

In the general population, 1 in 200-300 people will carry a BRCA alteration, however in the Ashkenazi Jewish population that number rises to 1 in 40 people! That is a dramatic jump in numbers within our community. A BRCA alteration can be passed down the male or female line – mine is from dad and we believe he inherited his alteration from his mum – parents have a 50% chance of passing a mutation onto their children.

My family found out about BRCA alteration in 2002 – in what I call the dark ages of BRCA. No celebrities had come out to talk about their experiences of carrying a hereditary cancer alteration and all I knew was that so many of my relatives had gone on to develop cancer. I distinctly remember looking in the mirror one day, after my mum was diagnosed with cancer for the second time and saying to myself that I knew that I would get cancer one day.

Not long afterwards, my paternal aunt was diagnosed with ovarian cancer – not unusual for a woman in her 70s, but the type of ovarian cancer that my aunt had, coupled with the fact that her mother had developed breast cancer in her 40s and crucially the fact that her family were Jews from the Ukraine and Russia, so of Ashkenazi descent, rang alarm bells for her oncology team.

She was immediately sent for BRCA genetic testing as the risk of being Jewish and carrying a BRCA alteration is nearly 10 times higher than that of the general population. You may wonder what difference testing would make to my aunt after her diagnosis of ovarian cancer – the answer is a HUGE difference.

On one hand, she could arm the family with the power of knowledge. We could all go and get genetic testing to see whether we were at risk and make preventative decisions based on the outcome of the tests. On the other hand her treatment could be tailored based on the fact that she carried a BRCA alteration – platinum based chemotherapy would work better for her.

Just like my aunt and my dad, my sister and I found out that we were both BRCA alteration carriers. I never considered how much a tiny vial of blood could make such an enormous difference to my life. Going from a 13% lifetime risk of developing breast cancer to approximately 85% was a huge shock and presented me with all sorts of dilemmas. However, I was so grateful for the knowledge, as it gave me the opportunity to make informed choices about my health and avoid a cancer diagnosis as far as that would be possible.

I decided to have a risk-reducing bilateral mastectomy, which reduced my risk of developing breast cancer to around 5% – that figure is lower than a woman in the general population. My other big fear was ovarian cancer, often called ‘The Silent Killer’ as the symptoms are so vague and hard to spot that it is often diagnosed as something more innocuous like Irritable Bowel Syndrome. Having the knowledge that I was at increased risk of a diagnosis of ovarian cancer, spurred me on to make the decision to have my ovaries and fallopian tubes removed. I felt like I could be proactive and have surgery on my terms when it was preventative, not when it was curative.

If all members of the Jewish community were offered the same chance I was, then not only would they and their families be spared the thousands of diagnoses of cancer each year, but the NHS could save a vast amount of money by carrying out preventative surgeries rather than chemotherapy, radiotherapy, surgery and all the care that goes with a cancer diagnosis.

Prof Manchanda’s research, published today in the British Journal of Obstetrics and Gynaecology (BJOG), found that Jewish people from all denominations were equally open to BRCA testing when it was offered- from Conservative, to Liberal, Reform, Traditional, and Orthodox Jews. I can only dream of a world where my children won’t be looking in the mirror like I did, thinking that they will get cancer like past generations have. The opportunity of genetic testing for BRCA alterations within the Jewish community as a whole would offer them this dream, and my community has spoken- we want to be tested.

Prof Ranjit Manchanda, Lead Author of this research, says: “Our findings strongly support offering BRCA gene testing across the entire Jewish population, beyond just the current criteria-based approach. Our research has shown this is acceptable, safe, effective, prevents cancers, doesn’t detrimentally impact psychological health or quality of life and is cost saving for the NHS. It is critical that this approach is introduced into the NHS and policy and guidelines are changed to reflect this. It is wrong to need to wait for women to get cancer to identify other family members in whom to prevent it. A woman with a BRCA alteration getting ovarian or breast cancer is a failure of cancer prevention.”

You can read Ranjit’s paper at BJOG on this link.