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Relative Risk: Breast Cancer and Genetics

8 Apr, 2014

B0004874 DNA double helix and sequencing output

Last week the Progress Educational Trust held an event called Relative Risk: Breast Cancer and Genetics, supported by the Wellcome Trust. This was the first event in a series looking at issues surrounding breast cancer, and focused on the genetics and relative risks associated with carrying predictive genes. James Heather attended, and shares a taste of the evening…

In most situations, knowing you have a mutated copy of a gene that is often associated with cancer is a bad thing. Or so I thought, until I attended the Wellcome Trust supported event Relative Risk: Breast Cancer and Genetics where it seemed to many to be a source of camaraderie. ‘Oh you’re BRCA1?’ I overheard one woman excitedly exclaiming to another, ‘I’m BRCA2!’.

For those in the know, this snippet is probably enough information to guess the general theme of the evening: the genetic risk of developing breast cancer. Mutations in the best-studied genes, BRCA1 and BRCA2 (often pronounced ‘bracka’), are associated with a higher risk of developing breast (and ovarian) cancer.

A panel of experts from a range of backgrounds – from policy and fundraising, through practice and research, to personal patient experience of the disease – introduced the discussion.

The first speaker was Baroness Delyth Morgan, Chief Executive of the charity Breast Cancer Campaign, who opened the evening by reminding us all of the need to prioritise funding so as to fill gaps in our understanding of cancer biology.

The next three speakers shared their clinical and research knowledge.

Gareth Evans and Diana Eccles, professors of cancer genetics at the Universities of Manchester and Southampton respectively, spoke about how people tend to discuss and interpret risk. Doctors, we were told, have some work to do in understanding how best to convey risk statistics in terms that people can understand, while bearing in mind that most people’s perception of disease risk will be based heavily on personal experience of the relevant disease.

Wrapping up the medical component was Professor Gordon Wishart, a consultant breast and endocrine surgeon who performs risk reduction surgery for patients at risk of breast and other cancers, such as the surgery opted for by actress Angelina Jolie last year. He explained that while such surgeries tend only to be performed on a relatively small number of women with an extensive family history of breast or ovarian cancer, increased genetic testing for risk-associated genes such as the BRCAs is likely to increase demand. Given how cost- and labour-intensive these surgeries can be, extra resources would have to be found.

Breast cancer cells

Breast Cancer Cells, Credit Anne Weston, LRI, CRUK, Wellcome Images

The final speaker of the evening went beyond the statistics and the abbreviations to shed light on the personal impact of cancer and risk. Kerry Andrew‘s mother died of breast cancer at 35, while her grandmother survived breast cancer at 32 only to succumb to ovarian cancer two decades later. This family history informed Ms Andrew’s decision to undergo a double mastectomy aged 24. As she is the carrier of a BRCA1 mutation, this operation is thought to have dropped her risk of breast cancer from 80% to below 10%.

The introductions, while illuminating, were kept concise to leave time for what felt like the main event – questions from the floor. The response was incredible. The speakers fielded questions from other researchers and clinicians, from the press, and from support groups. But by far the greatest number of questions came from breast cancer patients and their family members – many of the latter, of course, being at increased risk of cancer themselves.

This was probably the most engaged and eager questioning of scientists by the public I’ve ever seen, an inspiring demonstration of affected individuals seeking out knowledge to understand the risks they face. The thirst for knowledge was palpable: questions were asked about everything from insurance to epigenetics, from screening to support.

‘I don’t regret the fact I have this gene’, Ms Andrew told us in her closing remarks, which seemed to resonate strongly with the audience. ‘While this gene is a big part of my life, it’s only a part of my life.’

BRCA mutations were certainly a big part of the lives of many who were present in the room that night, and will remain so. Others will also find that genetics is of personal importance, as our knowledge of risk-associated genes increases and as genetic screening becomes more widely available. All of which makes me glad there are events like this to attend.

The next free-to-attend event in the Wellcome Trust supported ‘Breast Cancer: Chances, Choices and Genetics’ series is Risk Assessment: Breast Cancer, Prediction and Screening, taking place at University College London on Thursday 8th May at 6.30pm.

Top Image credit: Peter Artymiuk, Wellcome Images


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