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Relative Risk: Breast Cancer and Genetics

7 April 2014
Appeared in BioNews 749

Angelina Jolie's breasts were surgically removed last year. Jolie carries a 'faulty' BRCA1 gene, magnifying her risk of developing breast and ovarian cancer. Given her mother died of ovarian cancer in her mid-50s, Jolie opted for risk-reducing surgery. The actor's story was the inspiration behind 'Relative Risk: Breast Cancer and Genetics' - the first of four events organised by the Progress Educational Trust (PET) and supported by the Wellcome Trust as part of the 'Breast Cancer: Chances, Choices and Genetics' project.

Dr Christine Patch, a trustee of PET and consultant genetic counsellor, chaired this 'interactive' event in which a lively audience engaged with an equally lively panel of experts.

The panel kicked things off. Baroness Delyth Morgan, chief executive of the charity Breast Cancer Campaign, spoke about how understanding genetics is 'critical' to overcoming and preventing the disease. Baroness Morgan also introduced two topics that played a pivotal role in the evening: risk and screening.

Three clinicians followed. Professor Gareth Evans explained what relative risk means and the best ways of helping patients understand it. Perhaps it was just my overly-liberal sensitivities (or overly-sensitive liberalities) but I did cringe at his insistence in telling us 'what women understand' about risk. But there was something quite gloriously sincere about him that maybe must be forgiven.

Professor Diana Eccles talked about the differences between the oft-quoted average risks compared to the 'very moderately precise' calculations of individual risk. My inner anthropologist perked up at her comments on how expectations, culture, and personal and family history shape someone's motivations for seeking preventative surgery. What we bring in to our GP's office affects - and limits - the options available to us. As, indeed, does a GP's own experiences. These I find to be subtly disconcerting thoughts.

The last of the clinicians was Professor Gordon Wishart, a surgeon who took us through a cut-by-cut account of a mastectomy. (Around this point, I realised I'd been mispronouncing the word all this time.) It made for uncomfortable listening, especially delivered in his calm Scottish tones. As stomachs settled, Professor Wishart described how he thought preventative surgery was a 'proportionate and appropriate choice' for certain people.

Such people included the last of the panel members, Kerry Andrew. Ms Andrew's mother and grandmother both developed breast cancer at young ages. Having inherited a BRCA1 mutation, she underwent preventative surgery at the age of 24. She spoke about how the discovery of pre-cancerous cells following surgery confirmed for her this was the right decision. Ms Andrew also touched on the (currently uncommon) practice of embryonic screening for BRCA mutations, saying, 'the gene is a big part of my life but only a part of my life'.

Next came the audience's turn to put their questions, comments and stories to the panel (and, I think, to one another).

Access to screening was a big concern: the 'best' ages to begin and end screening, the reluctance to stop screening low-risk women, and whether or not screening should be stratified. This topic generated a lot of chatter and concern among the audience members who shared their stories of living with BRCA mutations, of their mastectomies and oophorectomies.

Baroness Morgan made the important point that all screening procedures produce some proportion of false positives and false negatives. There is harm in over-diagnosis leading to over-treatment, especially - as Professor Wishart pointed out - when restricted resources mean an increase in preventative surgery might reduce the availability of surgery for treatment.

My experience of cancer is limited and indirect (I can't even pronounce 'mastectomy', apparently). For that, I consider myself lucky to have felt like an outsider at this event. Up until now, BRCA was just an abstract concept, a disembodied gene. Hearing people speaking with candour about carrying mutations, what it meant to them and what it means to their families was so eye-opening.

What happens when you find out you're a carrier? How do you begin to comprehend the ways this information might change your life? How do you tell your family, especially your children who might inherit the mutations? I cannot hope to do these questions justice here, beyond raising them in your mind.

It made my nerdy heart swell to see the clinicians and the audience grappling with these difficult topics - and I mean difficult not just conceptually, but emotionally. As someone who merely writes about genetics, it's such an illuminating shock to be confronted with the sheer humanity of it all.

Cancer scares me. My way of dealing with the discomfort has always been through distance and ignorance, but that's not good enough. Others tackle it head on, unshirking and with vigour. They have faced the harshest realities and the hardest decisions. Go to the next event and sit among them. This evening was all the better for their fearlessness and their voices.

Have your say about breast cancer and genetic testing, by taking a minute to complete the Breast Cancer Poll on BioNews here.

24 August 2015 - by Professor Sandy Raeburn 
Over 30 years ago, those who taught clinical genetics to medical students and other health professionals focussed on the triple difficulty of explaining a genetic disease, its inheritance pattern and its scientific basis. Now, there is a growing literature of personal memoirs, wonderfully exemplified by this splendid monograph...
7 July 2014 - by Dr Nicola Davis 
The Progress Educational Trust's enlightening series of events on breast cancer came to a close on Thursday with 'Breast cancer risk: Facts, fiction and the future'....
9 June 2014 - by Simon Hazelwood-Smith 
The backdrop to the third event in the Progress Educational Trust's 'Breast Cancer: Chances, Choices and Genetics' series was the Myriad Genetics gene patenting legal saga, which came to a conclusion last year with Myriad being denied a patent on the isolated forms of the BRCA genes...
28 May 2014 - by Dr Ann Robinson 
As a GP in North London, I see the ravaging effects of breast cancer in young women. Each patient sticks in my mind as their illness traumatises the whole family...
19 May 2014 - by Kerry Andrew 
Ten years ago, aged just 24, I tested positive for a high-cancer-risk BRCA1 mutation. Six months later, I underwent a preventative double mastectomy with reconstructive surgery...
31 March 2014 - by Dr Sarah Spain 
BRCA1 mutations put carriers at high risk of cancer by failing to protect cells against the effects of high levels of oestrogen hormone found in breast and ovary tissue, researchers have established...
31 March 2014 - by Dr Caroline Dalton 
As we learn more, and as technologies develop, there are continuing challenges for the NHS to meet in providing the best possible care for people at risk of familial breast cancer...
10 February 2014 - by Dr Barbara Kramarz 
Whole genome testing has been used to guide tailored treatment against advanced breast cancer in a group of 43 patients. The scientists behind the study say their research is a step on the path towards 'personalised medicine' where individual genetic makeup informs treatment choice...
2 December 2013 - by Dr Charlotte Warren-Gash 
Women from families with a history of carrying the cancer risk gene BRCA2, but who test negative for it, may be at higher risk of breast cancer than previously thought...
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