1. Patient Case Studies available:
Gill Marsh, 41
Gill’s great-grandmother, grandmother, great-aunt, aunt and mother all had breast cancer, ovarian cancer, or both. As a result, Gill has an increased risk of developing breast and/or ovarian cancer. She has had genetic counselling, but not a genetic test. By the time she was offered testing, no-one in her family who has had cancer was still alive, which made her ineligible for a genetic test. She does not see this as a problem, however, as she feels testing couldn’t tell her anything more than she knows already. Because of her increased risk of breast cancer, Gill fought to gain access to a breast screening programme. She now attends annual mammograms and has revised her lifestyle. Gill is available for interview.
Malcolm Lucas, 68
Malcolm’s grandfather and nephew died of bowel cancer. His son Stephen, 45, was diagnosed with bowel cancer in 2001 and Malcolm was diagnosed in 2002. Stephen’s children, aged 11 and 16, will start screening when they are 20. Between Malcolm and his four sisters they have 13 grandchildren and 12 great grandchildren who could all be affected. Malcolm is now waiting for genetic counselling and is thinking about genetic testing. Malcolm and his son Stephen are both available for interview.
Mick Mason, 60
Mick, his father and aunt have all had bowel cancer. Mick subsequently had genetic testing, which revealed his cancer was caused by an inherited genetic mutation. His three children then went for genetic counselling and genetic testing. His two sons had not inherited the gene, but his daughter had. She has had her large bowel removed to reduce her risk of cancer. Up to 50 of Mick’s relatives could be affected. When he discovered he carried the gene, he contacted his 13 cousins on his father’s side to explain the implications. Mick is available for interview.
2. Genetic Counselling
Offers advice on personal risk and ways to manage that risk. Genetic counsellors also provide emotional support. CancerBACUP believes everyone with a strong family history of cancer should be offered genetic counselling.
Genetic Testing
Aims to find an inherited gene predisposing a person to a certain type of cancer. A test will only be offered to people with a strong family history of breast, bowel or ovarian cancer as these are the only cancers for which predisposing genes have so far been identified. It is only possible if there is a living relative with one of those cancers who is willing to be tested. A mutation known to be involved in hereditary cancer is identified in just 10-20% of samples.
Even when a mutation is found, risk estimates are notoriously vague. People who have inherited one of the known cancer genes have a greatly increased risk of getting cancer (ranging from around 40 to around 80%), but their risk can still vary according to their own family’s history. Not everyone with a genetic mutation develops cancer.
Dr James Mackay
Dr James Mackay is a Consultant Clinical Genetic Oncologist in the North East Thames Clinical Genetics Service based at the Genetics Unit, Great Ormond Street Hospital and the Institute of Child Health. Dr Mackay is interested in clinical service development and has set up the first regular remote cancer genetics clinic in the world using live teleconferencing technology. His research interests include the evaluation of screening in familial cancer, the effect of genetic variation on treatment response, and development of user and patient information.
For more information during office hours please contact Daisy O’Clee on 0207 920 7219 or Jill Morrell on 0207 920 7220. Outside office hours please call 07973 308 346.
- CancerBACUP is the only national charity that specialises in providing information on all types of cancer.
- All CancerBACUP services are free to cancer patients, their relatives and friends.
- CancerBACUP is part of the Department of Health Coalition for
Cancer Information, which aims to ensure cancer information is of a high standard and widely accessible.
The charity’s interactive website can be found at www.cancerbacup.org.uk