Gene testing in rare tumour type could uncover ‘cancer families’ 

08/08/2016 00:00 
A team, including researchers at UCLH, the Institute of Cancer Research, London, and the Royal Marsden NHS Foundation Trust, led internationally by researchers at Garvan Institute of Medical Research in Australia, studied patients with rare cancers called sarcoma to shed light on the genetic causes of multiple cancers within families.
 
This study gives us the most detailed picture yet of the genetics of sarcoma patients, and reveals that in a significant proportion there may be a genetic cause for this rare cancer, and other, more common types of the disease.

A study, published in The Lancet Oncology, has discovered why some families are affected by many different types of cancer, and that the inherited mutations could become targets for treatments.

Dr Beatrice Seddon, clinical oncologist, who led the research for UCLH, said: “This joint work is an important step towards understanding better sarcoma genetics. This is the first evidence that multiple genetic mutations interacting could be causing sarcomas in some patients, rather than a single gene driving their disease.”

The research found that over half of 1,162 patients with sarcoma tested were born with mutations in at least one gene already known to increase cancer risk. It also found that 19 per cent of the patients had mutations that could be targeted by new or existing cancer drugs and could point the way towards clinical trials in sarcoma patients.

Some of the most common inherited mutations occurred in genes known to drive the development of multiple tumour types - p53, APC, BRCA1 and BRCA2 - putting these patients at increased risk of other cancers such as breast, ovarian or bowel cancer. When such mutations are found, families can be offered genetic counselling and screening, where appropriate.

Current UK project leader Professor Winette van der Graaf, Professor of Personalised Oncology at the Institute of Cancer Research, London, and consultant at the Royal Marsden NHS Foundation Trust, said: "This study gives us the most detailed picture yet of the genetics of sarcoma patients, and reveals that in a significant proportion there may be a genetic cause for this rare cancer, and other, more common types of the disease. The research helps explain why some patients with sarcoma are prone to develop other cancers in their lifetime, and provides new clues to the phenomenon of 'cancer families'."

Study co-author Professor Ian Judson, who led the UK arm of the study at the Institute of Cancer Research, London, and the Royal Marsden, said: "Sarcomas are rare types of cancer that disproportionately affect the young, have low survival rates and in which there are currently few treatment options available. This important study has uncovered mutations occurring in some sarcoma patients that could potentially be targeted by precision treatments, opening up new avenues for treatment that should be investigated in clinical trials. It's also fascinating that this study has shed light on the inheritance of cancer risk in families more widely, and offers clues to explaining why some families are affected by many different cancer types."

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