Cancer screening study in Ashkenazi Jewish population

4 November 2008

A team from the Gynaecological Cancer Research Centre at the UCL Institute for Women’s Health in London has launched a new project to identify individuals at increased genetic risk of developing forms of cancer. The Genetic Cancer Prediction through Population Screening (GCaPPS) pilot project has begun from a branch of the high street chemist Boots in Mill Hill, London; it is aiming to recruit volunteers from the local Ashkenazi Jewish population to be tested for genetic predisposition towards specific cancers.

Mutations in the BRCA1 and BRCA2 genes are associated with hereditary breast-ovarian cancer; individuals with such mutations have a substantially increased risk of developing these types of cancer, as well as certain other forms such as prostate cancer in men. Members of the Ashkenazi Jewish population are 10-20 times more likely to carry such a BRCA mutation than the general UK population; up to one in every 40 Ashkenazi Jews have a BRCA mutation. Although there are many different rare mutations that may occur within the large BRCA genes, there are just three specific founder mutations that are particularly common in this population sub-group, making screening practical.

Volunteers must have four Ashkenazi grandparents to be eligible to participate in the study, and will receive genetic counselling before opting for testing; those in whom mutations are identified will receive information about options for the early detection and prevention of cancers, as well as the risks of passing on the predisposition to their children.

The research project, which is the first randomly controlled trial of BRCA gene screening among the Ashkenazi Jewish population, will aim to recruit 1,000 people during the initial pilot phase and a further 9,000 in total, with researchers tracking participants over three years. It is thought that the project may demonstrate universal testing within this population will identify more individuals with BRCA1/2 mutations than the current approach of offering testing only to those with a significant family history of relevant cancers, and it is hoped that a strategy for the prediction and prevention of BRCA-associated cancer.

Director of the UCL Institute for Women’s Health Director Professor Ian Jacobs, who is also the principal investigator for the GCaPPS project, said: “The data from GCaPPS will provide the basis for informed decision-making about the introduction of BRCA population testing in the Ashkenazi Jewish community and other populations” (see press release). The research project is supported by The Eve Appeal, and Jewish organisations including Jewish Care and Norwood, as well as Boots.

Members of the Ashkenazi Jewish population are also at increased risk of another form of genetic disease, a serious neurological disorder called Tay Sachs Disease; a review of the current Tay Sachs screening programme for the National Screening Committee by the PHG Foundation and Guy’s Hospital, London will be completed at the end of this year.

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