Breast Cancer Predisposition Gene Carriers - Testing, Epidemiology and Psychosocial studies

Translational Cancer Genetics Team

Section: Section of Cancer Genetics

 

Psychosocial Studies of Predictive Genetic Testing

RA Eeles, A Ardern-Jones; in collaboration with M Watson, M Ormondroyd, Psychological Medicine and Psychology Research Group; R Kenen, College of New Jersey, USA

Our preliminary results of the impact of genetic testing for mutations in BRCA1 and BRCA2 have shown that at 3 years, cancer anxiety and intrusive thoughts about cancer are not increased in gene carriers. We have studied communication patterns in families at high risk of cancer due to a family history and have shown that these differ by gender. A focus group methodology has been conducted to research the issues surrounding the implementation of a BRCA1 genetic test at the time of diagnosis. This will inform on the impact of the integration of cancer genetics into mainstream care. Studies using qualitative methodology are now being extended into men who carry alterations in the breast cancer predisposition genes, BRCA1 and  BRCA2  as these also predispose to prostate cancer.

External Funding - Cancer Research UK, The Institute Haddow Fund.

A Study of the Provision of Care for Carriers of Mutations in BRCA1/2

RA Eeles, L Thomasson, A Ardern-Jones; in collaboration with the IDEAS Knowledge Park, London

The model of provision of care with integrated translational research for carriers of mutations in the BRCA1/2 genes is being studied. A questionnaire was sent to the men and women who attend the BRCA carrier clinic to evaluate their opinion of the service provided by the clinic. The results will be used to establish an optimal care model with an integrated translational research programme throughout London (The Pan Thames Carrier Network).

External Funding: IDEAS Knowledge Park

 

Population-Based Community Studies of Cancer Incidence in Different Ethnic Groups in a General Practice Setting

RA Eeles, L D’Mello; in collaboration with M Ferris (General Practitioner), Edgware, and D Easton, University of Cambridge.

We are determining the incidence of cancer in a population-based study encompassing a GP practice. A pilot study has shown a 1.4-fold increased risk of breast cancer in the Ashkenazim which is not observed in the on-Ashkenazim or Asians. The study is being extended to determine the degree of a positive family history in this population.

External Funding: NOCTEN, The David and Frederick Barclay Foundation

 

An Epidemiological Study of the Interaction of Lifestyle Factors and Germline Mutation in the BRCA1/2 Genes (the EMBRACE study)

RA Eeles, F Lennard, E Bancroft, L D’Mello; in collaboration with D Easton, Cambridge

This study will obtain prospective estimates of cancer incidence in BRCA1/2 mutation carriers and determine lifestyle factors which may modify cancer risk within this population. Questionnaires are used to record lifestyle factors which will be analysed for an interaction with germline mutation status of BRCA1/2 carriers.

External Funding: Cancer Research UK, Monte Carlo Cancer Challenge Fund

 

A Serial Collection of Biological Samples from Individuals with Germline Mutations in the BRCA1/2 Genes

RA Eeles, E Bancroft, L D’Mello, I Locke, S Shanley

Serial samples are being collected of serum, plasma, lymphocytes, and urine annually from BRCA1/2 mutation carriers. Toenails are collected to measure selenium and one skin biopsy is taken to grow skin fibroblasts. A single sample is taken from non-carriers. These samples will be used to investigate new markers of risk, predictors of cancer and genetic and biological associations with risk and cancer development.

External Funding: Cancer Research UK