Research Interests

Genetic Susceptibility to Breast and Ovarian Cancer

Breast Cancer is now the commonest cancer in women affecting 1 in 8 women in the UK. Genetic factors are important in causing breast cancer and the disease is twice as common in first-degree relatives of affected women. Ovarian cancer is the fifth most common cancer in women and can also shows familial aggregation. We are collecting families through Cancer Genetics clinic in the UK with breast and/or ovarian cancer which we use in research to identify the genetic causes of female cancers. We have several thousand families and we have successfully used these to identify many genetic variants that predispose to these cancers. These include rare genes with high risks of disease, such as BRCA2, genes with moderate risks, such as CHEK2, ATM, BRIP1 and PALB2, and common variants with small increases in risk.

Our aim is to make use of the latest technological advancements in our unique sample series to elucidate the genetic architecture of breast and ovarian cancer. We are committed to translating our findings into clinical practice and we develop clinical protocols which we use in our Clinical service and which are also used more broadly.

Childhood Cancer Susceptibility Genes

Through the Factors Associated with Childhood Cancer (FACT) study we are recruiting childhood cancer cases throughout the UK and beyond which we use to identify genes that cause cancer. We use a variety of approaches. We have a strong focus on investigating rare syndromes and familial cases, which we have successfully used to identify several genes, including BUB1B, which causes aneuploidy and cancer in childhood and PALB2 which causes a form on Fanconi anemia.

We have a particular focus on childhood solid tumors such as Wilms tumor, neuroblastoma and medulloblastoma and we have made several genetic discoveries in these areas. We aim to use the latest technologies in our unique sample resources to elucidate the genetic causes of childhood cancers and to implement these in clinical practice, through the specialised childhood cancer genetic clinics and clinical protocols.

Childhood Overgrowth Genes

Childhood overgrowth syndromes affect at least 1 in 10,000 children and are characterised by advanced height and head circumference, together with a variety of medical and developmental problems. Childhood overgrowth conditions are sometimes associated with an increased risk of cancer, particularly embryonal tumours. Through collaboration with Clinical Genetics departments we are collecting cases to identify the molecular causes of the overgrowth conditions, to clarify the phenotypic spectrum of overgrowth conditions and to produce guidelines for their management. We have had a major focus on Sotos syndrome and asymmetric growth conditions and we are particularly focussed on trying to identify new causes of overgrowth.

Genetic Susceptibility to Testicular Germ Cell Tumour

Testicular germ cell tumour (TGCT) is the most common cancer in men aged 15–45 years and affects nearly 2,000 men in the UK per year. Family history is an important risk factor for the disease.  If a man has a brother who has suffered testicular cancer, his risk of developing the disease is 8-10 fold increased compared to a man without any family history of disease. This risk is much higher than the equivalent risks for most other cancer types (typically 2-3 fold elevated).  These observations indicate that genes are important in causing testicular cancer.

We recruit men with testicular cancer from throughout the UK and internationally and we use these samples to identify genetic causes of testicular cancer.

Clinical Cancer Genetics Team

The Clinical Cancer Genetics Unit at RMH is integrated within the academic research environment at ICR, which facilitates rapid implementation of new genetic findings into clinical practice and offers unique opportunities to undertake clinical genetics research. We run general adult cancer genetic clinics and specialist clinics in childhood cancer genetics, and for BRCA carriers. We have close relationship with the SW regional genetic service at St Georges and with the other genetic departments in London. We are committed to developing and improving clinical protocols that maximise the use or recent scientific discoveries and the latest technologies.

Wilms Tumour Surveillance Group  

In 2004 a working group of Clinical Geneticists (Eamonn Maher, Nazneen Rahman, Lisa Walker), Paediatricians (Alan Craft), Paediatric Oncologists (Kathryn Pritchard-Jones, Gill Levitt) and Radiologists (Ian Kenney, Cathrine M. Owens, Øystein E. Olsen) was formed to produce guidelines for Wilms tumour surveillance, based on a review of current practice and available evidence.

To see these recommendations download the best practice document:
Surveillance for Wilms Tumor in At-risk Individuals: Pragmatic recommendations for best practice