Consultant Clinical Geneticists: Dr Mark Tein – Research Lead
                                                   Dr Cyril Chapman
                                                   Dr Kai-Ren Ong
                                                   Dr Trevor Cole
                                                   Dr Saba Sharif
                                                   Dr Emma Woodward

Cancer Genetic Counsellors:     Anna Considine
                                                  Lucy Burgess
                                                  Laura Boyes
                                                  Andrew Cuthbert
                                                  Tricia Heaton
                                                  Phil Leonard
                                                  Cathryn Scott
                                                  Gayle Vincent

Cancer Study Co-ordinator:     Jonathan Hoffman


Affiliated University of Birmingham staff:
                                                Professor Eamon Maher
                                                Dr Derek Lim
                                                Dr Chirag Patel
                                                Lynn Martin (CORGI study Co-ordinator)

West Midlands Family Cancer Strategy (cancer genetics department)

Guidelines for clinical referrals

Cancer Genetics Department

The cancer genetics department is part of the West Midlands Regional Genetics Service, which is based in Birmingham Women’s Hospital and consists of a specialised team of Clinical Geneticists, Genetic Counsellors and administrative staff.

Referrals are received from GPs, Oncologists and other health professionals concerned about patients who present with a personal or family history of cancer. Patients are assessed and stratified according to their risk and recommended screening accordingly. The highest risk patients may be offered a test for a specific gene mutation.

The genes for which genetic testing is most commonly offered are:

Breast
BRCA1, BRCA2 (Hereditary Breast and Ovarian Cancer)

Bowel
MLH1, MSH2, MSH6, PMS2 (Hereditary Non Polyposis Colorectal Cancer (HNPCC or Lynch syndrome)
APC (Familial Adenomatous Polyposis)
MYH (MYH associated polyposis of the colon)

In addition to this there are numerous identified genes associated with other rarer cancer predisposing syndromes.

The field of cancer genetics is a relatively new and specialist branch of genetic medicine and, as such, is constantly evolving with much still to learn. Consequently, cancer genetics is an active area of research.

Whilst a number of  single gene cancer causing (strongly acting) alterations have been identified (above), Identified cancer-predisposing gene mutations only account for a small proportion of cancers. Unfortunately, this means that a large proportion of cancers that appear to run in families are unexplained. It is hypothesised that these ‘moderate risk’ families can be explained by interactions between a number of gene variants which individually confer a small increase in risk. There is considerable research currently being undertaken to try to identify these contributing genes, as well as yet unknown single cancer causing genes (strongly acting gene alterations).

Other active areas of research involve looking at patients where specific gene alterations have been found and following these patients epidemiologically. These studies provide useful information about the level of risk that these predisposing conditions confer, the nature of tumours that might arise in these populations, as well as the influence of ‘lifestyle’ factors in disease development and progression.

Early detection or prevention of disease is one of the key aims of cancer genetic medicine. Interventions and screening methods for patients carrying these high risk genes is, therefore, another active area of research. Pharmacogenetic research has shown evidence that some cancers resulting from these predisposing gene mutations may be more or less responsive to certain forms of treatments. There is also some early evidence that certain drugs may have prophylactic effects against developing cancers in these high risk groups, and this is an exciting emerging area of research.

AFFECT - Examination of affected tissue of BRCA1 variant carriers
       
EMBRACE - Epidemiological study of familial breast cancer
                
FBCS - Identification and molecular analyses of families with susceptibility to breast cancer
          

CORGI - The Genetic Study of Colorectal Cancer Families without known inherited predispositions
                        

IMPACT - Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls
             
UKGPCS - UK Genetic Prostate Cancer Study
  

COPE - Diagnostic and therapeutic insights into breast cancer from morphological and molecular profiling of breast tumours in patients with germline p53 mutations (Li Fraumeni Syndrome)