TY - JOUR
AU - Macdonald, Fiona
AB - Review Med Principles Pract 2000;9:221–248 The Impact of Presymptomatic Molecular Testing in Hereditary Cancers Fiona Macdonald DNA Laboratory, Regional Genetics Laboratory, Birmingham Women’s Hospital, Birmingham, UK Key Words Molecular Changes Associated with Hereditary cancer W Presymptomatic the Development of Cancers mutation The development of any tumour is a mul- tistage process involving mutations in a num- ber of genes. Some mutations are found in Introduction genes which promote cell proliferation, in- creasing the target cell population and thus Genetic factors are likely to be the primary making it more likely that subsequent changes determinants in around 5–10% of cancer pa- will occur. Other mutations affect the stability tients. Over the last decade the identification of the genome e.g. by affecting genes associat- of some of these cancer susceptibility genes ed with DNA repair processes and thereby has revolutionised our understanding of can- increase the overall mutation rates. In the cer in general. In addition, it has allowed us to 1950s it was estimated that 6–7 successive improve our management of patients in those changes would be required to convert a nor- families with a genetic predisposition by of- mal cell into a malignant one. This explained fering presymptomatic testing 
TI - The Impact of Presymptomatic Molecular Testing in Hereditary Cancers
JO - Medical Principles and Practice
DO - 10.1159/000054250
DA - 2001-01-01
UR - https://www.deepdyve.com/lp/karger/the-impact-of-presymptomatic-molecular-testing-in-hereditary-cancers-XrxGkgItmL
SP - 221
EP - 248
VL - 9
IS - 4
DP - DeepDyve
ER -