UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Genetic epidemiology of colorectal, breast and ovarian cancer: Use in clinical practice

Houlston, Richard Somerset; (1993) Genetic epidemiology of colorectal, breast and ovarian cancer: Use in clinical practice. Doctoral thesis (Ph.D), UCL (University College London). Green open access

[img] Text
Genetic_epidemiology_of_colore (1).pdf

Download (3MB)

Abstract

The genetic epidemiology of colorectal, breast and ovarian cancer was investigated and used to provide risk estimates for use in clinical practice. The risk of colorectal, breast and ovarian cancer in first degree relatives of patients with these cancers was determined empirically from extensive sets of pedigrees taken from patients with these cancers or from consultands. For each of these cancers, risks were highest for those relatives of patients diagnosed at a young age. Complex segregation analysis showed that the familial aggregation of colorectal, breast and ovarian cancer is most compatible with the inheritance of dominant genes. The frequencies of these deleterious genes account for a significant proportion of colorectal, breast and ovarian cancer in young individuals, however, in older age groups the majority of those affected are phenocopies. Using estimates of the probability of inheriting the deleterious gene and the age specific penetrance enables the genetic component of risk at different ages for relatives to be calculated. With an early age of diagnosis the genetic risk to offspring is high, but with increasing age at diagnosis this diminishes. This information can be used to identify more precisely those family members at high risk of colorectal, breast or ovarian cancer and estimate the chance that a dominant gene is responsible for any family aggregation. The estimates of risk, gene frequency and penetrance were used in two family cancer clinics to determine the screening requirements of relatives of patients with colorectal and breast cancer. Screening was targeted to the relatives at a high risk of cancer. Detection rates for adenomas of the colon and colorectal cancer using colonoscopy, and breast cancers using mammography and ultrasound were high. In conclusion, family history can be used to identify individuals at a high risk of colorectal and breast cancer who may benefit from screening at an earlier age than members of the general population.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Genetic epidemiology of colorectal, breast and ovarian cancer: Use in clinical practice
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: Health and environmental sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10100371
Downloads since deposit
13Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item