A Population Based Study of Genetic Predisposition and Gene-Environment Interactions in Endometrial Cancer in East Anglia, Oxford Trent and West Midlands

OBJECTIVES:

• To obtain epidemiological information and biological material on a population-based series of endometrial cancer cases.
• To define the proportion of endometrial cancer incidence attributable to mutations in known predisposing genes such as MSH2 and MLH1.
• To determine the risk associated with these predisposing mutations by examining the cancer risk in relatives of patients who are shown to be carriers.
• To examine the effect of nongenetic risk factors in mutation carriers.
• To determine the pathological and clinical characteristics of endometrial cancers occurring in mutation carriers as compared with that in noncarriers.
• To establish whether mutations at other loci may predispose to endometrial cancer by comparing the frequency of alterations in endometrial cancer patients with the corresponding frequency in cancer-free controls identified through the European Prospective Investigation of Cancer (EPIC) study.

OUTLINE: This is a multicenter study.

Patients complete an epidemiological questionnaire. The questionnaire will request identifying information about the patient's first-degree relatives.

Blood samples are collected from patients. DNA is extracted from these blood samples and from samples collected from cancer-free control participants in MREC-SEARCH-CONTROL as well as from additional controls through the European Prospective Investigation of Cancer (EPIC) study (a population based study of diet and health based in Norfolk, East Anglia). DNA samples are analyzed for polymorphisms of low penetrance cancer susceptibility genes.