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Identifying Genetic Markers of Susceptibility to African Oesophageal Cancer

Prof Christopher Mathew

Prof Christopher Mathew

Project ended 30 September 2019

Prof Christopher Mathew

Title of the project

Identifying genetic markers of susceptibility to African Oesophageal Cancer.

Project Description

Oesophageal squamous cell carcinoma (OSCC) is common in Black populations of sub-Saharan Africa, with high incidence regions in East and South Africa. Clinical presentation in Africa is late, and treatment is mainly palliative with a very poor prognosis. Various environmental risk factors have been identified, but the possible contribution of genetics to disease risk is an important question which is unresolved. The main purpose of this project is to rest the hypothesis that genetic variation in the South African Black population contributes significantly to the risk of this type of cancer. This will be done by testing genetic risk factors for OSCC which have been identified in other populations for association with OSCC in the South African Black population, and by carrying out fine-scale genetic mapping in positive regions of the genome to identify causal genes and variants. Recently we have also embarked on what is known as a genome-wide scan for genetic factors involved in OSCC. This involves testing more than two million genetic markers for association with OSCC to see whether we can identify novel genetic risk factors for this cancer in the Black South African population.

How the project was of value in the struggle against cancer

A key finding from our study of millions of genetic variants in OSCC cases is that genetics makes an important contribution to the risk of this cancer in African populations. This funding validates the effort and expense of the search for genetic clues to the risk of oesophageal cancer. Also, our preliminary analysis of the genome-wide data in a large number of cases and controls indicates that some of the risk loci we are detecting are specific to African populations. We are hopeful that as we expand the sample sizes in our study we will be able to identify useful genetic markers which predict the risk of OSCC in African populations.


  1. The Relationship Between Environmental Exposure and Genetic Architecture of the 2q33 Locus With Esophageal Cancer in South Africa
  2. Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population
  3. The Integrity and Yield of Genomic DNA Isolated from Whole Blood Following Long-Term Storage at -30°C
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