Approved research

Study of germline mutations in cancer predisposing genes

Lay summary

Certain families experience cancer at higher rates than the general population, suggesting a potential genetic basis for this recurrence. When individuals with cancer diagnosis are born with a genetic alteration in specific parts of DNA, called cancer predisposing genes, they are classified as having hereditary cancer. Common characteristics in hereditary cancer cases include early onset of cancer, a pattern of cancer affecting multiple generations in a family, the occurrence of cancer in both sides of paired organs (e.g., both breasts), and associations between different types of genetically related cancers (e.g., breast and ovarian cancer). However, genetic tests can only identify the causal alteration in about 30% of hereditary cancer cases, leaving the genetic basis of the remaining cases unexplained. To contribute to this field, the project will explore and assess novel genetic variants and genes that might be responsible for hereditary cancer.

The project was designed to be developed in 3 years and involves a series of research steps, including the validation of candidate genes by applying a gene-based association analysis using the UK Biobank's genomic data.

The project has significant implications for public health. By identifying novel cancer-predisposing genes, we aim to enhance our ability to predict cancer risk in high-risk individuals and their close relatives. The project ultimately aims to expand the repertoire of genetic tests available for individuals at high risk of hereditary cancer, which can lead to early detection and more effective prevention and treatment measures.