Section of Genetics - Genetic Cancer Susceptibility Group
Genetic susceptibility plays a role in many types of cancer. Identifying the genes involved in susceptibility to cancer may have potential utility in risk management, lead to greater understanding of the biological pathways involved in cancer development, and elucidate how environmental factors exert their effects in combination with genetic variants.
The Genetic Cancer Susceptibility Group (GCS) aims to evaluate the inherited genetic factors involved in susceptibility to human cancers. A proportion of the familial cancer susceptibility can be explained by rare mutations in high-penetrance genes, exemplified by mutations in BRCA1 and BRCA2 genes implicated in breast cancer susceptibility. Some of the familial risk can also be explained by genetic variants that are common in the general population but individually confer modest to small risk. The genome-wide association study (GWAS) approach has been successful in identifying this latter type of genetic variants. Nevertheless, the genetic risk explained by the variants identified so far accounts for only a minor proportion of familial clustering, implying that much of the genetic risk remains to be discovered. Within its research goals, GCS aims to use genomic sequencing techniques to further describe genetic susceptibility to cancer and explore how the genetic susceptibility might be mediated, particularly how the germline events may relate to the somatic events. Although GCS does work on common cancers, such as lung cancer, the Group′s research tends to focus on rare cancers such as those of the head and neck (including nasopharynx) and kidney.
GCS is responsible for an important proportion of the Agency′s capacity in genomics. GCS aims to adapt genomic techniques to suit IARC′s particular needs and mission, and support genomics-related activities across the Agency through the Genetic Services Platform (GSP). In addition to its work on genetic susceptibility, GCS is exploring the potential for genomic techniques to be used as measures of circulating genomic biomarkers, such as circulating tumour DNA, and testing their utility as mechanisms of minimally invasive early detection and surveillance of cancer.