Aims & objectives

By conducting next generation sequencing of the whole genome of young colon cancer patients and both parents, we aim to identify new mutations arising in affected patients and recessive genetic traits where one rare allele is inherited from each unaffected parent.

Aim

By conducting next generation sequencing of the whole genome of young colon cancer patients and both parents, we aim to identify new mutations arising in affected patients and recessive genetic traits where one rare allele is inherited from each unaffected parent. The effects of such inherited mutations will be studied on archival tumour samples

Identification of these genes will lead to direct patient benefit and be clinically beneficially to other family members.

Objective

To identify new mutations arising in young colon cancer patients aged 40 years or younger at time of diagnosis along with historical incident cases who may be much older but still have both parents alive. 

To identify novel genetic traits responsible for colorectal cancer.

Outcome Measures

Primary outcome: To identify novel recessive mutations and new dominant mutations in young affected individuals who have developed colorectal cancer and to elucidate the complex inherited component of colorectal cancer risk.

Secondary outcomes: To ensure optimal risk category is assigned to patients with such novel mutations and to ensure surveillance for metachronous cancers and instigate cascade genetic screening for relatives and surveillance for other high risk subjects