HumGenDis – Molecular pathology of human genetic disease
- Multiple Primary Tumours
- Inherited Renal Cell Carcinoma
- Inherited Phaechomocytoma / Paraganglioma
EMBRACE – Epidemiological Study of Familial Breast Cancer
This study collects information about people who have inherited faulty cancer genes; currently interested in the following genes: BRCA1, BRCA2, PALB2, ATM, CHEK2, BRIP1, RAD51C, RAD51D, BARD1, PTEN, TP53 and CDH1.
GENPROS – Analysing outcomes after Prostate cancer diagnosis and treatment in carriers of rare germline mutation in cancer predisposition genes
Aiming to recruit individuals with a pathogenic variant in a gene thought to predispose to prostate cancer e.g. BRCA1, BRCA2, HOXB13, ATM, MSH6, MSH2, MLH1 and PMS2.
Colorectal Cancer Genetic Susceptibility Study 2 (COGS2)
The main goal of the COGS2 study it to enhance our understand of what makes cancer develop in some people with a predisposing gene change, but not in others. Researchers are studying why the effect of specific gene changes can vary, even within the same family.
The study recruit individuals who are known to have an inherited Lynch Syndrome (formerly known as HNPCC) gene change, which increases their chances of developing bowel cancer. Participants consent to providing a blood or a stored DNA sample and share some of their medical history with the researchers.
The study aims hopes to enhance our understanding of genetic risk, including:
- Why do some people with a gene change develop cancer, while others do not?
- How do other factors affect the way a predisposing gene works?
By answering these questions, the researchers hope to gain a better understanding of what an increased genetic risk truly means for individuals and their families.