Clinical and Molecular Investigations of Familial Breast-Ovarian Cancer

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Breast and ovarian cancer can occur together in some families. Faults in two genes, BRCA1 and BRCA2, are known to increase the risks of breast and ovarian cancer resulting in families with both cancers (known as breast-ovarian cancer families). Individuals from families with BRCA1 or BRCA2 faults can undergo gene testing to see if they are at-risk of cancer. Individuals without the fault are reassured and those with the fault can have surveillance and/or preventative surgery to reduce their risk of cancer. However, the majority of breast-ovarian cancer families are not due to faults in BRCA1 or BRCA2 and there is currently little information available on how to best manage them. We have recruited 705 families with breast-ovarian cancer and I shall increase this to 1300 families. I shall investigate the contribution of BRCA1 and BRCA2 faults to these families and will look to see if newer breast cancer susceptibility genes, ATM, CHEK2, BRIP1 and PALB2 have a role in familial breast-ovarian cancer. By analysing the patterns of cancer clustering and gene faults in the families we will be able to clarify the cancer risks to unaffected relatives in breast-ovarian cancer families, which will allow us to better manage them in clinic.