Hereditary contribution to ovarian cancer

The hereditary basis of ovarian cancer is becoming more defined with up to 20% all invasive ovarian cancer cases now estimated to result from a mutated cancer predisposition gene. We have shown that at least 14% of all invasive ovarian cancer cases are due to germline BRCA1 and BRCA2 gene mutations (Alsop et. al, 2012). The majority of the remaining cases are likely due to germline mutations in other genes, with the mismatch repair (MMR) genes associated with Lynch syndrome (hereditary non-polyposis colorectal cancer syndrome, HNPCC) likely to be predominant.

This project aims to define the contribution of hereditary genes to non-serous ovarian cancer. It is collaboration with the Australian Ovarian Cancer Study, the Peter MacCallum Cancer Centre Pathology Department and the Familial Cancer Centre, as well other international ovarian cancer research cohorts.


Cancer Australia

Principal Investigator/s

Associate Professor Paul James

Contact details

Ms Kathryn Alsop

Email: [email protected]

Publications & presentations

Alsop KA, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, The Australian Ovarian Cancer Study Group, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G. BRCA mutation frequency and patterns of treatment response in BRCA mutation positive women with ovarian cancer. Journal of Clinical Oncology. 2012 30(21):2654-63