Cancer genomics

PALB2Our pathologists and scientists are helping determine the inherited cancer risk for breast, ovarian, bowel and other cancer syndromes. Here is a snapshot of just some of our achievements in this area:

  • Our Newcastle laboratory was the first in Australia to receive NATA accreditation for the use of next generation sequencing technology in routine diagnostic testing for mutations in the BRCA1 and BRCA2 genes that are associated with breast and ovarian cancer. In 2015 it added a third gene, PALB2, to this screening and is developing multiple gene panels for colorectal cancer syndromes and other rare inherited cancer syndromes.
  • Our Newcastle laboratory is also the statewide referral centre for inherited bowel cancer genetic screening.
  • Experts at our Royal Prince Alfred Hospital, Newcastle and other labs are creating validated genomic tests to enable customised treatment based on mutations identified within individual tumours. This rapidly developing field will match patients to treatments that are more likely to be effective for them and cause fewer side effects. Studying a patient’s tumour can in many cases predict the risk of recurrence and provide information about appropriate treatment strategies.
  • A state wide massively parallel sequencing of 30 key genes is now available for patients with myeloid malignancies/ leukemia. This has been developed by Dr Anoop Enjeti  and Dr Wiiliam Stevenson and is available at the JHH site. Click here for additional information (DOCX 42.9KB).