Inherited Cancer risk research and trials
I am interested in research and trials
Research Projects
Researchers in Australia and internationally are working to improve the understanding, diagnosis, and long-term care of people and families inherited cancer risk. Some studies actively invite people to take part, while others may influence care over time without requiring direct participation.
The following projects are currently recruiting for participants:
Inherited MLH1 methylation (a rare form of Lynch syndrome)
Most people with Lynch syndrome have a genetic change in a DNA repair gene. In rare cases, Lynch syndrome can occur when the MLH1 gene is switched off by a process called methylation, rather than a change in the DNA sequence itself. This type can be missed by standard genetic testing.
Why this study matters
Identifying this condition can change cancer screening and management for individuals and their families.
This study may be relevant if you:
- Have been diagnosed with constitutional (inherited) MLH1 methylation, or
- Had a bowel cancer that showed MLH1 methylation and:
- The cancer occurred before age 50, or
- You have had more than one MLH1-methylated cancer
If this sounds relevant, discuss it with your familial cancer clinic.
About the study
This international project is bringing together worldwide experience to better understand this rare condition and improve clinical care.
Contact
Royal Melbourne Hospital Familial Cancer Clinic
finlay.macrae@mh.org.au
NTHL1-associated adenomatous polyposis
Some people develop many bowel polyps (adenomas), suggesting an inherited condition, but genetic testing does not always find a cause. A very rare inherited condition involving the NTHL1 gene can explain this in some families.
Why this study matters
A diagnosis can guide cancer screening and help family members understand their own risks.
This study may be relevant if you:
- Have been diagnosed with NTHL1-associated polyposis or tumour syndrome, or
- Have had many adenomatous polyps but previous genetic testing did not find an explanation (especially if testing was done before 2022)
About the study
This is an international collaboration working to improve diagnosis and care for people with this rare condition.
Contact
Royal Melbourne Hospital Familial Cancer Clinic
finlay.macrae@mh.org.au
APRISE (Australian Pancreatic high-RIsk ScrEening Program)
The Australian Pancreatic high-Risk ScrEening (APRISE) Program is a national research study led by the Jreissati Pancreatic Centre at Epworth in partnership with Pankind: Pancreatic Cancer Australia. The study is assessing whether regular screening can help detect pancreatic cancer earlier in people with a higher-than-average risk.
Screening in this study includes:
- A yearly MRI (magnetic resonance imaging) or EUS (endoscopic ultrasound) scan
- A brief yearly questionnaire about your health and medical history
Eligibility criteria
You may be eligible if you:
- Are aged 18 to 90 and have not had pancreatic cancer
- Have a strong family history, such as two or more close relatives with pancreatic cancer on the same side of the family
- Or have a pathogenic variant in one of the following genes:
BRCA1, BRCA2, PALB2, ATM, MLH1, MSH2, MSH6, PMS2, EPCAM, CDKN2A, STK11 or PRSS1. Some criteria require a family history of pancreatic cancer or history of pancreatitis.
Location
The study is running at multiple hospitals across Australia. A full list of sites is available on the APRISE website. Contact the APRISE study team below for more information.
Website
www.pancreaticcentre.org.au/APRISE
Contact
- Email: ec-APRISE@epworth.org.au
- Phone: 0418 370 684
You can find out more information through the below video. Our programs manager, Robyn interviews Professor Andrew Metz, Director of the Jreissati Pancreatic Centre and Principal Investigator of the APRISE Study.
EmCOG Study
This study is investigating whether the removal of ovaries before natural menopause is associated with changes to concentration and memory.
Eligibility criteria
This study is for women in Australia who are under 45 years old and are at high risk for ovarian cancer. You might be eligible if you are planning to have a bilateral salpingo-oophorectomy (BSO) within the next 12 months, or if you have already had a BSO in the past 12 months.
Location
This study is conducted online via videoconferencing.
Contact
tumaprc-earlymenopauseandcognition@manas.edu
(03) 9076 5034
Elevated Risk of Ovarian Cancer (EROC) Biobank Project
This study (for Sydney based participants only) is developing a blood and clinical database from people with increased risk of developing ovarian cancer. People who are considering removing their ovaries because they have a gene mutation associated with breast or ovarian cancer or they have a family history of breast or ovarian cancer, can participate. Participants will be provided with detailed information and if consent is given, the clinical team will organise a time to collect a 45mL blood sample. This blood can be used by researchers to search for new biomarkers that might be useful for improving diagnostics (eg to support development of an early detection test for ovarian cancer). The blood and data will be used for future research.
Eligibility criteria
Participants must meet the follow criteria to participate:
- Considering risk-reducing gynaecological surgery; and have
- Family history of hereditary breast or ovarian cancer; or
- Germline mutations in genes associated with breast or ovarian cancer
Location
You can only participate in this research if your surgery is taking place in Sydney.
Website
https://www.gyncancerresearch.org/the-eroc-biobank
Contact
earlydetection@unsw.edu.au
Primo Trials
The BRCA-P study will explore whether the drug Denosumab is a safe and effective method for preventing breast cancer in women with a BRCA1 mutation.
Eligibility criteria
If you are a woman aged 25 to 55 with a confirmed BRCA1 mutation, no current or past breast cancer diagnosis, and you are not planning to have or have not yet undergone surgery to remove both breasts, you may be eligible for this trial.
Location
The trial is open at 15 hospitals around Australia. Please see below website to find out exact locations and more information.
Website
https://www.breastcancertrials.org.au/trials/brca-p/
Contact
Phone: 1800 777 253
You can find out more information through the below video. Our programs manager, Robyn is joined by Prof Geoffrey Lindeman and Elle for an instagram live to discuss invaluable insights about the BRCA-P Clinical Trial and what it means for BRCA1 gene mutation carriers.
Tuba WISP Trials
The TUBA-WISP II study is investigating if having a salpingectomy (removal of the fallopian tubes) followed by a delayed oophorectomy (removal of the ovaries) is a safe alternative to the standard risk-reducing surgery (both salpingectomy and oophorectomy) for women with a high inherited risk of ovarian cancer.
Eligibility criteria
To participate in this study, you need to meet the following criteria:
- Be a woman with a genetic mutation in one of these genes: BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, or PALB2.
- Be within the specific age ranges: 24-40 for BRCA1, 25-45 for BRCA2, and 25-50 for BRIP1, RAD51C, or PALB2.
- Have completed childbearing.
- Be premenopausal and have at least one fallopian tube.
- You may have had non-ovarian cancer before, but you should not have it currently and must have completed any treatment.
- Be willing to sign an informed consent form.
- If you have had a salpingectomy, you should plan to wait at least two years before having an oophorectomy.
Location
This is a worldwide trial, please see below website for more information on this and the locations participating.
Website
https://www.tuba-wisp.org/
Contact
tuba-wisp@radboudumc.nl
Closed Clinical Trials
Although the below trials are now closed, the knowledge gained from these studies continues to shape care for people and families with inherited cancer risk. Findings from these trials inform current clinical guidelines, improve risk-reduction options, and help clinicians better support informed decision-making.
The BRCA-P Clinical Trials
(CLOSED FOR RECRUITMENT)
PRiMo is a trial focused on using polygenic risk scores in clinical practice to determine the best way to identify high-risk women and personalise breast cancer risk management. A polygenic risk score represents the total number of genetic variants an individual has, which helps to assess their risk of developing a particular disease. This trial includes national recruitment through the network of Australian Familial Cancer Centres.
Eligibility criteria
The trial will be available to women who, having been referred to a participating Familial Cancer Clinic in Australia, are seeking predictive testing for a pathogenic variant in a high or moderate risk breast (and/or ovarian) cancer-associated gene (such as BRCA1, BRCA2, PALB2, CHEK2, ATM, RAD51C, RAD51D) that was previously identified in a genetic relative.
Location
The trial is located nationwide. Please see below website for exact locations that are included.
Contact
primo@petermac.org
(03) 8559 6190
Other Related Research - not currently recruiting
Additional projects are underway to:
- Improve computer-based tools used to interpret genetic variants
- Strengthen long-term follow-up and coordination of care for people with inherited cancer risk
- Better understand the causes of bowel cancer diagnosed at younger ages
Together, this research helps drive better outcomes for current and future generations affected by hereditary cancer.
Other ways of finding clinical trials:
- Your hospital or Medical Team – Your medical oncologist will know about any relevant studies that might suit you and your type of cancer. If you want to find or participate in a clinical trial, this can be the best place to start.
- Australian New Zealand Clinical Trials Registry (ANZCTR) – A national database of clinical trials maintained by the Government. You can search for cancer-related trials on their website
- Cancer Council Australia – A leading cancer research organisation that often has information about clinical trials on its website.
- Australian Rare Cancer Portal – An online portal aimed at healthcare providers to improve outcomes for those with rare cancers.
- Australian Cancer Trials – Government database of the latest clinical trials in cancer care.
- Breast Cancer Trials – Clinical trial research focused on finding better treatments for people affected by breast cancer.
- Australia and New Zealand Urogenital and Prostate Cancer Trials Group – Clinical Trial research focused on finding better treatments for people affected by urogenital and prostate cancer.
- Australia New Zealand Gynaecological Oncology Group (ANZGOG) – National gynaecological cancer clinical trials organisation for Australia and New Zealand.
- ClinTrial Refer – Platform and app that allows you to search for clinical trials that are actively recruiting patients.