Familial cancer research at Peter Mac combines clinical and laboratory-based research to:
- identify new hereditary cancer predisposition genes
- improve the identification of people with hereditary cancer syndromes
- develop new strategies for cancer risk management and personalising cancer treatments.
Familial cancer researchers also investigate the wider psychosocial impact of these syndromes on the well-being of individuals and their families through the work of the Psychosocial Cancer Genetics Research Group.
The Familial Cancer Research Centre is leading on a number of research projects that include:
- Investigating the role that common genetic variations (of the type we all have) play in inherited breast and ovarian cancer risk.
- Building a partnership between Australian Familial Cancer Centres (FCCs) to transform their clinical practice into a research resource
- Studying prostate cancer screening in men with inherited BRCA and mismatch repair (MMR) gene mutations
Research focus
Our research focus includes:
- Identifying people with hereditary cancer syndromes and stratifying their individual cancer risk.
- Developing, implementing and validating new strategies of cancer risk assessment and management, including genetic counselling models and preventative medicines.
- Identifying and validating new cancer risk predisposition genes through laboratory research.
Research programs
Research projects
Active
- CASCADE-PIPS: Why patients consent to a rapid autopsy program at the end of life?
- Evaluation of Telephone Genetic Counselling to Facilitate BRCA1/2 Testing
- IMPACT Psychosocial: Experiences of Lynch Syndrome carriers' receiving prostate cancer risk information
- IMPACT: Targeted prostate cancer screening
- INSPIRE: Telephone genetic counselling model facilitating decision-making about clinically significant research results
- PRiMo Trial
- Support model for young women who are BRCA1/2 carriers
- VIP PSYCHOSOCIAL STUDIES
- ViP: Variants in Practice
- Young People with Li-Fraumeni Syndrome: are their psychosocial needs being met?
Recruiting
Ongoing
Contact
Publications, presentations and other
Forrest LE, Young MA. Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors. J Clin Oncol. 2016 Mar 20;34(9):898-901. Epub 2016 Jan 19.
James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer. 2015 Jun;14(2):287-95.
White V, Young MA, Farrelly A, Meiser B, Williamson E, Jefford M, Ieropoli S, Duffy J, Winship I. (2014) Randomized controlled trial of a telephone-based peer support program for female carriers of a BRCA1 or BRCA2 mutation: impact on psychological distress. Journal of Clinical Oncology. 32(36): 4073 – 4080.
James PA, Mitchell G, Bogwitz M, Lindeman GJ. The Angelina Jolie effect. Med J Aust. 2013 Nov 18;199(10):646.
Young MA, Herlihy A, Mitchell G, Thomas DM, Ballinger M, Tucker K, Lewis CR, Neuhaus S, Halliday J (2013) The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research. Clinical Sarcoma Research. 3(1):11.
Sawyer S, Mitchell G, McKinley J, Chenevix-Trench G, Beesley J, Chen XQ, Bowtell D, Trainer AH, Harris M, Lindeman GJ, James PA. A Role for Common Genomic Variants in the Assessment of Familial Breast Cancer. J Clin Oncol 2012, 30:4330-4336
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
Mitchell G, Ballinger ML, Wong S, Hewitt C, James PA, Young M-A, Cipponi A, Pang T, Goode GL, Dobrovic A, Thomas DM. High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. PLoS One. 2013, 8(7):e69026.
Barnes D, Barrowdale D, Beesley J, Chen X, kConFab Investigators, Australian Ovarian Cancer Study Group, James PA, Hopper J, Goldgar D, Chenevix-Trench G, Antoniou AC, and Mitchell G. Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer. Br J Cancer. 2013 108(12):2610-22
Young M-A, Herlihy A, Mitchell G, Thomas DM, Ballinger M, Tucker K, Lewis CR, Neuhaus S, Halliday J. The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research. Clin Sarcoma Res. 2013 Jul 30;3(1):11.
Crook A, Plunkett L, Forrest LE, Hallowell N, Wake S, Alsop K, Gleeson M, Bowtell D, Mitchell G; The Australian Ovarian Cancer Study Group, Young MA. Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS). Eur J Hum Genet. 2014 May 14.
Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gómez-García EB; ENIGMA Clinical Working Group, BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol. 2015. 26 (10): 2057-65
Domchek S, Aghajanian C, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer SM, Rosengarten HA, Loman N, Robertson J; Mann H, Kaufman B. Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. Gynecol Oncol 2016 Feb;140(2):199-203
Kaufman B, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer S, Hubert A, Rosengarten O, Steiner M, Loman N, Bowen K, Fielding A and Domchek SM. Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol. 2015 Jan 20;33(3):244-50.
Further info:
The Familial Cancer Research Centre collaborates with and contributes to a number of large collaborative studies including:
- The Australian Ovarian Cancer Study (AOCS): Defining the hereditary contribution to ovarian cancer: The role of mismatch repair genes.
- Mammographic Screening: Improving population based mammographic screening
- Ovarian Cancer Program: Improving outcomes for women with Ovarian Cancer (Cancer Genomics Program)
- LIFEPOOL - The NBCF BreastScreen Cohort Demonstration Project: Integration of Breastscreen with an epidemiological, molecular and translational research program
- BRCAX – WES: Identification of novel breast and ovarian cancer susceptibility genes (Cancer Genomics Program)
- kConFab: The Kathleen Cuningham foundation consortium for research into familial breast cancer
