ViP: Variants in Practice

The ViP study is part of the wide-spread global research effort focused on identifying genetic changes other than BRCA1/2 that might contribute to the increased cancer risk in families. One of the first major projects for the study has been an investigation into the role that common genetic variations (of the type we all have) play in inherited breast and ovarian cancer risk. This work builds on the findings from very large international studies that have identified minor variations in our genetic makeup, each of which has a very small influence on a person’s cancer risk. When the combined effect of all of these common variants are added together the effect can end up being quite significant and, for some women, this has a big influence on their lifetime chance of developing breast cancer.  This work has led to the study, VIP Psychosocial: Psychosocial Aspects of Genomic Testing for Breast Cancer Risk, a study designed to investigate the experience of ViP study participants invited to receive their personal common genetic variant result (also known as polygenic risk score). 

The second major project of the study aims to identify new rare high and moderate risk gene changes associated with an increased risk of breast and ovarian cancer and to assess changes that have been reported in other research studies but are not yet well understood. This is currently a major focus of the study and additional funding has been secured that will allow us to continue our investigation into breast cancer predisposition genes but also to really ramp up investigations into ovarian cancer predisposition genes, a much needed area of research.

Funding

  • National Health & Medical Research Council
  • Victorian Comprehensive Cancer Centre

Contact details

Ms Simone McInerny

Email: [email protected]

Simone McInerny
Simone McInerny

Publications & presentations

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 Dec 10;30(35):4330-6.

Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators, Mitchell G, James PA, Scott RJ, Campbell IG. Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. Breast Cancer Res. 2015 Aug 19;17:111.