Integrative approaches to identifying new causes of familial breast cancer

Published Alicia Mew on

VCCC Alliance Breast Cancer Grand Round with Prof Ian Campbell

Integrative approaches to identifying new causes of familial breast cancer

12 June 2024

Since the discovery of BRCA1 and BRCA2, no equivalent high penetrance predisposition genes have been found. Consequently, the genetic cause of the majority of hereditary breast cancer families remains unresolved.

Join Prof Ian Campbell to learn about a pioneering whole exome sequencing that revealed the remaining heritability must be due to numerous genes, utilising unique, large cohorts and clinical resources to integrate multiple types of data.

Breast cancer has a major heritable component, but since the discovery of BRCA1 and BRCA2, no equivalent high penetrance predisposition genes have been found. As a result, the genetic cause of the majority of hereditary breast cancer families remains unresolved. This represents a significant unmet clinical need since the absence of such information can jeopardise effective primary and secondary cancer prevention.

Prof Ian Campbell will share how whole exome sequencing has revealed that the remaining heritability must be due to numerous genes, each responsible for only a small proportion of families. Future studies needed to be highly powered to uncover such genes. Unique, large cohorts and clinical resources (Lifepool and Variants in Practice cohorts) are being used to integrate multiple types of data to discover new breast cancer predisposition genes.


The VCCC Alliance Breast Cancer Grand Round is targeted at a clinical audience and features open discussion about real cases and patients. While these cases are de-identified, the imagery, content and discussion can be graphic. It is not appropriate for consumer participants.

Chair

Associate Prof Kylie Gorringe 
Cohead, Tumour Evolution and Metastasis Program, Peter McCallum Cancer Centre 

Associate Professor Gorringe is a research scientist who studied in New Zealand before heading to the UK for PhD at Cambridge University. This was followed by postdoctoral positions at Peter MacCallum Cancer Centre, Melbourne and at James Cook University in Townsville (Queensland) before returning to Peter Mac. She has held NHMRC Career Development and Victoria Cancer Agency Mid-Career Fellowships. She became a Group Leader at Peter Mac in 2016 and Co-Heads the Tumour Evolution and Metastasis Program.

Speaker

Prof Ian Campbell
Head, Cancer Genetics Laboratory, Peter MacCallum Cancer Centre; Professor, the University of Melbourne; Principal Investigator, Lifepool

Prof Ian Campbell leads large-scale sequencing approaches for the discovery of new familial breast and ovarian cancer predisposition genes, as well as translational studies into mainstreaming germline and genetic sequencing for women newly diagnosed with breast cancer.

Resource details

brca
Course type
Webinars
Duration
60 mins
Price
$0.00
Curriculum Area
Treatment (incl. Supportive Care)
Prevention, screening and diagnostics
Speciality
Clinician
Early to mid career researcher
Breast
Genomics

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