Constitutional Genomic Variation in Disease Prediction and Prevention Breast Cancer

Constitutional Genomic Variation in Disease Prediction and Prevention: Breast Cancer explores the molecular basis and impact of a genomic-based personalized approach to breast cancer risk assessment and management in clinical and public healthcare settings. This detailed approach provides a framework for implementing similar clinical assessment and risk-stratified screening programs in different environments. Sections cover Genomic variation and breast cancer risk, Clinical implementation of genome-based breast cancer risk assessments, and Challenges to providing personalized breast cancer risk assessment and management at a population level.

The content assumes no prior knowledge of genomic medicine and provides an educational and practical framework for integrating genomic variant analysis into clinical care in other disease contexts. The book is a valuable resource for cancer researchers, oncologists, clinicians in breast cancer-related specialties, clinical geneticists and several members of biomedical field who are interested in learning about a more personalized approach to treat breast cancer.

• Encompasses a comprehensive approach from genomic variation and clinical breast cancer risk assessments to policy and social implementation, including ethical and legal implications
• Presents clinical and policy chapters written by researchers from diverse countries, combining data and experience from multiple healthcare systems, including UK/Europe, USA, and Australia to ensure multiple points of view and reproducibility in different environments
• Provides a structured framework for implementing genome-based risk and treatment assessments in emerging areas of cancer

Part 1: Genomic variation and breast cancer risk
1. Breast Cancer Epidemiology
2. Genetics, Genomics and Genetic Pathology
3. Mendelian Breast cancer Risk
4. Breast Cancer Genome Wide Association Studies
5. Functional Significance Of Intragenic Single Nucleotide Polymorphic Variations
6. Comprehensive Genomic Breast cancer Risk Assessments
7. Summary of current understanding of genomic of architecture and future directions: machine learning

Part 2: Clinical Implementation
8. Current Genetic testing in clinical practice: assessment of mutation probability, genetic counselling
9. Variant curation, testing platforms (single gene versus panels vs exome, diagnostic versus clinical
10. Breast Imaging, MMG Density
11. BRCA1 and BRCA2 and PRS- clinical summary, including treatment implications
12. Moderate risk genes and candidate breast cancer genes and PRS
13. PRS in clinical practice
14. Risk management: Management of high/moderate -risk mutation, expected risk management
15. Current challenges in population screening and stratified screening (UK)
16. Challenges of ethnicity at variant/ and physiological
17. Genetic Counselling - implications for future practice

Part 3: Implementation challenges: social, legal and ethical
18. Population engagement, timing, counselling
19. Health economics: Challenges of Economic modelling
20. Social issues, Challenges in genetic determinism
21. Legal and ethical issue, PGD, prenatal, insurance
22. Relevance to other cancers / common disorders

Alison Trainer, BSc, MD, FRACP, PhD, is a clinical geneticist with a special interest in familial cancer. She is Associate Professor at the Familial Cancer Centre, Peter MacCallum and Royal Melbourne Hospitals. Her research focuses are oncological genetics and genomic medicine. Dr. Trainer has a particular interest in how clinical services are offered to ensure that all women have access to the benefit of genetic testing.
Paul James, MD FRACP, PhD, is a consultant clinical geneticist. He is the director of the Parkville Familial Cancer Centre at the Peter MacCallum Cancer Centre and Royal Melbourne Hospital, and a Clinical Associate Professor in the Department of Medicine, Monash University and the Sir Peter MacCallum Department of Oncology, Melbourne University. He is the group leader for Familial Cancer Research at the Peter MacCallum.