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 implicationsPresents 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 environmentsProvides a structured framework for implementing genome-based risk and treatment assessments in emerging areas of cancer INDICE: Part 1: Genomic variation and breast cancer risk1. Breast Cancer Epidemiology2. Genetics, Genomics and Genetic Pathology3. Mendelian Breast cancer Risk4. Breast Cancer Genome Wide Association Studies5. Functional Significance Of Intragenic Single Nucleotide Polymorphic Variations6. Comprehensive Genomic Breast cancer Risk Assessments7. Summary of current understanding of genomic of architecture and future directions: machine learningPart 2: Clinical Implementation8. Current Genetic testing in clinical practice: assessment of mutation probability, genetic counselling9. Variant curation, testing platforms (single gene versus panels vs exome, diagnostic versus clinical10. Breast Imaging, MMG Density11. BRCA1 and BRCA2 and PRS- clinical summary, including treatment implications12. Moderate risk genes and candidate breast cancer genes and PRS13. PRS in clinical practice14. Risk management: Management of high/moderate -risk mutation, expected risk management15. Current challenges in population screening and stratified screening (UK)16. Challenges of ethnicity at variant/ and physiological17. Genetic Counselling - implications for future practicePart 3: Implementation challenges: social, legal and ethical18. Population engagement, timing, counselling19. Health economics: Challenges of Economic modelling20. Social issues, Challenges in genetic determinism21. Legal and ethical issue, PGD, prenatal, insurance22. Relevance to other cancers / common disorders

• ISBN: 978-0-323-89828-7
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 300
• Fecha Publicación: 01/03/2022
• Nº Volúmenes: 1
• Idioma: Inglés