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This book provides updated findings and trends of hereditary breast and ovarian cancer (HBOC) research and clinical practice, offering a comprehensive overview of the latest advancement. It captures the dynamic changes in HBOC treatment, driven by innovations such as poly (ADP-ribose) polymerase inhibitors and BRCA1/2 genetic testing. Key concepts explored include the DNA damage response, precision cancer medicine, and the challenges of regional cooperation in clinical practice. The book also addresses critical issues like homologous recombination deficiency (HRD) testing and the ethical considerations of preimplantation genetic testing. Contributions from leading experts provide insights into the latest evidence and trends, making this book an essential resource for understanding the evolving landscape of HBOC management.
Practical Guide to Hereditary Breast and Ovarian Cancer IV - Annual Meeting of the JOHBOC
is written by the authors of the best-chosen works presented at the 4th Annual Meeting in 2024. Designed for breast surgeons, gynecologists, geneticists, and medical staff involved in HBOC practice, this book is also valuable for HBOC patients and their families. With its focus on the latest research and clinical applications, this volume is an indispensable guide for anyone seeking to stay informed about the current state and future directions of HBOC treatment in Japan and the world.
List of contents
Part I Advances in Basic Science
.- 1. DNA damage response and Immune checkpoint: Recent advances in basic science.- 2. Tissue-specific carcinogenesis induced by BRCA1 deficiency.-
Part II Advances in Genetics
.- 3. RCA1/2 pathogenic variant-based precision cancer medicine-Insights from C-CAT real world data.- 4. Translating moderate-risk gene data into clinical practice: Focus on CHEK2 germline pathogenic variants.- 5. Large scale functional analysis and evaluation of pathogenicity in BRCA2.- 6. Integrating BRCA1 and BRCA2 pathogenic variants with polygenic risk scores.-
Part III Advances in Breast Cancer
.- 7. Supporting strategies for HBOC unaffected carriers.- 8. Clinical Practice for Unaffected pathogenic variant carriers of BRCA1/2.- 9. Issue in unaffected carriers from the surveillance out-patients viewpoint.- 10. Present status of clinical practice for HBOC carriers without ovarian cancer.-
Part IV Equalization and regional cooperation of clinical practice for hereditary tumor
.- 11. Proliferation and regional cooperation in HBOC clinical practice.- 12. Regional cooperation and Equalization in Clinical Practice for hereditary tumor syndrome.- 13. Present status and issue of cooperation of HBOC Clinical Practice in Niigata Prefecture.- 14. Equalization and regional cooperation of clinical practice for hereditary tumor from public data.- 15. Expanding Opportunities and Evolving Challenges in the Genetic Diagnosis and Genetic Counseling of Hereditary Tumors in Japan.-
Part V Update on evaluation of homologous recombination deficiency (HRD)
.- 16. Current Status and Problems of HRD Testing in Ovarian Cancer Treatment.- 17. Timing and Cutoff Line of My Choice HRD Test.- 18. A review of pathological classification by artificial intelligence: a challenge to HRD diagnosis.-
Part VI Advances in Assisted Reproductive Technology and PGT-M
.- 19. Update on Reproductive Medicine for HBOC.- 20. Progress of Discussion on Indications for PGT in Japan.-
Part VII Excellent general presentation
.- 21. Knock-in rat model of the BRCA1 pathogenic variant L63X: its basic phenotypes and perspectives for use in cancer prevention research.- 22. BRCAness of brain lesions reflects a worse outcome for patients with metastatic breast cancer.- 23. BRCA2 c.7847C>T (p.Ser2616Phe): A Pathogenic Variant Specific to the Japanese Population.- 24. Prevalence and characteristics of pathogenic variants in BRCA1/2 genes in the Japanese population.-
Part VIII JOHBOC registration
.- 25. JOHBOC Registration, Registration data of JOHBOC 2023.
About the author
Masami Arai, Department of Clinical Genetics, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan.
Summary
This book provides updated findings and trends of hereditary breast and ovarian cancer (HBOC) research and clinical practice, offering a comprehensive overview of the latest advancement. It captures the dynamic changes in HBOC treatment, driven by innovations such as poly (ADP-ribose) polymerase inhibitors and BRCA1/2 genetic testing. Key concepts explored include the DNA damage response, precision cancer medicine, and the challenges of regional cooperation in clinical practice. The book also addresses critical issues like homologous recombination deficiency (HRD) testing and the ethical considerations of preimplantation genetic testing. Contributions from leading experts provide insights into the latest evidence and trends, making this book an essential resource for understanding the evolving landscape of HBOC management.
Practical Guide to Hereditary Breast and Ovarian Cancer IV - Annual Meeting of the JOHBOC
is written by the authors of the best-chosen works presented at the 4th Annual Meeting in 2024. Designed for breast surgeons, gynecologists, geneticists, and medical staff involved in HBOC practice, this book is also valuable for HBOC patients and their families. With its focus on the latest research and clinical applications, this volume is an indispensable guide for anyone seeking to stay informed about the current state and future directions of HBOC treatment in Japan and the world.
