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.
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.
Masami Arai Masami Arai, MD, graduated from the Department of Medicine at Kagoshima University in 1986. He specializes in clinical genetic medicine for hereditary cancers, such as HBOC, and has worked at the Cancer Institute Hospital (January 2000March 2018) and Juntendo University (April 2018present). From 2014 to 2016, he led the Health Labour Sciences Research Grant Research Group on HBOC. During this period, he published the Guidebook for Diagnosis and Treatment of HBOC 2017, which established Japans first clinical management guidelines for HBOC. At the same time, he contributed to the development of a nationwide registration system for BRCA1/2 mutation carriers. Currently, he serves as Professor in the Department of Clinical Genetics at Juntendo University and also oversees the institutions genetic counseling course.
Shinji Ohno Dr Ohno is the Chairman of Japanese Organization of Hereditary Breast and Ovarian Cancer (JOHBOC). After postgraduate training at Kyushu University since 1984, he spent three years as a research fellow in the Department of Surgery II at Kyushu University since 1986 and another two years in Internal Medicine at the University of Texas Medical School, U.S.A. since 1989. Then assumed a position as Assistant Professor of the Department of Surgery II at Kyushu University between 1993 and 2000. Was the Director of the Department of Breast Oncology at the National Kyushu Cancer Center from 2000 to 2015. Since then, he has been Center Chief of Breast Oncology, and Deputy director of Cancer Institute Hospital in Tokyo. Since 1st September 2023, he has been the director of Sagara Hospital. Internationally, is a faculty of Advanced Breast Cancer International Consensus Conference, a member of the Guideline Committee of European Society for Medical Oncology, and an International Advisory Member of The Breast, and a Faculty of American College of Surgeon.
Masayuki Sekine Department of Obstetrics and Gynecology Graduate School of Medical Science, University of the Ryukyu Education: 2002; Ph.D. Niigata University Graduate School of Medical and Dental Sciences 1994; Graduated, Faculty of Medicine, Niigata University Professional Experience: 2023 Present; Professor and Chairman, Department of Obstetrics and Gynecology, Graduate School of Medical Science, University of the Ryukyus 2015 2023; Associate Professor, Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences 2013 2015; Assistant Professor, Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences 2010 2013; Chief Gynecologist, Nagaoka Red Cross Hospital 2006 2010; Assistant Professor, Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences 2005 2006; Visiting Fellow, Harvard Institute of Medicine 2002 2005; Assistant Professor, Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences 1998 2002; Graduate Student, Niigata University Graduate School of Medical and Dental Sciences 1997 1998; Resident, Niigata City General Hospital 1996 1997; Resident, Akita Red Cross Hospital 1995 1996; Resident, Saiseikai Kawaguchi General Hospital 1994 1995; Resident, Department of Obstetrics and Gynecology, Niigata University Medical and Dental Hospital.
