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Table of Contents
Intro
Contents
Part I: Breast
Establishment of a Medical System with HBOC in Mind
1 Introduction
1.1 History of BRCA1/2 Clinical Practice in Japan
1.2 BRCA1/2 Genetic Test
1.3 Risk Reduction Surgery
1.4 Surveillance
1.5 PARP Inhibitor
1.6 Chemoprevention
1.7 Beyond HBOC
1.8 Genetic Test for Family
2 Conclusion
References
Guidelines for Diagnosis and Treatment of HBOC: Methods and Products
1 Purpose of the Guidelines
2 Significance of Guideline Creation
3 Method of Preparation of These Guidelines
3.1 Preparation Members
3.2 Establishment of Clinical Queries
3.3 Systematic Review and Evidence Synthesis
3.4 Recommendation-Making
4 Type of Recommendation
5 External Evaluation
6 Summary
HBOC from a Plastic Surgeon's Perspective
1 Breast Reconstruction in Japan
2 RRM and Breast Reconstruction for HBOC in the Era of Self-Funded Treatment
3 BIA-ALCL and the "Allergan Crisis" in Japan
4 Properly Fearing BIA-ALCL
5 Breast Reconstruction After RRM After Insurance Coverage of RRM
6 Fat Grafting
7 Lifestyle and Life Stage
References
Part II: Gynecology
Serous Tubal Intraepithelial Carcinoma (STIC) and Precancerous Lesions in Risk-Reducing Salpingo-oophorectomy (RRSO) Specimens
1 Introduction
2 HBOC and Ovarian Cancer
3 Significance of RRSO and Pathological Examination
4 Occult Cancer in RRSO Specimens
5 Precancerous Lesions in RRSO Specimens
5.1 STIC
5.1.1 STIC in RRSO Specimens
5.1.2 STIC Coexisting with HGSC
5.1.3 STIC in Benign Gynecological Specimens
5.2 STIL, p53 Signature
5.2.1 Frequencies of STIL and p53 Signature (Table 1)
5.2.2 Significance of p53 Signature and STIL
6 Future Prospective
Heterogeneities in Hereditary Cancer Genes as Revealed by a Large-Scale Genome Analysis
1 Background
1.1 Limited Information on Personalized Medicine for BRCA1 and BRCA2
1.2 Importance of Large-Scale Data
2 Risk and Frequency of Pathogenic Variants in 27 Hereditary Cancer Genes
2.1 BioBank Japan
2.2 Sequencing
2.3 Clinical Interpretation of Genetic Variants
2.4 Unified Analysis of >66,000 Individuals with Five Cancer Types
2.5 Risk and Frequency of Pathogenic Variants
2.6 Variants of Uncertain Significance
3 Heterogeneity
3.1 Between Genes
Contents
Part I: Breast
Establishment of a Medical System with HBOC in Mind
1 Introduction
1.1 History of BRCA1/2 Clinical Practice in Japan
1.2 BRCA1/2 Genetic Test
1.3 Risk Reduction Surgery
1.4 Surveillance
1.5 PARP Inhibitor
1.6 Chemoprevention
1.7 Beyond HBOC
1.8 Genetic Test for Family
2 Conclusion
References
Guidelines for Diagnosis and Treatment of HBOC: Methods and Products
1 Purpose of the Guidelines
2 Significance of Guideline Creation
3 Method of Preparation of These Guidelines
3.1 Preparation Members
3.2 Establishment of Clinical Queries
3.3 Systematic Review and Evidence Synthesis
3.4 Recommendation-Making
4 Type of Recommendation
5 External Evaluation
6 Summary
HBOC from a Plastic Surgeon's Perspective
1 Breast Reconstruction in Japan
2 RRM and Breast Reconstruction for HBOC in the Era of Self-Funded Treatment
3 BIA-ALCL and the "Allergan Crisis" in Japan
4 Properly Fearing BIA-ALCL
5 Breast Reconstruction After RRM After Insurance Coverage of RRM
6 Fat Grafting
7 Lifestyle and Life Stage
References
Part II: Gynecology
Serous Tubal Intraepithelial Carcinoma (STIC) and Precancerous Lesions in Risk-Reducing Salpingo-oophorectomy (RRSO) Specimens
1 Introduction
2 HBOC and Ovarian Cancer
3 Significance of RRSO and Pathological Examination
4 Occult Cancer in RRSO Specimens
5 Precancerous Lesions in RRSO Specimens
5.1 STIC
5.1.1 STIC in RRSO Specimens
5.1.2 STIC Coexisting with HGSC
5.1.3 STIC in Benign Gynecological Specimens
5.2 STIL, p53 Signature
5.2.1 Frequencies of STIL and p53 Signature (Table 1)
5.2.2 Significance of p53 Signature and STIL
6 Future Prospective
Heterogeneities in Hereditary Cancer Genes as Revealed by a Large-Scale Genome Analysis
1 Background
1.1 Limited Information on Personalized Medicine for BRCA1 and BRCA2
1.2 Importance of Large-Scale Data
2 Risk and Frequency of Pathogenic Variants in 27 Hereditary Cancer Genes
2.1 BioBank Japan
2.2 Sequencing
2.3 Clinical Interpretation of Genetic Variants
2.4 Unified Analysis of >66,000 Individuals with Five Cancer Types
2.5 Risk and Frequency of Pathogenic Variants
2.6 Variants of Uncertain Significance
3 Heterogeneity
3.1 Between Genes