Hereditary Gynecologic Cancer Risk Prevention and Management 1st Edition by Karen Lu ISBN 142005287X 978-1420052879
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ISBN 10: 142005287X
ISBN 13: 978-1420052879
Author: Karen Lu
Hereditary Gynecologic Cancer: Risk, Prevention and Management fills the need that exists for a book addressing highly relevant clinical issues associated with the new field of hereditary gynecologic cancers. Written with the clinician in mind, the authors will cover a broad range of topics, beginning with an overview discussing clinical relevance of hereditary ovarian and hereditary endometrial cancers. Succeeding sections will provide in-depth analyses of Hereditary Breast Ovarian Cancer Syndrome, Lynch Syndrome, and other syndromes with gynecologic cancer components, and genetic risk assessment.
Hereditary Gynecologic Cancer Risk Prevention and Management 1st Table of contents:
1. Clinical Relevance of Hereditary Ovarian Cancer
Background and History
The Genetic Basis To Hereditary Ovarian Cancer
Hereditary Ovarian Cancer: Genes and Disease Patterns
Risk Associated with Mutations in Ovarian Cancer Susceptibility Genes
Identification of Women at Risk for Hereditary Ovarian Cancer
Hereditary Cancer Risk Assessment and the Oncologist
Hereditary Cancer Risk Assessment and the Obstetrician/Gynecologist and Primary Care Provider
Questions Related To the Benefits and Risks of Genetic Evaluation
Clinical Benefits and Management Options Following Genetic Assessment
Risks and Limitations of Genetic Evaluation
References
2. Clinical Relevance of Hereditary Endometrial Cancer
Introduction
What Is Lynch Syndrome?
Identification of Individuals with Lynch Syndrome
Identifying Individuals Who Have Lynch Syndrome
Age Under 50
Synchronous or Metachronous Cancers
Family History
Tumor Histology
Using Red Flags in Everyday Practice
Overall Survival
Summary
References
3. Pathology of BRCA-Associated Ovarian Cancers, Including Occult Cancers
Introduction
General Aspects of BRCA Mutation–Associated Pelvic Cancer
Histopathologic Features and Stage of Presentation for Hereditary Pelvic Cancers
Site of Origin for BRCA+ Malignancies
Intraepithelial Carcinoma of the Distal Fallopian Tube
A Carcinogenic Sequence in the Distal Tube (The P53 Signature)
A Model for Pelvic Serous Carcinogenesis in the BRCA+ Woman
Are BRCA+ Pelvic Cancers Different From Sporadic Tumors?
Clinical Considerations
References
4. Ovarian Cancer Screening
Challenges for An Ovarian Cancer Screening Test
Available Serum Tumor Markers
Novel Tumor Markers
Ovarian Cancer Screening in the Low-Risk Population
Ovarian Cancer Screening in the High-Risk Population
Ovarian Cancer Screening Program Acceptability Among High-Risk Women
Conclusion
References
5. Current Concepts in Chemoprevention of Ovarian Cancer
Introduction
Ovarian Cancer Screening in the General Population
Historical Perspectives and Observations
Chemoprevention Strategies
Oral Contraceptives in the General Population
Oral Contraceptive Use in a High-Risk Population
Nonsteroidal Anti-inflammatory Drugs
Retinoid Derivatives
Development of Models of Spontaneous Ovarian Carcinogenesis
Rodent-Based Models
Avian Hen Model
Evaluation of Chemopreventive Agents in Individuals at Risk for Ovarian Carcinoma
Current Clinical Practice of Chemoprevention of Ovarian Cancer in High-Risk Populations
Conclusions
References
6. Risk-Reducing Salpingo-Oophorectomy for the Prevention of Inherited Breast and Ovarian Cancer
Introduction
The History Behind Risk-Reducing Salpingo-Oophorectomy
Risk-Reducing Salpingo-Oophorectomy in BRCA1 and BRCA2 Mutation Carriers
Surgical Technique
Hysterectomy at the Time of RRSO
Pathologic Evaluation of RRSO Specimens
Management Following RRSO
Impact of RRSO on Other Health Risks
Timing of RRSO
RRSO in Women Without a Demonstrable BRCA1 Or BRCA2 Mutation
Conclusions and Future Directions
Acknowledgments
References
7. Risk Management of Hereditary Breast Cancer
Introduction
Screening
Chemoprevention
Selective Estrogen Receptor Modulators
New Potential Agents
Prophylactic Mastectomy
Prophylactic Oophorectomy
Integration of Genetic Risk Information into Breast Cancer Management
Psychosocial Aspects
Conclusions
References
8. Management of BRCA Mutation-Negative Patients
Introduction
Causes of BRCA-Negative Hereditary Breast Cancer
Coincidental Clustering
The Individual Tested Is a Phenocopy
Other Breast Cancer Susceptibility Genes
Polygenic Model
Undetectable Mutations in BRCA1 and BRCA2
Clinical Management
Site-Specific Breast Cancer Families
Conclusion
References
9. Therapy and Prognosis of BRCA-Associated Ovarian Cancer
Introduction
The Role of BRCA1 and BRCA2 in Ovarian Cancer
Prognosis of BRCA-Associated Ovarian Cancer
Evidence for an Improved Prognosis
Evidence for a Poorer Prognosis
Mechanisms for BRCA-Associated Survival Advantage
Therapy for BRCA-Associated Ovarian Cancer
Conclusion
References
10. Molecular Genetics and Cancer Risks in Lynch Syndrome
Introduction
Dna Replication
Mismatch Repair
Microsatellite Instability
The MMR System
Mismatch Identification
Recruitment of Repair Enzymes
Removal of Damaged Dna
Resynthesis of the Correct Sequence
MMR Genes and Apoptosis
MMR Dysfunction
Germline Mutations
Outcome of Germline Mutations in MMR Genes
Mutations in hMLH1 and hMsh2
hMsh6 Mutations
Promoter Methylation
Carcinogenic Effects of MMR Dysfunction
Germline MMR Gene Mutation Compared with hMLH1 Methylation in Gynecological Tumors
Survival in Tumors with Defective MMR
Ovarian Cancer
Conclusions
References
11. Pathology of Lynch Syndrome-Associated Gynecological Cancers
Introduction
Pathology of Endometrial Carcinoma
Pathology of Endometrial Carcinoma in Lynch Syndrome
Microscopic Features of Msi-High Endometrial Carcinoma
Ovarian Cancer in Lynch Syndrome
Handling of the Prophylactic Surgery Specimen
Tissue Testing for Identifying Women with Lynch Syndrome
References
12. Endometrial and Ovarian Cancer Screening and Prevention in Womenwith LynchSyndrome
Introduction
Surveillance
Goals of Surveillance
Hnpcc/Lynch Pathology Characteristics
Criteria for Screening
Surveillance Studies
Compliance with Screening
Physician and Patient Awareness
Chemoprevention
Conclusions
References
13. Colon Cancer and Other Lynch Cancers: Screening and Prevention
Introduction
Surveillance and Prevention
Colon Cancer
Gastric Cancer
Small Bowel Cancer
Urothelial Cancer
Summary
References
14. Endometrial and Ovarian Cancer Risk-Reducing Surgery in Women with Lynch Syndrome
Introduction
Risk-Reducing Surgery for Endometrial and Ovarian Cancer
Occult Cancers at the Time of Prophylactic Surgery
Primary Peritoneal Cancer Following Prophylactic Bso
Synchronous and Metachronous Colorectal and Endometrial or Ovarian Cancer
Disadvantages of Prophylactic Surgery
Summary
References
15. Other Syndromes
Introduction
Peutz-Jeghers Syndrome
Background and History
Genetics
PJS-Associated Tumors
Skin
Gastrointestinal Tract
Genital Tract
Malignancies
Clinical Recommendations
Cowden Syndrome
Background and History
Genetics
Diagnostic Criteria
CS-Associated Tumors
Skin
Gastrointestinal Tract
Central Nervous System
Neck
Breasts
Genitourinary Tract
Malignancies
Clinical Recommendations
Li–Fraumeni Syndrome
Background and History
Genetics
LFS-Associated Tumors
Component Tumors
LFS and Gynecologic Cancer
Clinical Recommendations
References
16. Genetic Risk Assessment for Hereditary Ovarian Cancer: BRCA1 and BRCA2
Introduction
Referral for Genetic Risk Assessment
Referral of the Ovarian Cancer Patient
Timing of Referral for the Ovarian Cancer Patient
Genetic Counseling and Genetic Testing for BRCA1 and BRCA2
Obtaining An Accurate Cancer Family History
Importance of Medical Record Confirmation
Risk Estimation Models
Informed Consent
Ordering Clinical BRCA Testing
Genetic Test Results and Interpretation
Results Disclosure and Follow-Up
Client Resources for the Future
Importance of Continued Contact
Dna Banking
Conclusion
References
17. Genetic Risk Assessment for Hereditary Endometrial Cancer: Lynch Syndrome
Introduction
Age of Onset of Endometrial Cancer as a Risk Factor for Lynch Syndrome
Personal History of Other Cancers as a Risk Factor for Lynch Syndrome
Family History of Cancer as a Risk Factor for Lynch Syndrome
The Role of Msi and Ihc Analysis of Tumors To Identify Lynch Syndrome
Molecular Genetic Testing for Lynch Syndrome
Genetic Counseling for Lynch Syndrome
Conclusion
References
18. Legal Aspects of Genetic Testings
Introduction
Legislation On Genetic Discrimination
Duties and Obligations of the Physician
Duty to Warn
Duty to Provide a Standard of Care
Conclusion
Resources for Health Care Providers and Patients
References
19. Psychological Impact of Genetic Counseling and Testing for Hereditary Gynecologic Cancers
Introduction
Uptake of Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome
Genetic Testing for BRCA1/BRCA2 Mutations
Genetic Testing for Lynch Syndrome-Associated Mutations
The Psychological Impact of Undergoing Genetic Counseling and Testing
BRCA1/BRCA2 Testing
Lynch Syndrome
Family Communication About Genetic Testing and Inherited Cancer Risk
Risk Management Recommendations for Carriers of BRCA1/ BRCA2 and Lynch Syndrome-Associated Mutations: Decision Making and Psychological Consequences
Screening for Gynecologic Cancers
Ovarian Cancer Screening in BRCA1/BRCA2 Mutation Carriers
Endometrial Cancer Screening in Lynch Syndrome
Risk-Reducing Surgery
Risk-Reducing Salpingo-Oophorectomy in BRCA1/BRCA2 Mutation Carriers
Risk-Reducing Hysterectomy and Oophorectomy in Lynch Syndrome
Implications for Future Research and Clinical Practice
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