BOOK
The Role of Genetic Testing in Surgical Oncology, An Issue of Surgical Oncology Clinics of North America, E-Book
(2016)
Additional Information
Book Details
Abstract
This issue of Surgical Oncology Clinics of North America, edited by Thomas Weber, MD, is devoted to Genetic Testing in Surgical Oncology. Articles in this issue include: The Critical Importance of Timely Genetic Testing; Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record; Cancer Family Registries: Vital Tools for Patient Management and Cancer Genetics Translational Research; The Genetics of Breast Cancer; The Genetics of Colorectal Cancer: HNPCC, FAP MYH, and Hamartomatous Syndromes Including Peutz-Jeghers and Jevenile Polyposis; Hereditary Gastric Cancer Syndromes; Hereditary Pancreatic Cancer Syndromes; Hereditary Melanoma: Genetics and Multidisciplinary Management; Multiple Endocrine Neoplasia: Genetics and Clinical Management; Sequence Variants of Uncertain Significance (VUS): What To Do When Genetic Testing Results Are Not Definitive; Confidentiality and the Risk of Genetic Discrimination: What Surgeons Need to Know; and A Certified Genetic Counselor: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Solid Tumor Syndromes.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| The Role of GeneticTesting in SurgicalOncology | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| CONSULTING EDITOR | iii | ||
| EDITOR | iii | ||
| AUTHORS | iii | ||
| Contents | v | ||
| Foreword\r | v | ||
| Preface: Surgical Oncology in the Age of Genomic Medicine\r | v | ||
| Alison’s Story—A Cautionary Tale in the Age of Genomic Medicine\r | v | ||
| Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record\r | v | ||
| Certified Genetic Counselors: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Cancer Sy ... | v | ||
| Confidentiality & the Risk of Genetic Discrimination: What Surgeons Need to Know\r | vi | ||
| The Genetics of Colorectal Cancer\r | vi | ||
| The Genetics of Breast Cancer: What the Surgical Oncologist Needs to Know\r | vi | ||
| Hereditary Pancreatic Cancer Syndromes\r | vi | ||
| Hereditary Gastric Cancer Syndromes\r | vii | ||
| Genetic Testing in the Multidisciplinary Management of Melanoma\r | vii | ||
| Multiple Endocrine Neoplasia: Genetics and Clinical Management\r | vii | ||
| Sequence Variants of Uncertain Significance: What to Do When Genetic Test Results Are Not Definitive\x0B | viii | ||
| SURGICAL ONCOLOGY\rCLINICS OF NORTH AMERICA\r | ix | ||
| FORTHCOMING ISSUES | ix | ||
| January 2016 | ix | ||
| April 2016 | ix | ||
| July 2016 | ix | ||
| RECENT ISSUES | ix | ||
| July 2015 | ix | ||
| April 2015 | ix | ||
| January 2015 | ix | ||
| Foreword | xi | ||
| Preface: Surgical Oncology in the Age of Genomic Medicine\r | xiii | ||
| REFERENCE | xv | ||
| Alison’s Story—A Cautionary Tale in the Age of Genomic Medicine | 635 | ||
| Key points | 635 | ||
| Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record | 639 | ||
| Key points | 639 | ||
| REASONS FOR COLLECTING AND DOCUMENTING A CANCER FAMILY HISTORY | 640 | ||
| THE PROCESS OF COLLECTING AND DOCUMENTING CANCER FAMILY HISTORY | 641 | ||
| How to Start | 641 | ||
| CIRCUMSTANCES THAT MAKE FAMILY HISTORY COLLECTION A CHALLENGE | 642 | ||
| UPDATING A FAMILY HEALTH HISTORY | 644 | ||
| REQUESTING A GENETIC CONSULT BASED ON THE FAMILY HEALTH HISTORY | 644 | ||
| AVERAGE/POPULATION RISK | 645 | ||
| INCREASED RISK | 645 | ||
| WHO CAN BENEFIT FROM A REFERRAL FOR GENETIC CONSULTATION? | 647 | ||
| A NOTE ABOUT CONFIDENTIALITY | 647 | ||
| FORMATS AND PLACEMENT OF A DOCUMENTED FAMILY HISTORY | 647 | ||
| SUMMARY | 649 | ||
| REFERENCES | 649 | ||
| Certified Genetic Counselors | 653 | ||
| Key points | 653 | ||
| WHAT IS GENETIC COUNSELING? | 653 | ||
| WHAT IS A CERTIFIED GENETIC COUNSELOR? | 654 | ||
| Why Is Certification Important | 654 | ||
| ARE GENETIC COUNSELORS LICENSED? | 654 | ||
| WHO SHOULD BE REFERRED FOR CANCER GENETIC COUNSELING? | 655 | ||
| HOW DOES USE OF GENETIC COUNSELING SERVICES IMPROVE THE QUALITY OF CARE PROVIDED BY THE PRACTICING SURGICAL ONCOLOGIST? | 655 | ||
| WHAT HAPPENS IN PRETEST CANCER GENETIC COUNSELING? | 656 | ||
| WHAT HAPPENS IN POSTTEST CANCER GENETIC COUNSELING? | 661 | ||
| HOW CAN A CANCER GENETICS DATABASE OR REGISTRY HELP? | 662 | ||
| HOW TO FIND OR HIRE A CANCER GENETIC COUNSELOR? | 662 | ||
| Referral to a Local Cancer Genetics Program | 663 | ||
| Partnering with a Local Cancer Genetics Program to Provide On-Site Services | 663 | ||
| Using a National Telephone Genetic Counseling Service for Patients | 664 | ||
| Hiring a Cancer Genetic Counselor | 664 | ||
| REFERENCES | 664 | ||
| Confidentiality & the Risk of Genetic Discrimination | 667 | ||
| Key points | 667 | ||
| INTRODUCTION | 667 | ||
| CURRENT LEGAL FRAMEWORK IN THE UNITED STATES REGARDING GENETIC DISCRIMINATION AND GENETIC INFORMATION PRIVACY | 668 | ||
| The Americans with Disabilities Act | 668 | ||
| Confidentiality and the Health Insurance Portability and Accountability Act | 668 | ||
| The portability section | 669 | ||
| The Health Insurance Portability and Accountability Act privacy rule | 669 | ||
| Data protection | 669 | ||
| Disclosure | 669 | ||
| Patient rights | 669 | ||
| Organizations exempt from following privacy and security rules | 669 | ||
| State laws prohibiting genetic discrimination | 669 | ||
| Genetic Information Nondiscrimination Act | 670 | ||
| Interaction of the Genetic Information Nondiscrimination Act with the Affordable Care Act | 672 | ||
| WADING THROUGH THE MISCONCEPTIONS TO DELIVER OPTIMAL MEDICAL CARE | 673 | ||
| FAMILY IMPLICATIONS | 676 | ||
| Benefits and Challenges to Family Members | 676 | ||
| Maintain Confidentiality in Light of Sharing Information with Family Members | 677 | ||
| Disclosure of Result if the Patient Dies | 677 | ||
| EMERGING ISSUES | 678 | ||
| Genome Sequencing | 678 | ||
| Social Media/Scenarios | 678 | ||
| SUMMARY | 679 | ||
| REFERENCES | 679 | ||
| The Genetics of Colorectal Cancer | 683 | ||
| Key points | 683 | ||
| INTRODUCTION | 683 | ||
| LYNCH SYNDROME | 684 | ||
| Features | 684 | ||
| Testing | 685 | ||
| Guidelines | 685 | ||
| Additional testing criteria and probability models | 685 | ||
| Universal tumor testing | 689 | ||
| Multigene testing | 690 | ||
| Management | 690 | ||
| Screening recommendations | 690 | ||
| Surgical decision-making following colorectal cancer diagnosis in Lynch syndrome | 691 | ||
| Chemoprevention | 691 | ||
| FAMILIAL ADENOMATOUS POLYPOSIS AND ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS | 692 | ||
| Background | 692 | ||
| Features | 692 | ||
| Testing | 692 | ||
| Management | 693 | ||
| Screening and risk-reducing strategies | 693 | ||
| MUTYH-ASSOCIATED POLYPOSIS | 693 | ||
| Background | 693 | ||
| Features | 694 | ||
| Genetic Testing | 694 | ||
| Management | 694 | ||
| PEUTZ-JEGHERS SYNDROME AND JUVENILE POLYPOSIS SYNDROME | 694 | ||
| Background | 694 | ||
| Features | 695 | ||
| Genetic Testing and Diagnosis | 695 | ||
| Management | 696 | ||
| SUMMARY | 696 | ||
| REFERENCES | 696 | ||
| The Genetics of Breast Cancer | 705 | ||
| Key points | 705 | ||
| INTRODUCTION | 705 | ||
| THE PRIME EXEMPLAR: HEREDITARY BREAST AND OVARIAN CANCER ASSOCIATED WITH BRCA1 AND BRCA2 MUTATIONS | 706 | ||
| BACKGROUND | 707 | ||
| GENETIC TESTING AND BRCA MUTATIONS | 707 | ||
| BRCA MUTATIONS AND FOUNDER POPULATIONS | 709 | ||
| TESTING STRATEGIES AND LIMITATIONS FOR PATIENTS WITHOUT CANCER | 709 | ||
| BRCA-ASSOCIATED RISK, VARIABLE PENETRANCE, AND THE INDICATIONS FOR PROPHYLACTIC SURGERY | 709 | ||
| BRCA-ASSOCIATED BREAST CANCER PATHOLOGY | 712 | ||
| THE ISSUE OF IONIZING RADIATION EXPOSURE: AGE-SPECIFIC WINDOW OF VULNERABILITY | 712 | ||
| BRCA-ASSOCIATED RISK FOR OVARIAN CANCER: THE CLEAREST MEDICAL NECESSITY | 713 | ||
| MRI SCREENING FOR WOMEN AT HIGH RISK OF BREAST CANCER | 714 | ||
| OTHER GENETIC SYNDROMES ASSOCIATED WITH BREAST CANCER | 715 | ||
| Li-Fraumeni Syndrome (LFS) | 715 | ||
| Cowden disease (CD) | 717 | ||
| Hereditary Diffuse Gastric Cancer and Lobular Breast Cancer (HDGC) | 717 | ||
| Partner and localizer of BRCA2 (PALB2) | 718 | ||
| Ataxia-Telangiectasia Mutated (ATM) gene | 718 | ||
| Checkpoint kinase 2 (CHEK2) | 718 | ||
| MULTIGENE PANELS: THE “SHOTGUN” APPROACH | 719 | ||
| CANCER RISK AND MUTATION PROBABILITY MODELS | 719 | ||
| SUMMARY | 720 | ||
| REFERENCES | 720 | ||
| Hereditary Pancreatic Cancer Syndromes | 733 | ||
| Key points | 733 | ||
| INTRODUCTION | 733 | ||
| CLINICAL AND EPIDEMIOLOGIC OVERVIEW | 734 | ||
| RISK FACTORS | 735 | ||
| PATHOLOGY | 738 | ||
| HEREDITARY SYNDROMES ASSOCIATED WITH PANCREATIC DUCTAL ADENOCARCINOMA | 740 | ||
| Overall | 740 | ||
| Hereditary Breast and Ovarian Cancer Syndrome | 740 | ||
| Lynch Syndrome | 742 | ||
| Familial Adenomatous Polyposis | 742 | ||
| Peutz-Jeghers Syndrome | 743 | ||
| Familial Atypical Multiple Mole Melanoma Syndrome | 743 | ||
| Hereditary Pancreatitis | 743 | ||
| Cystic Fibrosis | 744 | ||
| Ataxia Telangiectasias | 744 | ||
| Familial Pancreatic Cancer | 745 | ||
| STRATEGIES FOR THE IDENTIFICATION OF MUTATION CARRIERS | 746 | ||
| CLINICAL MANAGEMENT OPTIONS FOR UNAFFECTED MUTATION CARRIERS | 748 | ||
| CLINICAL MANAGEMENT OPTIONS FOR MUTATION CARRIERS DIAGNOSED WITH THE ASSOCIATED DISEASE PHENOTYPE | 749 | ||
| SUMMARY | 750 | ||
| REFERENCES | 750 | ||
| Hereditary Gastric Cancer Syndromes | 765 | ||
| Key points | 765 | ||
| INTRODUCTION | 765 | ||
| IDENTIFICATION OF THOSE AT RISK | 766 | ||
| HEREDITARY DIFFUSE GASTRIC CANCER | 766 | ||
| Clinical Features | 766 | ||
| Genetics | 766 | ||
| Genetic Counseling and Testing of Hereditary Diffuse Gastric Cancer | 769 | ||
| Endoscopic Surveillance | 770 | ||
| Surgical Management of Hereditary Diffuse Gastric Cancer | 771 | ||
| Preoperative considerations | 771 | ||
| Operative procedure | 771 | ||
| Management of Cancers at Other Sites | 771 | ||
| FAMILIAL INTESTINAL GASTRIC CANCER | 772 | ||
| GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH | 772 | ||
| GASTRIC CANCER IN OTHER HEREDITARY CANCER SYNDROMES | 772 | ||
| FUTURE DIRECTIONS | 773 | ||
| SUMMARY | 773 | ||
| ONLINE SOURCES | 774 | ||
| REFERENCES | 774 | ||
| Genetic Testing in the Multidisciplinary Management of Melanoma | 779 | ||
| Key points | 779 | ||
| INTRODUCTION | 779 | ||
| Clinical and Epidemiologic Overview | 779 | ||
| Risk Factors | 780 | ||
| SOMATIC GENETIC ALTERATIONS ASSOCIATED WITH MELANOMA CARCINOGENESIS | 780 | ||
| Tyrosine Kinases | 780 | ||
| RAS/RAF/MEK/ERK and Phosphoinositide 3-Kinase Pathways | 782 | ||
| GERMLINE (HEREDITARY) GENETIC ALTERATIONS ASSOCIATED WITH MELANOMA PREDISPOSITION | 783 | ||
| CDKN2A (P16) | 783 | ||
| Telomeres | 784 | ||
| Cyclin-Dependent Kinases | 784 | ||
| Phosphatase and Tensin Homologue, 9p21, and Additional Candidate Loci for Melanoma Predisposition | 785 | ||
| Melanocortin 1 Receptor | 785 | ||
| Microphthalmia-Associated Transcription Factor | 786 | ||
| BRCA | 786 | ||
| The Current Role of Genetic Testing in the Clinical Management of Melanoma | 786 | ||
| Clinical Assessment of Melanoma Risk | 786 | ||
| SUMMARY | 787 | ||
| REFERENCES | 788 | ||
| Multiple Endocrine Neoplasia | 795 | ||
| Key points | 795 | ||
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 795 | ||
| EARLY DIAGNOSIS OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 796 | ||
| PARATHYROID DISEASE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 796 | ||
| PITUITARY TUMORS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 800 | ||
| PANCREATIC NEUROENDOCRINE TUMORS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 800 | ||
| MANAGEMENT OF RARE FUNCTIONAL PANCREATIC NEUROENDOCRINE TUMORS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 808 | ||
| STOMACH, THYMIC, AND BRONCHIAL NEUROENDOCRINE TUMORS AND ADRENAL CORTICAL TUMORS | 808 | ||
| MANAGEMENT OF METASTATIC DISEASE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 811 | ||
| Multiple Endocrine Neoplasia Type 4 | 812 | ||
| Multiple Endocrine Neoplasia Type 2 | 812 | ||
| DISCOVERY OF THE MEDULLARY THYROID CARCINOMA SYNDROMES | 813 | ||
| RET PROTO-ONCOGENE | 814 | ||
| GENETIC TESTING AND RISK STRATIFICATION | 814 | ||
| GENOTYPE AND PHENOTYPE | 815 | ||
| PROPHYLACTIC THYROIDECTOMY | 815 | ||
| Multiple Endocrine Neoplasia Type 2 | 816 | ||
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B | 818 | ||
| FAMILIAL MEDULLARY THYROID CARCINOMA | 818 | ||
| SUMMARY OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 | 819 | ||
| MANAGEMENT OF METASTATIC DISEASE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA TYPE 3, AND FAMILIAL ... | 819 | ||
| REFERENCES | 819 | ||
| Sequence Variants of Uncertain Significance | 833 | ||
| Key points | 833 | ||
| TERMINOLOGY AND DEFINITIONS IN CANCER GENETICS | 833 | ||
| Basic Genetics | 834 | ||
| Missense | 834 | ||
| Nonsense | 834 | ||
| Frameshift | 834 | ||
| Insertion or deletion | 834 | ||
| Splicing | 835 | ||
| Regulatory | 835 | ||
| Silent | 835 | ||
| Genetic Variation Nomenclature | 835 | ||
| CLASSIFYING VARIANTS | 835 | ||
| VARIANTS IN COMMON AND RARE HEREDITARY CANCER SYNDROMES | 836 | ||
| INTERPRETING GENETIC TESTING RESULTS | 837 | ||
| Pathogenic Variant Detected | 837 | ||
| Pathogenic DNA Variant Not Detected | 837 | ||
| Who was tested? | 837 | ||
| What test was done? | 838 | ||
| Identification of a Variant of Uncertain Significance | 838 | ||
| SEEKING EVIDENCE FOR PATHOGENICITY IN ASSESSING VARIANTS OF UNCERTAIN SIGNIFICANCE | 838 | ||
| ASSOCIATION, OR LACK OF ASSOCIATION, OF THE VARIANT WITH HEREDITARY CANCER | 839 | ||
| Segregation: Finding the Variant in Multiple Affected Family Members | 839 | ||
| Population Frequency | 839 | ||
| Occurrence of the Variant in Other Families with Hereditary Cancer | 840 | ||
| Tumor Characteristics | 840 | ||
| Co-occurrence of Variants of Uncertain Significance with a Known Inherited Pathogenic Variant of the Gene | 841 | ||
| ASSOCIATION OF A VARIANT WITH ABNORMAL PROTEIN STRUCTURE, FUNCTION, OR EXPRESSION | 841 | ||
| Functional Analysis | 841 | ||
| Computational (in Silico) Analysis of Gene and Protein | 841 | ||
| CLASSIFYING VARIANTS BY COMBINING EVIDENCE | 842 | ||
| SUMMARY: TRANSLATION INTO CLINICAL MANAGEMENT | 842 | ||
| An Example of a Challenging Variant of Uncertain Significance Scenario | 842 | ||
| REFERENCES | 844 |