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Self-Directed Review in Genetic Cancer Risk Assessment
Fundamentals of Genetics
SDR2 Bundle 01
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Basic Genetics Primer, Part 1
- Describe the basic principles of gene structure, function, and regulation
- Appreciate the nature and consequences of major types of gene mutations
Basic Genetics Primer, Part 2
- Outline the principles of Mendelian inheritance
- Identify the features of incomplete penetrance and variable expressivity
- Recognize how genetic mechanisms such as de novo mutations, mosaicism and imprinting can affect the pattern of cancer in a family
The Basic Science of Cancer Genetics
- Distinguish the differences between somatic and germline mutations
- Describe the roles of oncogenes and tumor suppressor genes in signal transduction and cell cycle control
- Review the mechanisms of DNA damage
Essential Components of the GCRA Process, Genetic/Genomic Testing
SDR2 Bundle 02
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The Fundamentals of GCRA
- Describe fundamentals of the genetic cancer risk assessment (GCRA) process
- Take a comprehensive cancer family history
- Explain the importance of and strategies for confirming key cancers
- Identify sporadic, familial, and hereditary cancer patterns
Documenting the Cancer Family History
- Recognize the importance of eliciting, documenting and verifying the patient family history
- Collect family history information, focusing on details and questions relevant to cancer history documentation
- Draw a 3-4 generation pedigree using standard pedigree nomenclature and symbols
- Demonstrate skills associated with proficiency in collecting and documenting the family history of cancers
Reading the Pathology Report through the Genomics Lens
- Apply reading and interpreting pathology reports to define cancer stage and extract information on histology/molecular features
- Describe the roles of other diagnostic data (imaging, CT scans, blood marker
Laboratory Methods for Inherited Cancer Susceptibilities
- Identify the methods, benefits, and limitations of different types of NGS cancer panels
- Recognize approaches to variant interpretation and reporting
- Apply understanding of different types of genetic tests to clinical vignettes
Characterization and Clinical Interpretation of Germline Genomic Variants
- Review types of genetic variants
- Outline the ACMG standards and guidelines for variant classification
- Describe the methods, resources, and tools used to classify variants
- Discuss approaches to re-classifying variants of uncertain significance (VUS)
Variant Nomenclature: Reading and Interpreting Genetic Test Results
- Recognize various types of genetic variants
- Distinguish between different types of variant nomenclature
- Interpret a genetic test report
Hereditary Breast and Ovarian Cancer Syndromes
SDR2 Bundle 03
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Hereditary Breast and Ovarian Cancer Syndromes
- Recognize features of high-penetrance hereditary breast and ovarian cancer syndromes
- Describe the genetic etiologies of hereditary breast and ovarian cancer
- Review the impact of founder mutations associated with BRCA1 and BRCA2 hereditary breast and ovarian cancer
- Examine the benefits and limitations of genetic analysis and risk management for hereditary breast/ovarian cancer.
Hereditary Breast and Ovarian Cancer Syndromes: Moderate Risk Genes
- Describe the differences between high, moderate, and low penetrance cancer susceptibility genes
- Recognize that cancer susceptibility genes on clinical panels are not always actionable
- Identify the benefits and limitations in moderate and low penetrance cancer susceptibility genes in clinical multi gene testing panels
Hereditary Breast/Ovarian Cancer Risk Assessment
- Apply mutation probability and empiric risk assessment models for breast cancer
- Formulate an evaluation & management plan
Clinical Management of Hereditary Breast Cancers
- Review the tools for high-risk breast and ovarian cancer screening
- Identify the role and efficacy of breast and ovarian cancer surgical risk reduction
- Recognize the role of chemoprevention options for breast and ovarian cancer risk reduction
- Use evidence-based guidelines to inform risk management recommendations for patients with pathogenic variants in high or moderate penetrance breast and ovarian cancer susceptibility genes
- Apply individualized screening and risk management options and recommendations to case examples
Hereditary Gastrointestinal Cancer Syndromes
SDR2 Bundle 04
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Hereditary Gastrointestinal Cancer Syndromes, Part 1: Lynch Syndrome
- Recognize the features of hereditary gastrointestinal and other cancers associated with Lynch Syndrome
- Discuss the methods and limitations of tumor screening for Lynch syndrome
- Identify the features and mode of inheritance of Constitutional Mismatch Repair Deficiency (CMMRD)
- Recognize the characteristics of Familial Colorectal Cancer (CRC) Type X
Significance and Practical Applications for Tumor Phenotyping (IHC/MSI) in Hereditary Cancer Risk Assessment
- Review the mismatch repair (MMR) mechanism and the association of MMR deficiency in Lynch Syndrome
- Recognize the importance of universal MSI/IHC tumor screening on newly diagnosed colorectal and endometrial cancers
- Review EGAPP recommendations
- Utilize MSI/IHC screening results for risk assessment in clinical cases
Hereditary Gastrointestinal Cancer Syndromes, Part 2: Polyposis
- Identify the features distinguishing different hereditary polyposis syndromes
- Recognize the association between polyp histology and potential germline genetic predisposition to a polyposis syndrome
- Discern the features of different polyposis syndromes, including: Familial adenomatous polyposis; MutYH-associated polyposis; Hamartomatous polyposis syndromes; Serrated polyposis syndrome
Hereditary Gastrointestinal Cancer Syndromes, Part 3: Gastric Pancreatic
- Recognize the features of hereditary gastric cancers.
- Recognize the features of hereditary pancreatic cancers.
- Apply appropriate germline genetic testing strategies for hereditary gastrointestinal syndromes.
Hereditary Endocrine and Genitourinary Cancer Syndromes
SDR2 Bundle 05
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Hereditary Endocrine Neoplasias
- Recognize clinical features of hereditary endocrine neoplasia syndromes
- Appreciate risks, benefits and limitations of genetic testing
- Identify resources to inform risk management for individuals with hereditary endocrine neoplasias
Genitourinary Cancer Syndromes
- Recognize inherited urologic disorders associated with kidney cancer
- Distinguish renal tumor pathologies associated with several inherited kidney cancer syndromes
- Identify appropriate kidney cancer patients for genetic counseling/testing
Hereditary Prostate Cancer
- Discuss current genetic etiologies of hereditary prostate cancer
- Recognize features warranting genomic evaluation associated with prostate cancer
- Explain the methods and limitations of genetic analysis for hereditary prostate cancer
Pediatric Cancer Syndromes, Hereditary Hematologic Cancer Syndromes
SDR2 Bundle 06
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Pediatric Cancer Syndromes
- Recognize clinical features of hereditary cancer syndromes with pediatric manifestations
- Recognize the conditions under which a pediatric cancer patient should be referred to Clinical Genetics
- Provide education on hereditary cancer syndromes with pediatric manifestations to parents, patients and providers in age appropriate manner
Pediatric Cancer Syndromes: Counseling Issues
- Identify genetic counseling and testing issues associated with pediatric hereditary cancer syndromes
- Review limitations and benefits of different testing strategies
- Describe psychosocial impacts of genetic testing for children
Hereditary Hematologic Cancer Syndromes
- Identify key terminology and basics of hematologic disorder and malignancy subtypes
- Recognize how hematologic disorders can affect tissue selection and genetic test interpretation
- Review the current rationale, care impact, and guidelines for germline genetic evaluation for patients with hematologic disorders and cancers
- Identify patterns suggestive of hereditary hematologic malignancy disorders and expected yields of germline testing
Hereditary Genodermatoses, Hereditary Melanoma
SDR2 Bundle 07
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Hereditary Genodermatoses
- Define disease characteristics of hereditary syndromes classified as genodermatoses
- Identify the genes associated with hereditary syndromes that have cutaneous manifestations
- Recognize cancer risks associated with hereditary genodermatoses syndromes
Hereditary Melanoma
- Identify characteristics of hereditary melanoma and when to consider genetic testing
- Recognize the genes associated with hereditary melanoma
- Discuss clinical characteristics associated with CDKN2A gene and management recommendations
Tumor/Germline Testing; Understanding and Interpreting Clonal Hematopoiesis
SDR2 Bundle 08
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Tumor/Germline Analysis in GCRA Practice, Part 1
- Identify the distinctions between etiologies of germline and somatic genetics
- Review considerations prior to ordering germline and somatic genomic testing
- Discuss challenges in interpreting somatic testing results
- Recognize confounding somatic phenomena that can be captured in germline testing
Tumor/Germline Analysis in GCRA Practice, Part 2
- Compare the benefits and challenges of somatic panel, germline panel and paired somatic/germline sequencing
- Identify issues related to incidental findings in cancer sequencing
- Discriminate strategies used to interpret genomic data
- Examine ways that genomic data are changing cancer treatment paradigms
- Discuss some of the patient, provider, and system-level challenges to genomic test integration
Navigating Complex Genetic Test Results - Clonal Hematopoiesis
- Review the various possible mechanisms of both germline and somatic mosaicism
- Identify the various mechanisms that can be associated with an altered allelic fraction in a germline genetic test
- Discuss approaches to interpreting, further evaluating and following up on genetic test results reporting low allelic fractions
ELSI, Psycho-Social and Family Dynamics, Genetic Counseling Strategies
SDR2 Bundle 09
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Ethical, Legal, and Social Issues in Cancer Genetics
- Recognize ethical, legal and social issues relevant to cancer genetics counseling and testing
- Apply bioethical principles to counseling challenges
- Identify emerging legislation protecting against genetic discrimination
Psycho-social and Family Dynamics of Hereditary Cancers
- Recognize key psychological principles and how they generalize across hereditary cancer syndromes
- Discuss how psychological factors may interact with specific features of hereditary risk
- Review how these processes may effect emotional adjustment, decision-making, quality of life
- Identify family- and individual-level challenges commonly encountered in working with familial risk patients
- Review brief assessments and tools that can be incorporated into cancer risk consultations
- Identify red flags that indicate consideration of referral for psychological support
Mock Counseling Session, Mock Counseling Case Vignettes
- Observe the application of cancer risk assessment and counseling skills in the setting of mock initial and follow up genetic cancer risk assessment (GCRA) consultation sessions.
- Recognize the key elements of a comprehensive GCRA counseling process.
- Review the essential components of the informed consent process for genetic testing.
- Identify how to address ethical, legal and social issues with patients and families.
- Recognize key issues related to genetic test results interpretation, disclosure and communication of personalized risk management recommendations.
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