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Cancer Genetics Overview (PDQ®)

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Genetic Resources

Health care providers who deliver genetic services, including genetic counseling, can be located through local, regional, and national professional genetics organizations; through the NCI Web site Cancer Genetics Services Directory; and through the GeneTests Web site. Providers of cancer genetic services are not limited to one specialty and include medical geneticists, genetic counselors, advanced practice genetics nurses, oncologists (medical, radiation, or surgical), other surgeons, internists, family practitioners, and mental health professionals. A cancer genetics health care provider will assist in constructing and evaluating a pedigree, eliciting and evaluating personal and family medical histories, and calculating and providing information about cancer risk and/or probability of a mutation being associated with cancer in the family. In addition, if a genetic test is available, these providers can assist in pretest counseling, laboratory selection, informed consent, test interpretation, posttest counseling, and follow-up. The printable view of this summary contains a Table of Links at the end of the summary with the URLs of the Web sites listed in the Genetics Resources section.

Table 1. Clinical Genetics Information
Resource Description 
GeneTests Information for health professionals about hundreds of genetic tests and the laboratories performing those tests.
Human Genome Epidemiology Network (HuGENet) Network for sharing population-based human genome epidemiologic information.
National Institutes of Health Genetic Testing Registry (GTR) Central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials.
Online Mendelian Inheritance in Man (OMIM) Catalog of human genes and genetic disorders.

Table 2. Clinical Management Information
Resource Description 
Clinical Practice Guidelines from the American College of Medical Genetics (ACMG) Clinical practice guidelines developed by expert panels for risk assessment, testing, and counseling of individuals with various inherited conditions, including some cancers, or individuals with a high risk of developing these conditions.
Clinical Practice Guidelines from the American Society of Clinical Oncology (ASCO) Clinical practice guidelines developed by expert panels for specific clinical situations (disease-oriented) or use of approved medical products, procedures, or tests (modality-oriented).
National Comprehensive Cancer Network (NCCN) Guidelines Clinical practice guidelines developed by expert panels that detail the sequential management decisions and interventions for the malignant cancers that affect 97% of all patients with cancer. In addition, separate guidelines relate to major prevention and screening topics, and another set of pathways focuses on the major supportive care areas.
National Guideline Clearinghouse from the Agency for Healthcare Research and Quality (AHRQ) A public resource for evidence-based clinical practice guidelines.

Table 3. Consumer/Client: General Information
Resource Description 
Cancer Genetics Services Directory (National Cancer Institute [NCI]) Directory lists professionals who provide cancer genetics services (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others).
Dictionary of Genetics Terms (NCI) Definitions of more than 150 terms related to genetics.
The DNA Files Series of 14 one-hour public radio documentaries and related information.
Dolan DNA Learning Center Variety of educational resources, including an interactive DNA timeline.
Facing Our Risk of Cancer Empowered (FORCE) Support and information to individuals and families affected by hereditary breast and ovarian cancer through a toll-free help line, message boards, chat rooms, and support groups.
Genetic and Rare Diseases Information Center (National Human Genome Research Institute [NHGRI]): Information service for the general public, including patients and their families, and for health care professionals and biomedical researchers.
Genetic Science Learning Center (The University of Utah) Information about basic genetics, genetic disorders, genetics in society, and several thematic units.
Genetics Education Center Material for educators.
Genetics Home Reference (National Library of Medicine) Consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
Talking Glossary of Genetics Terms (NHGRI) Contains definitions of more than 200 terms related to genetics and a quiz to test your knowledge of genetic terminology. Many terms also have images, animations, and descriptions by specialists in the field of genetics.
Understanding Cancer Series (NCI) Primers on cancer genomics, genetic testing, genome-wide profiling, and other topics.
Understanding the Human Genome Project (NHGRI) An education kit that includes a dynamic timeline, a 3-D computer-animated video on basic molecular biology, and other classroom activities.

Table 4. Ethical, Legal, and Social Implications; Policy; and Legislation Information
Resource Description Links to articles on genetics and bioethics.
Bioethics Resources on the Web Links to bioethics resources.
DNA Patent Database Searchable database of U.S. DNA-based patents and patent applications issued by the U.S. Patent and Patent Applications Trademark Office.
Ethical, Legal, and Social Issues (U.S. Department of Energy) Information, articles, and links on a wide range of genetics issues. Information on the social, ethical, and policy issues associated with genetic and genomic knowledge and technology.
Genetic Information Nondiscrimination Act (GINA) of 2008 (National Human Genome Research Institute [NHGRI]) Fact sheet that describes genetic discrimination and GINA for the public.
GINA: An Overview (Coalition for Genetic Fairness) Describes GINA’s protections, including a history of the legislation, key examples, and definitions.
GINA of 2008 Information for Researchers and Health Care Professionals (NHGRI) Fact sheet that describes GINA for researchers and health professionals.
Genetics and Public Policy Center Information on public policy related to human genetic technologies for the public, media, and policy makers.
Genome Technology and Reproduction: Values and Public Policy and Communities of Color and Genetics Policy Project Two subprojects combined to form a 5-year project designed to provide policy recommendations based on public perceptions and responses to the explosion of genetic information and technology.
HumGen International Comprehensive international database on the legal, social, and ethical aspects of human genetics.
National Conference of State Legislatures Genetic Technologies Project Resources on a variety of genetics public policy and related issues for state legislators, legislative staff, and other policy makers.
National Information Resource on Ethics and Human Genetics (Georgetown University) Links to resources and databases on ethics and human genetics. Also includes annotated bibliographies on various genetics and ethics issues.
National Society of Genetic Counselors Code of Ethics A statement to clarify and guide the ethical conduct of genetic counselors.
Policy and Legislation Database (NHGRI) Searchable database of federal and state laws/statutes, federal legislative materials, and federal administrative and executive materials about privacy of genetic information/confidentiality; informed consent; insurance and employment discrimination; genetic testing and counseling; and commercialization and patenting.
THOMAS Legislative Information (The Library of Congress) Searchable database of U.S. legislation (current and previous Congresses).
Your Genes, Your Choices: Exploring the Issues Raised by Genetic Research Description of the Human Genome Project, the science behind it, and the ethical, legal, and social issues raised by the project.

Table 5. Family History Tools
Resource Description 
Family Health History (Genetic Alliance) Tips for collecting family history information and links to resources.
Family History Public Health Initiative (Centers for Disease Control and Prevention) Web site devoted to using family history to promote health.
Family Medical History (American Medical Association) Tools for gathering family history and links to resources.
My Family Health Portrait (U.S. Surgeon General) Web-based family history tool.
Your Family History (National Society of Genetic Counselors) Information on collecting a family health history.

Table 6. Genome Research Information
Resource Description 
BLAST = Basic Local Alignment Search Tool; COSMIC = Catalogue Of Somatic Mutations In Cancer; iHOP = information hyperlinked over proteins; SARS = severe acute respiratory syndrome; SNPs = single nucleotide polymorphisms; UCSC = University of California, Santa Cruz.
BLAST Search (part of the Ensembl Project; see below) Search protein or DNA sequence against metazoan genomes.
The Cancer Genome Anatomy Project (CGAP) Access to all CGAP data and biological resources.
CancerGenes Combines gene lists annotated by experts with information from key public databases such as Entrez Gene, COSMIC, and iHOP.
Cancer Genome Workbench (CGWB) Integrates clinical tumor mutation profiles with the reference human genome to improve the accuracy of mutation identification.
Chromosomal Variation in Man Searchable database of literature citations on chromosomal variants and anomalies.
Ensembl (Joint software project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute) Data sets resulting from an automated genome analysis and annotation process.
Genome Channel Java viewers for human genome data.
Genome Sequencing Center: Homo sapiens Maps Links to clone and accession maps of the human genome.
International Cancer Genome Consortium Data Portal A collection of genome data from more than 25 cancer projects consisting of over 3,500 tumor genomes from 13 cancer types and subtypes. Most data are available with open access.
International HapMap Project A variety of ways to query for SNPs in the human genome.
Leiden Open Variation Database A flexible, free tool for gene-centered collection, curation, and display of DNA variation.
KMcancerDB Human gene mutation database with graphical display of molecular information for cancer-related genes.
National Center for Biotechnology Information: Genomic Biology Views of chromosomes, maps, and loci; links to other NCBI resources.
Online Mendelian Inheritance in Man (OMIM) Catalog of human genes and genetic disorders.
UCSC Genome Bioinformatics Reference sequence for the human and C. elegans genomes and working drafts for the mouse, rat, Fugu, Drosophila, C. briggsae, yeast, and SARS genomes.

Table 7. Health Professional Practice and Genetic Education Information
Resource Description 
Centre for Education in Medical Genetics Develops, provides, and evaluates genetics education opportunities and resources.
Centre for Genetics Education Education and service resources for patients and professionals.
Dolan DNA Learning Center Interactive multimedia genetics education resources.
Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2nd edition Establishes minimum basis to prepare the nursing workforce to deliver competent genetic and genomic-focused nursing care.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Provides an evidence-based review of genetic tests and other genomic applications that are in transition from research to clinical and public health practice in the United States.
Genetics & Your Practice Online modules for health care professionals designed for exploration of a topic rather than a sequential presentation of material. Includes fact sheets and sample clinical forms. Free registration required for access
Genetics and Social Science: Expanding Translational Research A free, online education program designed to provide social and behavioral scientists with sufficient genetics background to support the integration of genetics concepts in their own research and allow for collaborative studies with geneticists.
Genetics Education Center Online center for educators interested in human genetics and the Human Genome Project.
Genetics Education Program for Nurses (GEPN) Sample genetics nursing course syllabi and other genetics educational opportunities and resources for nurses.
Genetics/Genomics Competency Center for Education (G2C2) A repository of genetics/genomics education resources for nursing and physician assistant educators.
Genetics in Clinical Practice: A Team Approach Interactive virtual genetics clinic with case scenarios and case discussions. Target audience is primary care professionals.
Genetics in Primary Care Training program curriculum materials.
Genomic Applications in Practice and Prevention Network (GAPPNet) A collaborative initiative that aims to bring together stakeholders in order to accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications, such as genetic tests, technologies, and family history, into clinical and public health practice.
Medical School Core Curriculum in Genetics Medical school course competencies, skills, knowledge, and behaviors that should be covered in a genetics curriculum developed by the Association of Professors of Human and Medical Genetics and the American Society of Human Genetics.
National Coalition for Health Professional Education in Genetics (NCHPEG) Core competencies in genetics and reviews of education programs. Descriptions of available instructional resources, courses, and institutes.
Six Weeks to Genomic Awareness Webcast of six lessons in genomics for public health professionals.

Table 8. Institutional Review Boards (IRBs)
Resource Description 
Genetic Testing and Screening in the Age of Genomic Medicine. New York State Task Force on Life and the Law. Includes general and state-specific information in a bulleted report.
Pharmacogenetics: Ethical Issues. Nuffield Council on Bioethics. Includes a section discussing the use of pharmacogenetics in clinical trials.
Protecting Human Research Subjects Institutional Review Board Guidebook, Chapter V, Section H: Human Genetic Research. Office for Human Research Protections. Discusses many issues that continue to challenge IRBs, investigators, and policy makers today.

Table 9. Professional Organizations: Genetics
Resource Description 
American Board of Genetic Counseling (ABGC) Information about certification of genetic counselors.
American Board of Medical Genetics (ABMG) Information about medical genetic training programs and certification of geneticists.
American College of Medical Genetics (ACMG) Resources, policy statements, and practice guidelines about medical genetics.
American Society for Human Genetics (ASHG) Resources, projects, and policies concerning human genetics.
Genetics Nursing Credentialing Commission (GNCC) Information about credentialing of genetics nurses.
Genetics Society of America (GSA) Links to teaching Web sites, general educational courses, and journals and publications about genetics.
International Society of Nurses in Genetics (ISONG) Resources to help nurses incorporate new knowledge about human genetics into practice, education, and research.
National Society of Genetic Counselors (NSGC) Information about genetic counseling: practice guidelines, links to genetic counselors, and genetic discrimination resources.

Table 10. Risk Assessment Information
Resource Description 
Breast Cancer Risk Assessment Tool (National Cancer Institute [NCI]) Interactive tool for estimating a woman's risk of developing invasive breast cancer.
Colorectal Cancer Risk Assessment Tool (NCI) Interactive tool for estimating the risk of developing colorectal cancer in a non-Hispanic white man or woman aged 50 to 85 years.
Disease Risk Index (Harvard School of Public Health) Personalized estimation of cancer risk and tips for prevention.
Family HealthLink (The Ohio State University Medical Center) Interactive tool that estimates cancer risk by reviewing patterns of cancer in a family.
Melanoma Risk Assessment Tool (NCI) Interactive tool for estimating an individual’s absolute risk of developing melanoma.
MyGenerations Interactive tool that estimates cancer risk by reviewing patterns of cancer in a family.

Table 11. Online Gene Mutation Prediction Programs
Resource Description 
HuGE = Human Genome Epidemiology; MMR = mismatch repair; MRC = Medical Research Council.
HuGE Risk Translator Calculates the predictive value of genetic markers.
MRC Human Genetics Unit, Edinburgh Predicts the likelihood of mutations in one of the MMR genes in persons with colon cancer.
The Penn II Risk Model Estimates the probability that an individual has a BRCA1 or BRCA2 mutation.
PREMM1,2,6 Model: Prediction Model for MLH1, MSH2, and MSH6 Gene Mutations Estimates the probability that an individual carries a mutation in one of the MMR genes.

Table 12. Search Engines Specializing in Genetics and Genomics
Resource Description 
GAMAdb = Genome-wide Association and Meta Analyses Database; GWAS = genome-wide association studies; HuGE = Human Genome Epidemiology; SNP = single nucleotide polymorphism.
Cancer GAMAdb An online database of published GWAS and meta-analyses for genetic polymorphisms and cancer risk.[1]
Catalog of Published Genome-Wide Association Studies An online catalog of SNP-trait associations from published GWAS for use in investigating genomic characteristics of trait/disease-associated SNPs.
HuGE Navigator An integrated, searchable knowledge base of genetic associations and human genome epidemiology.
National Information Resource on Ethics and Human Genetics (Georgetown University) Search engine for literature on specific issues related to ethics and human genetics.

Table 13. United States Government Agencies
Resource Description 
HRSA = Health Resources and Services Administration; NIH = National Institutes of Health.
Centers for Disease Control and Prevention Office of Public Health Genomics Information on how human genomic discoveries can be used to improve health and prevent disease, including links to many resources.
Genetic Modification Clinical Research Information System (GeMCRIS) Information about human gene transfer trials registered with NIH.
National Cancer Institute Summaries of cancer genetics–related information.
National Human Genome Research Institute Research, policy, ethics, education, and training information and resources about genetic and rare diseases.
National Institute of Environmental Health Sciences (NIEHS) Environmental Genome Project Information on project to improve understanding of human genetic susceptibility to environmental exposures.
U.S. Department of Energy Office of Science Genomics educational resources.
U.S. Department of Health and Human Services Links to publications and materials available for purchase or download from the HRSA Information Center.


  1. Schully SD, Yu W, McCallum V, et al.: Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies. Eur J Hum Genet 19 (8): 928-30, 2011.  [PUBMED Abstract]