Cancer Genetics Overview - National Cancer Institute

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 ¹; and through the Gene Tests-Gene Clinics ²Web 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. Please see the Table of Links at the end of this summary in printable view for the Genetic Resources URLs.

Clinical Genetics

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Resource	Description
GeneTests ⁴	Information for health professionals about hundreds of genetic tests and the laboratories performing those tests.
Human Genome Epidemiology Network (HuGENet) ⁵	Network for sharing population-based human genome epidemiologic information.
INFOGENETICS ⁶	Clinical practice tools.
Online Mendelian Inheritance in Man (OMIM)	Catalog of human genes and genetic disorders.

Consumer/Client: General Information

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Resource	Description
The DNA Files ⁸	Series of 14 1-hour public radio documentaries and related information.
Dolan DNA Learning Center Gene Almanac ⁹	Variety of educational resources, including an interactive DNA timeline.
FORCE: Facing Our Risk of Cancer Empowered ¹⁰	Provides support and information to individuals and families affected by hereditary breast and ovarian cancer through a toll-free help line, message boards, chat, and support groups.
Genetics Education Center ¹¹	Material for educators.
Genetics Home Reference—National Library of Medicine ¹²	Consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
Genetic and Rare Diseases Information Center ¹³	Information service for the general public, including patients and their families as well as health care professionals and biomedical researchers.
Genetic Science Learning Center ¹⁴	Basic genetics, genetic disorders, genetics in society, and several thematic units.
The Human Genome Project: Exploring Our Molecular Selves ¹⁵	Downloadable modules or online viewing of The Human Genome Project, including milestones, a talking glossary, classroom activities, and a 3-D computer-animated video on basic molecular biology.
National Cancer Institute: Cancer Genetics Services Directory ¹	Directory lists professionals who provide cancer genetics services (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others).
National Cancer Institute: Dictionary of Genetics Terms ¹⁶	Contains definitions for more than 100 terms related to genetics.
The New Genetics: A Resource for Students and Teachers ¹⁷	Links to genetics education resources.
Understanding Cancer Series: Gene Testing (from the National Cancer Institute) ¹⁸	Primer on genetic testing.

Ethical, Legal and Social Implications (ELSI), Policy, and Legislation

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Resource	Description
bioethics.net ²⁰	Links to articles on genetics and bioethics.
Bioethics Resources on the Web ²¹	Links to bioethics resources.
Coalition for Genetic Fairness ²²	Describes GINA’s protections including a history of the legislation, key examples, and definitions.
DNA Patent Database ²³	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 (from the Human Genome Project) ²⁴	Information, articles, and links on a wide range of issues.
Genethics.ca ²⁵	Information on the social, ethical, and policy issues associated with genetic and genomic knowledge and technology.
Genetics and Public Policy Center ²⁶	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 ²⁷	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 ²⁸	Comprehensive international database on the legal, social, and ethical aspects of human genetics.
NCSL (National Conference of State Legislatures) Genetic Technologies Project ²⁹	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 ³⁰	Links to resources and databases on ethics and human genetics.
National Information Resource on Ethics and Human Genetics: Annotated Bibliographies: Scope Note Series ³¹	Annotated bibliographies on various genetics and ethics issues.
National Human Genome Research Institute (NHGRI) Policy and Legislation Database ³²	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.
National Society of Genetic Counselors (NSGC) Code of Ethics ³³	A statement to clarify and guide the ethical conduct of genetic counselors.
The President's Council on Bioethics ³⁴	Reports, transcripts, and background material on current bioethical issues.
THOMAS Legislative Information (from Library of Congress) ³⁵	Searchable database of U.S. legislation (current and previous Congresses).
Your Genes, Your Choices ³⁶	Description of the Human Genome Project, the science behind it, and the ethical, legal, and social issues raised by the project.

Family History Tools

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Resource	Description
American Medical Association: Family History Tools ³⁸	Tools for gathering family history and links to resources.
Family History: Resources and Tools ³⁹	CDC’s Web site devoted to using family history to promote health.
National Society of Genetic Counselors: Your Family History—Your Future ⁴⁰	Information on collecting a family health history.
U.S. Surgeon General’s Family History Initiative: My Family Health Portrait ⁴¹	Web-based family history tool, created by the office of the U.S. Surgeon General.

Genome Research

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Resource	Description
BLAST Search (part of the Ensembl Project; see below) ⁴³	Search protein or DNA sequence against metazoan genomes.
The Cancer Genome Anatomy Project (CGAP) ⁴⁴	Access to all CGAP data and biological resources.
CancerGenes ⁴⁵	Combines gene lists annotated by experts with information from key public databases such as Entrez Gene, COSMIC, and iHOP.
Cancer Genome Workbench (CGWB) ⁴⁶	Integrates clinical tumor mutation profiles with the reference human genome to improve the accuracy of mutation identification.
Chromosomal Variation in Man ⁴⁷	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) ⁴⁸	Data sets resulting from an automated genome analysis and annotation process.
Genome Channel ⁴⁹	Java viewers for human genome data.
Genome Sequencing Center: Homo sapiens Maps ⁵⁰	Links to clone and accession maps of the human genome.
KMcancerDB ⁵¹	Human gene mutation database with graphical display of molecular information for cancer-related genes.
National Center for Biotechnology Information: Genomic Biology ⁵²	Views of chromosomes, maps, and loci; links to other NCBI resources.
Online Mendelian Inheritance in Man (OMIM)	Catalog of human genes and genetic disorders.
International HapMap Project ⁵³	A variety of ways to query for SNPs in the human genome.
UCSC Genome Bioinformatics ⁵⁴	Reference sequence for the human and C. elegans genomes and working drafts for the mouse, rat, Fugu, Drosophila, C. briggsae, yeast, and SARS genomes.

Health Professional Practice and Education

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Resource	Description
Centre for Education in Medical Genetics ⁵⁶	Develops, provides, and evaluates genetics education opportunities and resources.
Centre for Genetics Education ⁵⁷	Education and service resources for patients and professionals.
Dolan DNA Learning Center Gene Almanac ⁹	Interactive multimedia genetics education resources.
Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics ⁵⁸	Establishes minimum basis to prepare the nursing workforce to deliver competent genetic and genomic-focused nursing care. Created by consensus panel in 2005.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) ⁵⁹	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.
GenEd Project ⁶⁰	Information about the project, news, and links to previously published research on European aspects of genetic services.
Genetics in Clinical Practice: A Team Approach ⁶¹	Interactive virtual genetics clinic with case scenarios and case discussions. Target audience is primary care professionals.
Genetics Education Center ¹¹	For educators interested in human genetics and the Human Genome Project.
Genetics Education Program for Nurses (GEPN) ⁶²	Sample genetics nursing course syllabi and other genetics educational opportunities and resources for nurses.
Genetics in Primary Care ⁶³	Training program curriculum materials.
Genetics in Psychology ⁶⁴	American Psychological Association's genetics site.
Genetics and Your Practice ⁶⁵	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.
Medical School Core Curriculum in Genetics ⁶⁶	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) ⁶⁷	Core competencies in genetics ⁶⁸ and reviews of education programs. Descriptions of available instructional resources, courses, and institutes.
Six Weeks to Genomic Awareness ⁶⁹	Webcast of six lessons in genomics for public health professionals.

Institutional Review Boards (IRBs)

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Resource	Description
Genetic Testing and Screening in the Age of Genomic Medicine. New York State Task Force on Life and the Law. ⁷¹	Includes general and state-specific information in a bulleted report.
Pharmacogenetics: Ethical Issues. Nuffield Council on Bioethics. ⁷²	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. ⁷³	Discusses many issues that continue to challenge IRBs investigators, and policy makers today.

Professional Organizations: Genetics

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Resource	Description
American Board of Genetic Counseling (ABGC) ⁷⁵	Information about certification of genetic counselors.
American Board of Medical Genetics (ABMG) ⁷⁶	Information about medical genetic training programs and certification of geneticists.
American College of Medical Genetics (ACMG) ⁷⁷	Resources, policy statements, and practice guidelines about medical genetics.
American Society for Human Genetics (ASHG) ⁷⁸	Resources, projects, and policies concerning human genetics.
Genetics Nursing Credentialing Commission (GNCC) ⁷⁹	Information about credentialing of genetics nurses.
Genetics Society of America (GSA) ⁸⁰	Links to teaching Web sites, general educational courses, and journals and publications about genetics.
International Society of Nurses in Genetics (ISONG) ⁸¹	Resources to help nurses incorporate new knowledge about human genetics into practice, education, and research.
National Society of Genetic Counselors (NSGC) ⁸²	Information about genetic counseling: practice guidelines, links to genetic counselors, and genetic discrimination resources.

Risk Assessment

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Resource	Description
Harvard Center for Cancer Prevention: Your Disease Risk ⁸⁴	Personalized estimation of cancer risk and tips for prevention.
JamesLink: Personalized Cancer Risk Assessment ⁸⁵	Interactive tool that estimates cancer risk by reviewing patterns of cancer in a family.
My Generations ⁸⁶	Interactive tool that estimates cancer risk by reviewing patterns of cancer in a family.
National Cancer Institute: Breast Cancer Risk Assessment Tool ⁸⁷	Interactive tool for estimating a woman's risk of developing invasive breast cancer.
National Cancer Institute: Colorectal Cancer Risk Assessment Tool ⁸⁸	Interactive tool for estimating the risk of developing colorectal cancer in a 50- to 85- year old non-Hispanic white man or woman.
National Cancer Institute: Melanoma Risk Assessment Tool ⁸⁹	Interactive tool for estimating an individual’s absolute risk of developing melanoma.

Online Gene Mutation Prediction Programs

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Resource	Description
HuGE Risk Translator ⁹¹	Calculates the predictive value of genetic markers.
MRC Human Genetics Unit, Edinburgh ⁹²	Predicts the likelihood of mutations in one of the mismatch repair genes in persons with colon cancer.
The Penn II Risk Model ⁹³	Estimates the probability that an individual has a BRCA1 or BRCA2 mutation.
PREMM1,2 Model: Prediction Model for MLH1 and MSH2 Gene Mutations ⁹⁴	Estimates the probability that an individual carries a mutation in one of the mismatch repair genes.

Search Engines Specializing in Genetics and Genomics

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Resource	Description
Genetics Resources on the Web (GROW) ⁹⁶	Information related to human genetics, with a particular focus on genetic medicine and health.
Georgetown University: National Information Resource on Ethics and Human Genetics ⁹⁷	Search engine for literature on specific issues related to ethics and human genetics.
HuGE Navigator ⁹⁸	An integrated, searchable knowledge base of genetic associations and human genome epidemiology.

United States Government Agencies

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Resource	Description
Centers for Disease Control and Prevention: National Office of Public Health Genomics ¹⁰⁰	Information on how human genomic discoveries can be used to improve health and prevent disease, including links to many resources.
Department of Energy Office of Science: genomics.energy.gov ¹⁰¹	Genomics educational resources.
Department of Health and Human Services ¹⁰²	Links to publications and materials available for purchase or download from the HRSA Information Center.
Genetic Modification Clinical Research Information System (GeMCRIS) ¹⁰³	Information about human gene transfer trials registered with NIH.
National Cancer Institute ¹⁰⁴	NCI’s summaries of cancer genetics–related information.
National Human Genome Research Institute ¹⁰⁵	Research, policy, ethics, education, and training information and resources about genetic and rare diseases.
National Institute of Environmental Health Sciences (NIEHS): Environmental Genome Project ¹⁰⁶	Information on project to improve understanding of human genetic susceptibility to environmental exposures.

Glossary Terms

chromosome (KROH-muh-some)

Discrete physical structures inside a cell nucleus that consist of proteins and DNA organized into genes.

clone

An identical copy of a DNA sequence or entire gene; one or more cells derived from and identical to a single ancestor cell OR to isolate a gene or specific sequence of DNA.

DNA

The molecular basis of heredity; encodes the genetic information responsible for the development and function of an organism and allows for transmission of that genetic information from one generation to the next. The DNA molecule is structured as a double-stranded helix held together by weak hydrogen bonds between purine-pyrimidine nucleotide base pairs: adenine (A) paired with thymine (T), and guanine (G) paired with cytosine (C). Also called deoxyribonucleic acid.

family history (FAM-ih-lee HIH-stuh-ree)

The genetic relationships within a family combined with the medical history of individual family members. When represented in diagram form using standardized symbols and terminology, it is usually referred to as a pedigree or family tree. Also called family medical history.

gene

The basic unit of heredity that occupies a specific location on a chromosome. Each consists of nucleotides arranged in a linear manner. Most genes code for a specific protein or segment of protein leading to a particular characteristic or function.

genetic counseling (jeh-NEH-tik KOWN-suh-ling)

A communication process that seeks to assist affected or at-risk individuals and families in understanding the natural history, disease risks, and mode of transmission of a genetic disorder; to facilitate informed consent for genetic testing when appropriate; to discuss options for risk management and family planning; and to provide for or refer individuals for psychosocial support as needed. The National Society of Genetic Counselors Task Force has also defined the term genetic counseling.

genetic susceptibility (jeh-NEH-tik suh-SEP-tih-BIH-lih-tee)

Increased likelihood or chance of developing a particular disease due to the presence of one or more gene mutations and/or a family history that indicates an increased risk of the disease. Also called genetic predisposition.

mutation (myoo-TAY-shun)

A change in the usual DNA sequence at a particular gene locus. Mutations (including polymorphisms) can be harmful, beneficial, or neutral in their effect on cell function.

pedigree (PEH-dih-gree)

A graphic illustration of family history.

SNP

DNA sequence variations that occur when a single nucleotide (adenine, thymine, cytosine, or guanine) in the genome sequence is altered; usually present in at least 1% of the population; pronounced "snip". Also called single nucleotide polymorphism.

Table of Links

¹ http://www.cancer.gov/search/geneticsservices

² http://www.geneclinics.org

³ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le1

⁴ http://www.genetests.org

⁵ http://www.cdc.gov/genomics/hugenet/default.htm

⁶ http://www.infogenetics.org

⁷ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le2

⁸ http://www.dnafiles.org

⁹ http://www.dnalc.org/home.html

¹⁰ http://www.facingourrisk.org

¹¹ http://www.kumc.edu/gec

¹² http://ghr.nlm.nih.gov

¹³ http://www.genome.gov/10000409

¹⁴ http://learn.genetics.utah.edu

¹⁵ http://www.genome.gov/Pages/EducationKit

¹⁶ http://www.cancer.gov/cancertopics/genetics-terms-alphalist

¹⁷ http://www4.umdnj.edu/camlbweb/teachgen.html

¹⁸ http://www.cancer.gov/cancertopics/UnderstandingCancer/genetesting

¹⁹ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le3

²⁰ http://www.bioethics.net/articles.php?viewCat=6

²¹ http://bioethics.od.nih.gov

²² http://www.geneticfairness.org/ginaresource.html

²³ http://dnapatents.georgetown.edu

²⁴ http://www.ornl.gov/hgmis/elsi/elsi.html

²⁵ http://www.genethics.ca

²⁶ Http://www.dnapolicy.org

²⁷ http://www.sph.umich.edu/genpolicy

²⁸ http://www.humgen.umontreal.ca/int

²⁹ http://www.ncsl.org/programs/health/genetics.htm

³⁰ http://www11.georgetown.edu/research/nrcbl/nirehg

³¹ http://www11.georgetown.edu/research/nrcbl/nirehg/quickbibsgen.htm

³² http://www.genome.gov/PolicyEthics/LegDatabase/pubsearch.cfm

³³ http://www.nsgc.org/about/codeEthics.cfm

³⁴ http://www.bioethics.gov

³⁵ http://thomas.loc.gov

³⁶ http://ehrweb.aaas.org/ehr/books/index.html

³⁷ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le4

³⁸ http://www.ama-assn.org/ama/pub/category/2380.html

³⁹ http://www.cdc.gov/genomics/public/famhist.htm

⁴⁰ http://www.nsgc.org/consumer/familytree/index.cfm

⁴¹ http://www.hhs.gov/familyhistory

⁴² http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le5

⁴³ http://www.ensembl.org/Homo_sapiens/blastview

⁴⁴ http://cgap.nci.nih.gov

⁴⁵ http://cbio.mskcc.org/cancergenes

⁴⁶ http://cgwb.nci.nih.gov/cgi-bin/hgGateway?org=Human&db=hg18&

⁴⁷ http://www.wiley.com/legacy/products/subject/life/borgaonkar

⁴⁸ http://www.ensembl.org

⁴⁹ http://compbio.ornl.gov/channel

⁵⁰ http://genome.wustl.edu/genome.cgi?GENOME=Homo%20sapiens

⁵¹ http://mutview.dmb.med.keio.ac.jp/MutationView/jsp/index.jsp

⁵² http://www.ncbi.nlm.nih.gov/Genomes

⁵³ http://snp.cshl.org

⁵⁴ http://genome.cse.ucsc.edu

⁵⁵ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le6

⁵⁶ http://www.bwhct.nhs.uk/genetics-cemg-home.htm

⁵⁷ http://www.genetics.com.au

⁵⁸ http://www.genome.gov/Pages/Careers/HealthProfessionalEducation/geneticscompete
ncy.pdf

⁵⁹ http://www.egappreviews.org

⁶⁰ http://www.medicine.manchester.ac.uk/gened

⁶¹ http://iml.dartmouth.edu/education/cme/Genetics

⁶² http://www.cincinnatichildrens.org/ed/clinical/gpnf/default.htm

⁶³ http://genes-r-us.uthscsa.edu/resources/genetics/primary_care.htm

⁶⁴ http://www.apa.org/science/genetics/homepage.html

⁶⁵ http://www.marchofdimes.com/gyponline/index.bm2

⁶⁶ http://www.meddean.luc.edu/lumen/MedEd/genetics/core_curric.htm

⁶⁷ http://www.nchpeg.org

⁶⁸ http://www.nchpeg.org/core/Core_Comps_English_2007.pdf

⁶⁹ http://www.cdc.gov/genomics/training/sixwks.htm

⁷⁰ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le7

⁷¹ http://www.health.state.ny.us/nysdoh/taskfce/screening.htm

⁷² http://www.nuffieldbioethics.org/go/ourwork/pharmacogenetics/publication_314.ht
ml

⁷³ http://www.hhs.gov/ohrp/irb/irb_chapter5ii.htm#h12

⁷⁴ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le8

⁷⁵ http://www.abgc.net/English/view.asp?x=1

⁷⁶ http://genetics.faseb.org/genetics/abmg/abmgmenu.htm

⁷⁷ http://www.acmg.net

⁷⁸ http://www.ashg.org/genetics/ashg/ashgmenu.htm

⁷⁹ http://www.geneticnurse.org

⁸⁰ http://www.genetics-gsa.org

⁸¹ http://www.isong.org

⁸² http://www.nsgc.org

⁸³ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le9

⁸⁴ http://www.yourdiseaserisk.harvard.edu

⁸⁵ http://jamesline.com/patientsandvisitors/prevention/cancergenetics

⁸⁶ http://enh.org/clinicalservices/medicalgenetics/mygenerations

⁸⁷ http://www.cancer.gov/bcrisktool/Default.aspx

⁸⁸ http://www.cancer.gov/colorectalcancerrisk/colorectal-cancer-risk.aspx

⁸⁹ http://www.cancer.gov/melanomarisktool

⁹⁰ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le10

⁹¹ http://hugenavigator.net/HuGENavigator/checkerComplexStartPage.do

⁹² http://www1.hgu.mrc.ac.uk/Softdata/MMRpredict.php

⁹³ https://www.afcri.upenn.edu:8022/itacc/penn2/index.asp

⁹⁴ http://www.dana-farber.org/pat/cancer/gastrointestinal/crc-calculator

⁹⁵ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le11

⁹⁶ http://www.geneticsresources.org

⁹⁷ http://bioethics.georgetown.edu

⁹⁸ http://hugenavigator.net

⁹⁹ http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/Tab
le12

¹⁰⁰ http://www.cdc.gov/genomics/default.htm

¹⁰¹ http://genomics.energy.gov

¹⁰² http://ask.hrsa.gov/ProfessionalPublications.cfm?start=72

¹⁰³ http://www.gemcris.od.nih.gov

¹⁰⁴ http://www.cancer.gov/cancertopics/pdq/genetics

¹⁰⁵ http://www.genome.gov

¹⁰⁶ http://www.niehs.nih.gov/research/supported/programs/egp