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Cancer Genetics

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General Cancer Genetics Information

  • Genetic Testing for Hereditary Cancer Syndromes
    A fact sheet about genetic testing for inherited cancer risk, including types of tests, who should consider testing, how to understand test results, and who has access to a person’s test results. Also contains information about at-home or direct-to-consumer genetic tests.
  • Understanding Gene Testing
    Illustrates what genes are, explains how mutations occur and are identified within genes, and discusses the benefits and limitations of gene testing for cancer and other disorders.
  • Genetics Home Reference: Guide to Understanding Genetic Conditions
    Web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.
  • My Family Health Portrait
    Web site for consumers to organize family history information that can be saved to computer and shared, in print or electronic form, with family members and family doctors.
  • Cancer Genetics Overview (PDQ®)
    [ health professional ]
    Expert-reviewed information summary in which the features of hereditary cancer and the structure and content of other PDQ cancer genetics summaries are described. The summary also contains an extensive list of genetics resources available online.
  • Cancer Genetics Risk Assessment and Counseling (PDQ®)
    [ health professional ]
    Expert-reviewed information summary in which cancer risk perception, risk communication, and risk counseling are discussed. The summary also contains information about recording and analyzing a family history of cancer and factors to consider when offering genetic testing.

Genetics Glossaries

  • NCI Dictionary of Genetics Terms
    A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.
  • NHGRI Talking Glossary of Genetic Terms
    A dictionary of genetics terms written for people who do not have a scientific background. Each term includes the pronunciation, audio information, images and additional links to related terms.

Find Cancer Genetics Professionals

Specific Cancers

  • Genetics of Breast and Ovarian Cancer (PDQ®)
    [ health professional ]
    Expert-reviewed information summary about the genetics of breast and ovarian cancer, including information about specific genes and family cancer syndromes. The summary also contains information about interventions that may influence the risk of developing breast and ovarian cancer in individuals who may be genetically susceptible to these diseases. Psychosocial issues associated with genetic testing are also discussed.
  • BRCA1 and BRCA2: Cancer Risk and Genetic Testing
    A fact sheet about the BRCA1 and BRCA2 genes, how BRCA1 and BRCA2 gene mutations (changes) affect a person's risk of cancer, genetic testing for cancer risk, interpreting test results, and the benefits and risks of genetic testing.
  • Breast Cancer Risk Assessment Tool
    An interactive tool to help estimate a woman's risk of developing breast cancer.
  • Genetics of Colorectal Cancer (PDQ®)
    [ health professional ]
    Expert-reviewed information summary about the genetics of colorectal cancer, including information about specific genes and family cancer syndromes. The summary also contains information about screening for colorectal cancer and research aimed at prevention of this disease. Psychosocial issues associated with genetic testing and counseling of individuals who may have hereditary colorectal cancer syndrome are also discussed.
  • Colorectal Cancer Risk Assessment Tool
    An interactive tool to help estimate a person's risk of developing colorectal cancer.
  • Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)
    [ health professional ]
    Expert-reviewed information summary about the genetics of endocrine and neuroendocrine neoplasias. This summary contains information about the MEN1 gene, the RET gene, genetic testing, and clinical interventions. Psychosocial issues associated with genetic testing and counseling of individuals who may have a hereditary medullary thyroid cancer syndrome are also discussed.
  • Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®)
    [ health professional ]
    Expert-reviewed information summary about the genetics of kidney cancer, including information about specific genes and family cancer syndromes. The summary also contains information about screening for kidney cancer and research aimed at prevention of this disease.
  • Genetics of Prostate Cancer (PDQ®)
    [ health professional ]
    Expert-reviewed information summary about the genetics of prostate cancer, including information about specific genes and family cancer syndromes. The summary also contains information about screening for prostate cancer and research aimed at prevention of this disease. Psychosocial issues associated with genetic testing and counseling of individuals who may have hereditary prostate cancer syndrome are also discussed.
  • Genetics of Skin Cancer (PDQ®)
    [ health professional ]
    Expert-reviewed information summary about the genetics of skin cancer — basal cell carcinoma, squamous cell carcinoma, and melanoma — including information about specific gene mutations and related cancer syndromes. The summary also contains information about interventions that may influence the risk of developing skin cancer in individuals who may be genetically susceptible to these syndromes.
  • Melanoma Risk Assessment Tool
    An interactive tool to help estimate a person's risk of developing invasive melanoma.

Cancer Genetics Research Resources and Information

  • Breast and Colon Cancer Family Registries
    Two international family registries on breast and colon cancers offer concerned individuals the opportunity to participate in research, and investigators opportunities to conduct valuable research.
  • Cancer Genetics Network
    A national network of centers specializing in the study of inherited predisposition to cancer.
  • The Cancer Genome Atlas (TCGA)
    TCGA is a National Cancer Institute/National Human Genome Research Institute initiative aimed at accelerating our understanding of the molecular basis of cancer through the application of genome analysis technologies, including large-scale genome sequencing.
  • Cancer Genome Anatomy Project (CGAP)
    CGAP sought to determine the gene expression profiles of normal, precancer, and cancer cells, leading eventually to improved detection, diagnosis, and treatment for the patient.
  • Human Genetics Program
    This NCI program was established to provide an expanded focus for interdisciplinary research into the genetic determinants of human cancer.
  • Cancer Genetic Markers of Susceptibility
    A research program involving genome-wide association studies (GWASs) for a number of cancers to identify common genetic variants that affect a person's risk of developing cancer.
  • National Human Genome Research Institute
    NHGRI's mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease.
  • Online Mendelian Inheritance in Man
    This database of human genes and genetic disorders is provided by the National Center for Biotechnology Information, a division of the National Library of Medicine at the National Institutes of Health.
  • My Cancer Genome
    This web-based information tool is designed to educate clinicians on the rapidly expanding list of genetic mutations that impact different cancers and enable them to more easily research various treatment options based on specific mutations.