“If one of my parents or another close family member has cancer, does that mean I will eventually inherit that diagnosis too? That is a common question and to assist with answering that and many other questions about genetics and cancer, I recommend an excellent resource. Genetics Home Reference (GHR) http://ghr.nlm.nih.gov is a free product created and managed by the U.S. National Library of Medicine (the world’s largest medical library,) Bethesda, MD and is a consumer-friendly online resource to genetic conditions. The user may browse more than 500 genetic conditions, diseases and syndromes. They also may search in Genes by symbol, full name, group or classification in its databank of more than 700 genes. Information about the 23 pairs of chromosomes may be found and for each specific one they provide content to answer such questions as “What is that chromosome and how are changes in it related to health conditions; is there a standard way to diagram that chromosome?” They present a diagram beneath to illustrate. They also provide answers to questions such as “What is DNA; what is a chromosome; what is mitochondrial DNA and can changes in chromosomes affect health and development?”
Other features in GHR include a handbook with sections such as Cells and DNA, How Genes Work, Gene Therapy and many more. The Glossary contains an alphabetical directory of hundreds of definitions related to genetic conditions. In addition they feature a Resource and Patient Support web page that has general interest links to websites including genetics education, Human Genome Project, policy/ethics and health literacy. Health professionals may find links under Resources to the NCI’s PDQ: Cancer Genetics Overview, Gene Tests, Online Mendelian Inheritance in Man (OMIM), PubMed Medical Genetics Searches, and much more. Patients and families may click on links to websites such as Ask the Geneticist and the Genetic Alliance’s Understanding Genetics: A Guide for Patients and Professionals.
If one does a simple search of the alphabetical list under “Conditions” and click on “breast cancer,” they will find a description of the disease, its frequency, specific genes related to the disease such as BRCA1, BRCA2, PTEN, STK11, TP53 and others, with a direct link from each gene symbol to its web page with detailed information. They also provide information on breast cancer inheritance and links for web pages on the diagnosis, management or treatment of breast cancer. A simple search, in the search box at the top, on “cancer,” brings up 695 results including condition summaries, specific genes, definitions, chromosome summaries, and gene summaries all related to cancers. Clicking on the “Genetic Conditions” tab at the top on the home page and then clicking on “Cancers” in their list of diseases by categories, results in a large list of genetic related cancers.
Patients, consumers and health professionals will find this a rich resource for learning about genetic conditions. The National Library of Medicine has a wealth of databases and electronic resources (All Free!) for health professionals and the public: http://www.nlm.nih.gov/databases . For questions about Genetics Home Reference (GHR) or NLM’s other biomedical resources, contact Dana Abbey at 303-724-2110 or firstname.lastname@example.org.