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For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… are also responsible for some rare, inherited types of cancer. Examples of these are the BRCA1 and BRCA2 genes, in … which certain mutations increase the risk for hereditary breast and ovarian cancers (See: Learning About Breast Cancer ), and the FAP gene, in which mutations …
File
… Families Share Disease Worksheet: What is Breast Cancer? …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… health problems, including up to a 95% chance of thyroid cancer and tumors in the thyroid area. While the tumors are … to the BRCA1 and BRCA2 genes, which are associated with breast and ovarian cancer risk, and conditions such as … and told her it put her at an 85% risk of developing breast or ovarian cancer. Morris told her two sisters about …
FAQ
Questions and answers from the September 26, 2022, Multi-Omics for Health and Disease Consortium Pre-Application Webinar.
… both tumor and normal tissues from participants with cancer are strongly encouraged and will be prioritized for … setting this up could take some time. … Biosamples For the cancer DSS, can we propose just plasma collection and no … Collection of tumor samples from participants with cancer is encouraged but it is not a strict requirement. See …
News Release
On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… seeing the profound effect that her project “Mamorial,” a breast cancer initiative that invites breast cancer survivors to make a mold of their affected …
Clinical Research
A study for patients with unexpected genetic results
… unexpected genetic test results about their risk for cancer, heart disease, and other conditions after having … treated or prevented. Many of these results are related to cancer risk and heart conditions . If you think you have … or Spanish Received a genetic testing result related to cancer risk or heart disease even though they were not …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… cause as many as 60 percent of all cases of hereditary breast and ovarian cancers. But there is not one specific … individuals with a particular mutation actually develop breast cancer, or to identify the changes in gene sequences that are …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… providers learning basic genetic and genomic concepts. Cancer: Breast cancer risk assessment in an African American female: Grace Male breast cancer risk analysis in a Caucasian male: Jeff with …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… diseases like Type 2 diabetes, coronary heart disease and breast cancer, which involves calculating a polygenic risk score . … and co-senior author of the paper. "For diseases such as breast cancer and many others, we will be able to responsibly …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… variants that are associated with a heightened risk for breast cancer. Based on the American College of Medical Genetics and … BRCA2 , both of which are linked to an increased risk of breast and ovarian cancer. All 59 genes are associated with …