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Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… Genetics. Today, my classmates and I learn how to use BRCA1/2 risk assessment models. We begin class by each …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… a potentially actionable result (e.g., a test detects a BRCA1 pathogenic variant), these results need to be confirmed … also detect pathogenic variants in high-risk genes, like BRCA1 and BRCA2, that more definitively predict an increased … examples  A DTC-GT report shows a pathogenic variant in BRCA1 associated with hereditary breast and ovarian syndrome …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… S., Skolnick, M., Norton, L., and Goldgar, D. Germline BRCA1 185delAG mutations in Jewish women affected by breast …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… of the gene responsible for early onset breast cancer ( BRCA1 ), CGU developed resources and aided in the …
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… (SNP) initiative begins First gene for breast cancer ( BRCA1 ) mapped GTGCT GTC CT Bermuda principles for Executive …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… initially on the discovery and functional analysis of the BRCA1 gene. Currently, Dr. Erdos conducts preclinical …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… DM. BACH1, a novel helicase-like protein, interacts with BRCA1 and contributes to its biochemical and clinical …
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… syndrome followed by cascade screening in relatives • BRCA1/2 testing in all ovarian cancer patients and breast …
Policy Issues
En una decisión histórica en junio de 2013, el Tribunal Supremo determinó que el ADN en su forma natural no puede ser patentado.
… la constitucionalidad y validez de las patentes génicas de BRCA1 y BRCA2. Myriad Genetics habÃa sido especialmente … en contra de Myriad Genetics, determinando que los genes BRCA1 y BRCA2 eran productos de la naturaleza y, por ende, no …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… raros. Algunos ejemplos de éstos son los genes BRCA1 y BRCA2 , en los que ciertas mutaciones aumentan el …