Search Results
Policy Issues
In June 2013, the Supreme Court determined that DNA in its natural form cannot be patented.
… suit challenged the constitutionality and validity of the BRCA1 and BRCA2 gene patents. Myriad Genetics had been … plaintiffs  and against Myriad Genetics, finding that the BRCA1 and BRCA2 genes were products of nature and therefore …
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.
… be screened for genomic variants in 73 genes, including BRCA1 and BRCA2 , both of which are linked to an increased …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… approaches available for them? For some genes, such as BRCA1 and BRCA2, scientists have strong evidence that …
Clinical Research
A study for patients with unexpected genetic results
… DSP MLH1 PMS2 SMAD3 TSC2 BMPR1A ENG MSH2 PRKAG2 SMAD4 TTN BRCA1 FBN1 MSH6 PTEN STK11 TTR BRCA2 FLNC MUTYH RB1 TGFBR1 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Associated with Sudden Death What We’re Missing: Most BRCA1 and BRCA2 Variant Carriers Are Undetected Cascade …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… the likelihood of a disease occurring. Women who carry a BRCA1 mutation have a 60-80% absolute risk of breast cancer. …
Talking Glossary
Un gen de susceptibilidad al cáncer es un gen que, cuando cambia (o muta) confiere a la persona un mayor riesgo de desarrollar cáncer.
… mayor que el de la población general (p. ej., BRCA1/BRCA2). En personas de la categorÃa de alto riesgo, más …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… Hers was one of the first labs to describe a role for BRCA1 and BRCA2 mutations in women drawn from the general … JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA. BRCA1 mutations and breast cancer in the general population: … AA, Malone KE, Thompson JD, Daling JR, Ostrander EA. BRCA1 mutations in a population-based sample of young women …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… is significantly higher than the general population (e.g., BRCA1 / BRCA2 ). Individuals in the high-risk category may …
Fact Sheets
La micromatriz de ADN es una herramienta utilizada para determinar si el ADN de un individuo en particular contiene una mutación en genes. ​
… los investigadores creen que las mutaciones en los genes BRCA1 y BRCA2 causan un porcentaje tan grande como el 60 por … más de 800 mutaciones distintas en tan sólo el gen BRCA1 . La micromatriz de ADN es una herramienta utilizada … en particular contiene una mutación en genes como el BRCA1 y el BRCA2 . El chip consiste en una pequeña placa de …