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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.
… for genomic variants in 73 genes, including BRCA1 and BRCA2 , both of which are linked to an increased risk of …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… available for them? For some genes, such as BRCA1 and BRCA2, scientists have strong evidence that mutations …
Clinical Research
A study for patients with unexpected genetic results
… ENG MSH2 PRKAG2 SMAD4 TTN BRCA1 FBN1 MSH6 PTEN STK11 TTR BRCA2 FLNC MUTYH RB1 TGFBR1 VHL BTD GAA MYBPC3 RBM20 TGFBR2 …
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.
… with Sudden Death What We’re Missing: Most BRCA1 and BRCA2 Variant Carriers Are Undetected Cascade Screening for …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… was one of the first labs to describe a role for BRCA1 and BRCA2 mutations in women drawn from the general population, … the first to describe the somatic mutational landscape of BRCA2-associated aggressive prostate tumors, defining a … J, Stanford JL, Ostrander EA. Germline mutations in the BRCA2 gene and susceptibility to hereditary prostate 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 …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… higher than the general population (e.g., BRCA1 / BRCA2 ). Individuals in the high-risk category may benefit …
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. ​
… creen que las mutaciones en los genes BRCA1 y BRCA2 causan un porcentaje tan grande como el 60 por ciento … contiene una mutación en genes como el BRCA1 y el BRCA2 . El chip consiste en una pequeña placa de vidrio …
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.
… findings can include those related to the BRCA1 and BRCA2 genes, which are associated with breast and ovarian …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… H., Borgen, P., Brown, K., Skolnick, M., et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected …