Limitations in DNA sequencing technology make it difficult to detect some major mutations often linked to cancer, such as the loss or duplication of parts of chromosomes. Now, methods developed by ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...

Leading cancer expert solve long-standing question of how various types of mutations in just one gene cause different types of diseases. Leading cancer experts at the University of Birmingham have ...

Bottom line: A new mutation was identified in 9 percent of relapsed cases of pediatric acute myeloid leukemia (AML) that may define a new subtype of the disease. While the researchers identified the ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...