Genetics

Persistent disease-associated mutations detected in the bone marrow 30 days after stem cell transplantation are associated with an increased risk for disease progression among patients with myelodysplastic syndrome, research shows.

The ESMO Translational Research and Precision Medicine Working Group has proposed a classification system that orders the value of molecular aberrations as oncologic clinical targets based on the supporting evidence available.

Most patients being treated in the community setting for advanced nonsquamous non-small-cell lung cancer do not benefit from the use of broad-based genomic sequencing, suggests a study comparing this approach with routine testing for only epidermal growth factor receptor and anaplastic lymphoma kinase alterations.

An analysis of patients with T790M-positive, advanced non-small-cell lung cancer who developed resistance to osimertinib points to heterogeneous underlying molecular mechanisms.

Carriers of the C−509T allele in the transforming growth factor ß 1 gene have a significantly increased risk for late breast fibrosis following breast-conserving surgery and whole-breast irradiation for stage 0 to IIA breast cancer, researchers report.

Testing for BRCA1 and BRCA2 mutations could inform the choice of chemotherapeutic agent in women with advanced triple-negative breast cancer, suggest the results of the TNT trial.

In patients with epidermal growth factor receptor-mutated non-small-cell lung cancer, the presence of concomitant mutations in other cancer-related genes is associated with worse outcomes in response to EGFR tyrosine kinase inhibitors, Chinese research suggests.

The presence of molecular minimal residual disease, identified by next-generation targeted sequencing, is associated with a significantly increased risk for relapse or death in patients with acute myeloid leukemia, study findings indicate.

For individuals who have undergone germline genetic testing, receiving the results via telephone could be a valid alternative to in-person disclosure, trial findings suggest.

BRCA mutation status does not impact survival in young women with breast cancer, results of a large prospective cohort study show.

A polygenic hazard score that evaluates an individual’s age-related risk for developing prostate cancer could help guide personalized decision making about prostate-specific antigen screening, say researchers.

Researchers have warned that underuse of mismatch repair deficiency testing “is a persistent and pervasive problem” in the USA, even among young adults with colorectal cancer where its use is unequivocally recommended.

A high proportion of children and young adults with apparently solitary schwannoma or meningioma have mutations in known constitutional tumor predisposition genes, study data show.

Deleterious germline mutations are common in patients with pancreatic ductal adenocarcinoma who do not have a family history of the disease, research suggests.

Ashkenazi Jewish women with breast cancer may benefit from comprehensive genetic screening for all breast cancer genes, not just founder mutations in BRCA1 or BRCA2, US researchers report.

ProfiLER-01 study data suggest that high-throughput genomic testing can be incorporated into routine practice, but only a subset of patients derive a clinical benefit.

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Patients with gastrointestinal stromal tumors harboring KIT proto-oncogene receptor tyrosine kinase exon 11 deletion mutations derive the greatest benefit from 3 years of adjuvant imatinib treatment, researchers report.

Mutations in the TP53 gene are the strongest independent predictor of reduced survival after allogeneic hematopoietic stem cell transplantation in patients with myelodysplastic syndrome, results of a genetic profiling study show.

The majority of women newly diagnosed with early-stage breast cancer would like to be tested for BRCA1 and BRCA2 mutations, but only a small proportion undergo genetic testing.