Founder BRCA1 mutations in Nepalese population.

Background: Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene. The current study reports two founder mutations in the BRCA1 gene in the Nepalese people.

Methods: Germline BRCA testing in all surface epithelial ovarian cancers and the selected case of breast, prostate, and pancreatic cancers has been the standard practice from 2016 to 2021.

All EGFR mutations are (not) created equal: focus on uncommon EGFR mutations.

Purpose: Most common EGFR mutations in NSCLC include del19 and exon 21 L858R. Approximately 10% of patients have uncommon EGFR mutations (indels, missense mutations involving G719, L861 and S768 codons, and exon 20 insertions) that do not respond to TKIs.

Methods: Of 490 EGFR mutated NSCLC samples, 60 cases harboring uncommon/compound EGFR mutations were reviewed retrospectively, and 44 were included for survival analysis.

Machine learning-based algorithm demonstrates differences in del19 and L858R EGFR subgroups in non-small cell lung cancer: a single center experience.

Background: Exon del19 and L858R mutations account for 90% of EGFR mutant non-small cell lung cancer (NSCLC). LUX lung 3 and 6 initially reported a survival difference between these two. However, other studies did not demonstrate the same.

EGFR detection by liquid biopsy: ripe for clinical usage.

With the International Association for the Study of Lung Cancer (IASLC) recommendations promoting liquid biopsy as a primary detection tool, a new era of research has begun. The authors aimed to study the concordance of plasma genotyping platforms against the tissue gold standard. 184 patients with non-small cell lung cancer underwent EGFR genotyping using Cobas, droplet digital polymerase chain reaction (ddPCR) and Therascreen assays from 2019-2020.

T-ALL Minimal Residual Disease Using a Simplified Gating Strategy and Its Clinico-hematologic Correlation: A Single Center Experience from North India.

The presence of minimal residual disease (MRD) is one of the strong predictors of disease outcome in various hematological malignancies including B-ALL and T-ALL, independent of pre-therapeutic risk factors. There is scant Indian data on MRD by flowcytometry in T-ALL including gating strategies, clinical correlation etc. The primary aim of this retrospective observational study was to define the clinico-hematologic characteristics and prognostic significance of patients with ETP/near-ETP versus non-ETP immunophenotype, especially in terms of minimal residual disease at different time points as well as event-free survival (1 year).