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Articles on Genetic and Molecular Oncology

Examining the genetic make-up of a tumour, reading the report and turning the result into treatment. From liquid biopsy to driver mutations and hereditary risk assessment.

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Next generation sequencer used to read a liquid biopsy for cancerGenetic and Molecular Oncology

Liquid Biopsy for Cancer: When It Is Used and What It Shows

Liquid biopsy for cancer reads tumour DNA from a blood sample. When it is requested, how it compares with tissue biopsy and what a negative result means.

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Human karyotype used when looking for a driver mutationGenetic and Molecular Oncology

Driver Mutation or Passenger: How a Genomic Report Is Read

A driver mutation steers tumour growth; a passenger simply travels with it. How the two are separated on a genomic report and what that changes in treatment.

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Learning how to read an NGS report starts at the sequencing instrumentGenetic and Molecular Oncology

How to Read an NGS Report: A Step-by-Step Guide for Patients

How to read an NGS report section by section: panel coverage, variants, TMB and MSI, levels of evidence, and the misreadings that change nothing in treatment.

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Pedigree used when asking whether cancer is hereditary in a familyGenetic and Molecular Oncology

Is Cancer Hereditary? Family Risk and the Two Kinds of Genetic Test

Is cancer hereditary? For about 5 to 10 per cent of cases, yes. How family risk is assessed, who is offered testing and what each result means in practice.

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Table comparing which changes RNA analysis of a tumour and DNA sequencing each showGenetic and Molecular Oncology

What RNA Analysis of Tumours Adds Alongside DNA

RNA analysis does not replace DNA sequencing, it sits beside it: fusions, exon skipping and expression. MTAP loss is the clearest example of the difference.

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Diagram of the TP53 mutation hot spot codons and the structural feature of the Y220C changeGenetic and Molecular Oncology

Can a TP53 Mutation Be Targeted, and Where Do We Stand

A TP53 mutation is found in more than half of all cancers. What the first clinical data on the Y220C change show, and whether an approved treatment exists.

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Diagram comparing the coverage of a targeted panel, whole exome sequencing, whole genome and transcriptome sequencingGenetic and Molecular Oncology

The Difference Between Panel, Exome, Genome and Transcriptome

What whole exome sequencing, a targeted panel, whole genome and transcriptome sequencing measure, which measurement is approved and which is research grade.

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Table of response rates and overall survival hazard ratios for patients with STK11 and KEAP1 mutations in the POSEIDON subgroupsGenetic and Molecular Oncology

How STK11 and KEAP1 Mutations Affect Immunotherapy

STK11 and KEAP1 mutations are linked to resistance to PD-1 and PD-L1 drugs. POSEIDON subgroup data showed a favourable trend with the CTLA-4 triplet.

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Table showing the approval status of the KRAS G12C inhibitors alongside the phase 3 results of the pan-RAS inhibitor approved in pancreatic cancerGenetic and Molecular Oncology

Where KRAS G12C Inhibitors Stand in Pancreatic Cancer

KRAS G12C inhibitors are approved in lung and colorectal cancer but not in pancreatic cancer. The drug approved there is pan-RAS daraxonrasib.

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Chart of the effect of aspirin on recurrence in patients with a PIK3CA mutation in the ALASCCA trialGenetic and Molecular Oncology

What a PIK3CA Mutation Changes in Colorectal Cancer

In localised colorectal cancer with a PIK3CA mutation, 160 mg of aspirin a day markedly cut three-year recurrence. The ALASCCA trial results in full.

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Cell culture examination in the laboratoryGenetic and Molecular Oncology

What Does VUS Mean on an NGS Report?

A variant of uncertain significance is one that has not yet been shown either to raise or not to raise cancer risk. How to read its place in the report.

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