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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: Sep 16, 2021
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Detection of Neoplasms by Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid
W Gu et al, JAMA Network Open, September 13, 2021

Can metagenomic next-generation sequencing (mNGS) of cerebrospinal fluid (CSF), a test designed to diagnose neurological infections, also detect genetic signatures of cancer in patients with presentations that are suggestive of neuroinflammatory disease? In this case-control study of 130 patients, many of whom with negative CSF cytologic testing and/or flow cytometry results, CSF mNGS detected genetic evidence for a malignant neoplasm, with a sensitivity of 75% and specificity of 100%.

Meta-Analysis of Quality of Life in Cancer Patients Treated with Immune Checkpoint Inhibitors
BD Gonzales et al, JNCI, September 2021

Twenty-six of 20,323 publications met inclusion criteria. Global QOL did not change over time in patients treated with ICIs (k?=?26, n?=?6,974, P?=?.19). Larger improvements in global QOL was observed in patients receiving ICI vs. non-ICI regimens (k?=?16, ICI n?=?3,588, non-ICI n?=?2,948, P?<?.001). Physical functioning did not change in patients treated with ICIs (k?=?14, n?=?3,169, P=.47.

Genomic and evolutionary classification of lung cancer in never smokers
T Zhang et al, Nature Genetics, September 6, 2021

Whole-genome sequencing of 232 LCINS showed 3 subtypes defined by copy number aberrations. The dominant subtype (piano), which is rare in lung cancer in smokers, features somatic UBA1 mutations, germline AR variants and stem cell-like properties, including low mutational burden, high intratumor heterogeneity, long telomeres, frequent KRAS mutations and slow growth, as suggested by the occurrence of cancer drivers’ progenitor cells many years before tumor diagnosis. The other subtypes are characterized by specific amplifications and EGFR mutations (mezzo-forte) and whole-genome doubling (forte). No strong tobacco smoking signatures were detected, even in cases with exposure to secondhand tobacco smoke.

Should women with Lynch syndrome be offered gynaecological cancer surveillance?
NAJ Ryan, BMJ, September 2, 2021

Lynch syndrome is an inherited genetic condition associated with an increased risk of endometrial and ovarian cancer in women. Limited low quality evidence from observational studies show that gynaecological surveillance detects cancers in women with Lynch syndrome; but it is uncertain if this improves survival, and the optimal testing strategy is not established. Inform women with Lynch syndrome about their risk of developing cancer and initiate a discussion about their preference for risk reducing surgery which is definitive, or options for annual review and gynaecological surveillance, explaining their risks and benefits.

news Latest News and Publications
An Ovarian Cancer Susceptible Gene Prediction Method Based on Deep Learning Methods. External Web Site Icon
Ye Lu et al. Frontiers in cell and developmental biology 2021 9730475
Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome. External Web Site Icon
Wright Jason D et al. JAMA network open 2021 4(9) e2123616
Cost-effectiveness of treatment optimisation with biomarkers for immunotherapy in solid tumours: a systematic review protocol. External Web Site Icon
Mucherino Sara et al. BMJ open 2021 11(9) e048141
DPYD Genotyping in Patients Who Have Planned Cancer Treatment With Fluoropyrimidines: A Health Technology Assessment. External Web Site Icon
et al. Ontario health technology assessment series 2021 21(14) 1-186
Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome. External Web Site Icon
Petelin Lara et al. JAMA network open 2021 4(9) e2124384
Familial Risks and Proportions Describing Population Landscape of Familial Cancer. External Web Site Icon
Hemminki Kari et al. Cancers 2021 13(17)
Genomic profiling using the UltraSEEK panel identifies discordancy between paired primary and breast cancer brain metastases and an association with brain metastasis-free survival. External Web Site Icon
Giannoudis Athina et al. Breast cancer research and treatment 2021
Implementation of an embedded in-clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma. External Web Site Icon
Walker Evan J et al. The oncologist 2021
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study. External Web Site Icon
Chandrasekaran Dhivya et al. Cancers 2021 13(17)
Molecular profiling of advanced solid tumours. The impact of experimental molecular-matched therapies on cancer patient outcomes in early-phase trials: the MAST study. External Web Site Icon
Gambardella Valentina et al. British journal of cancer 2021


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