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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: May 19, 2022
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Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review
P Dixon et al, Genetics in Medicine, May 16, 2022

Despite the positive conclusions of the studies included in this systematic review, it is unclear if polygenic risk stratification will contribute to cost-effective cancer screening given the absence of robust evidence on the costs of polygenic risk stratification, the effects of differential ancestry, potential downstream economic sequalae, and how large volumes of polygenic risk data would be collected and used.

Third-generation EGFR and ALK inhibitors: mechanisms of resistance and management
AJ Cooper et al, Nature Rev Clin Oncology, May 2022

The discoveries of EGFR mutations and ALK rearrangements as actionable oncogenic drivers in non-small-cell lung cancer (NSCLC) has propelled a biomarker-directed treatment paradigm for patients with advanced-stage disease. Numerous EGFR and ALK tyrosine kinase inhibitors (TKIs) with demonstrated efficacy in patients with EGFR-mutant and ALK-rearranged NSCLCs have been developed. In this Review, we discuss the development of third-generation EGFR and ALK inhibitors, predominant mechanisms of resistance, and approaches to tackling resistance in the clinic, ranging from novel fourth-generation TKIs to combination regimens and other investigational therapies.

Making BRCA1 genetic test reports easier to understand through user-centered design: A randomized trial.
Recchia Gabriel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 5

Our objective was to apply a user-centered design process to identify phrases, graphics, and ways of communicating numerical risks that could be used to help patients understand their cancer risk and next steps on receiving BRCA1 genetic test results (positive, negative, and variants of uncertain significance). Subjective comprehension, communication efficacy, and actionability were all higher for the user-centered reports, with no difference in perceived risk. Comprehension of participants viewing user-centered reports was significantly better on 2 items, directionally (but not significantly) better on 6 items, and directionally (but not significantly) worse on 2 items.

Comprehensive profiling of 1015 patients’ exomes reveals genomic-clinical associations in colorectal cancer
Q Zhao et al, Nature Comms, April 29, 2022

The genetic basis of colorectal cancer (CRC) and its clinical associations remain poorly understood due to limited samples or targeted genes in current studies. Here, we perform ultradeep whole-exome sequencing on 1015 patients with CRC as part of the ChangKang Project. We identify 46 high-confident significantly mutated genes, 8 of which mutate in 14.9% of patients: LYST, DAPK1, CR2, KIF16B, NPIPB15, SYTL2, ZNF91, and KIAA0586. With an unsupervised clustering algorithm, we propose a subtyping strategy that classisfies CRC patients into four genomic subtypes with distinct clinical characteristics.


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Terrematte Patrick et al. Cancers 2022 14(9)
Cancer genetic testing in marginalized groups during an era of evolving healthcare reform. External Web Site Icon
Modell Stephen M et al. Journal of cancer policy 2022 28100275
Circulating Tumor DNA Is Associated with Response and Survival in Patients with Advanced Leiomyosarcoma. External Web Site Icon
Madanat-Harjuoja Laura M et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 OF1-OF8
Comprehensive genome profiling by next generation sequencing of circulating tumor DNA in solid tumors: a single academic institution experience. External Web Site Icon
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Diagnostic Impact of Next-Generation Sequencing Panels for Lymphoproliferative Neoplasms on Small-Volume Biopsies. External Web Site Icon
Fei Fei et al. American journal of clinical pathology 2022
Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas. External Web Site Icon
Soewito Stephanie et al. JCO oncology practice 2022 18(5) e805-e813
Effects of Metastatic Sites on Circulating Tumor DNA in Patients With Metastatic Colorectal Cancer. External Web Site Icon
Bando Hideaki et al. JCO precision oncology 2022 6e2100535
Establishment of prognostic risk model and drug sensitivity based on prognostic related genes of esophageal cancer. External Web Site Icon
Dai Jingjing et al. Scientific reports 2022 12(1) 8008
Exhaled Breath Condensate (EBC) analysis of circulating tumour DNA (ctDNA) using a lung cancer specific UltraSEEK oncogene panel. External Web Site Icon
Ryan Daniel J et al. Lung cancer (Amsterdam, Netherlands) 2022 16867-73
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study. External Web Site Icon
Barnard Mollie E et al. Journal of medical genetics 2022

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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