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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: May 16, 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.

news Latest News and Publications
Accuracy of Perceived Breast Cancer Risk in Black and White Women with an Elevated Risk. External Web Site Icon
Young Jessica M L et al. Ethnicity & disease 2022 32(2) 81-90
Anchored Multiplex PCR Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA. External Web Site Icon
Diefenbach Russell J et al. Frontiers in oncology 2022 12820510
Assessing Breast Cancer Risks to Improve Care for an Increased-Risk Population within Eastern North Carolina. External Web Site Icon
Shelton Charles H et al. North Carolina medical journal 2022 83(3) 221-228
Clinical utility of comprehensive circulating tumor DNA genotyping compared with standard of care tissue testing in patients with newly diagnosed metastatic colorectal cancer. External Web Site Icon
Benavides M et al. ESMO open 2022 7(3) 100481
Cost-effectiveness of using artificial intelligence versus polygenic risk score to guide breast cancer screening. External Web Site Icon
Mital Shweta et al. BMC cancer 2022 22(1) 501
Effects of diet education on empowerment for individuals who have an increased risk of developing breast or colon cancer: A pilot study. External Web Site Icon
Tlusty Kaitlyn et al. Journal of genetic counseling 2022
Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: a prospective study. External Web Site Icon
Brédart Anne et al. Clinical genetics 2022
Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women. External Web Site Icon
Kaphingst Kimberly A et al. Frontiers in genetics 2022 13866062
Invited editorial: Q and A on hereditary lung cancer. External Web Site Icon
Benusiglio Patrick R et al. Respiratory medicine and research 2022 81100881
Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals. External Web Site Icon
Steinberg Julia et al. Hereditary cancer in clinical practice 2022 20(1) 18


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