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J Virol Methods 2021 Apr 8:114149. Epub 2021 Apr 8.

Division of Viral Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA.

A multiplex real-time reverse transcriptase-polymerase chain reaction (rRT-PCR) assay for detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was developed based on the same primer and probe sequences of an existing U.S. CDC Emergency Use authorized test panel, targeting SARS-CoV-2 N1, N2 and human RNase P genes in singleplex. Read More

Gastroenterology 2021 Apr 8. Epub 2021 Apr 8.

Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, New York; Division of Digestive and Liver Diseases, Columbia University Irving Medical Cancer and the Vagelos College of Physicians and Surgeons, New York, New York; Division of General Medicine, Columbia University Irving Medical Cancer and the Vagelos College of Physicians and Surgeons, New York, New York.

Background & Aims: Lynch syndrome is associated with pathogenic variants in 4 mismatch repair (MMR) genes that increase lifetime risk of colorectal cancer (CRC). Guidelines recommend intensive CRC surveillance with colonoscopy every 1-2 years starting at 25 years for all carriers of Lynch syndrome-associated variants, regardless of gene product. We constructed a simulation model to analyze the effects of different ages of colonoscopy initiation and surveillance intervals for each MMR gene (MLH1, MSH2, MSH6, and PMS2) on CRC incidence and mortality, quality-adjusted life-years (QALYs), and cost. Read More

Fam Cancer 2021 Apr 10. Epub 2021 Apr 10.

The Raphael Recanati Genetics Institute, Rabin Medical Center - Beilinson Hospital, 39 Jabotinsky St., 4941492, Petach Tikva, Israel.

Lynch syndrome is an inherited cancer predisposition syndrome caused by germline defects in any of the mismatch repair (MMR) genes. Diagnosis of carriers makes precision prevention, early detection, and tailored treatment possible. Herein we report a novel founder deletion of 18,758 bp, mediated by Alu repeats on both sides, detected in Ethiopian Jews. Read More

J Oncol Pharm Pract 2021 Apr 9:10781552211005525. Epub 2021 Apr 9.

23530Houston Methodist West Hospital, Houston, TX, USA.

Although therapeutically actionable molecular alterations are widely distributed across many cancer types, only a handful of them show evidence of clinical utility and are recommended for routine clinical practice in the management of cancers of colon and rectum (CRC). This 2021 update aims to provide a succinct summary on the use of prognostic and/or predictive biomarkers (expanded , , microsatellite-high [MSI-H] or deficient mismatch repair [dMMR], neurotrophic tyrosine receptor kinase [] fusion genes, and human epidermal growth factor receptor type II [] gene amplification) associated with CRC. Therapeutic implications of each relevant predictive or prognostic biomarker for patients with CRC are described, along with discussion on new developments on (1) biomarker-driven therapies such as testing of , promoter methylation and germline genes in differentiating sporadic CRC or hereditary conditions such as Lynch syndrome; (2) first-line use of immune checkpoint inhibitors in metastatic CRC; (3) risk stratification and therapy selection based on primary tumor location (left-sided vs. Read More

Ann Palliat Med 2021 Mar 23. Epub 2021 Mar 23.

Department of Thoracic Oncology, Cancer Center, West China Hospital, Medical School, Sichuan University, Chengdu, China.

Immune checkpoint inhibitors (ICI) monotherapy or combination therapies have become increasingly popular in patients with advanced non-small cell lung cancer (NSCLC). However, there are still many unknowns concerning the predictive bio-markers and resistance mechanisms to immunotherapy. Patients with primary tumor STK11 mutation reportedly to have a lower response rate than the STK11 wildtype and possibly a primary resistance mechanism to ICIs. Read More