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651 results
  • [Therapeutic aspects of inherited colorectal cancer syndromes]. [Review]
    Magy Onkol. 2020 Mar 17; 64(1):32-37.Uhlyarik A
  • Inherited colorectal cancer syndromes account for 6-10% of all cases. The diagnosis of the polypoid forms is easier due to their phenotypes, compared to the non-polypoid cases. The evaluation of the MSI/MMR status of the already developed colorectal cancer cases could help in the recognition and screening of the latter forms. This screening method is much more sensitive than that solely based on …
  • Beyond the burn: Studies on the physiological effects of flamethrowers during World War II. [Journal Article]
    Mil Med Res. 2020 Feb 27; 7(1):8.Van Wyck DW
  • Flamethrowers are widely considered one of warfare's most controversial weapons and are capable of inflicting gruesome physical injuries and intense psychological trauma. Despite being the last of the major combatants in World War II (WWII) to develop them, the United States military quickly became the most frequent and adept operator of portable flamethrowers. This gave the U.S. military ample o…
  • Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree. [Journal Article]
    Dis Markers. 2020; 2020:8360841.Zaib T, Zhang C, … Fu S
  • Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRCs) inherited in an autosomal-dominant manner. Here, we reported a multigeneration Chinese family clinically diagnosed with LS according to the Amsterdam II criteria. To identify the underlying causative gene for LS in this family, whole-exome sequencing (WES) was performed. A germline missense variant (c.2054C>T:p.S685F) in e…
  • The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas. [Journal Article]
    Acta Neuropathol Commun. 2020 02 12; 8(1):15.McCord M, Steffens A, … Horbinski C
  • A subset of gliomas has DNA repair defects that lead to hypermutated genomes. While such tumors are resistant to alkylating chemotherapies, they may also express more mutant neoantigens on their cell surfaces, and thus be more responsive to immunotherapies. A fast, inexpensive method of screening for hypermutated gliomas would therefore be of great clinical value. Since immunohistochemistry (IHC)…
  • Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome. [Journal Article]
    J Med Genet. 2020 Jan 28 [Online ahead of print]Wang Q, Leclerc J, … French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC)
  • CONCLUSIONS: Our results provide further insight into the role of the PMS2 gene in LS. While PMS2 variants are mostly detected in families not fulfilling Amsterdam criteria, which supports their lower penetrance, they can nevertheless cause early-onset cancers, highlighting the variability of their penetrance.
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