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Pharmacogenomics J. 2016 Jun;16(3):249-65. doi: 10.1038/tpj.2015.46. Epub 2015 Jun 30.

Germline and somatic genetic predictors of pathological response in neoadjuvant settings of rectal and esophageal cancers: systematic review and meta-analysis.

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N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, The Russian Ministry of Health and Social Development, Moscow, Russia.
The Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia.
Institute for Systems Biology Moscow, Moscow, Russia.


Oncologists have pointed out an urgent need for biomarkers that can be useful for clinical application to predict the susceptibility of patients to preoperative therapy. This review collects, evaluates and combines data on the influence of reported somatic and germline genetic variations on histological tumor regression in neoadjuvant settings of rectal and esophageal cancers. Five hundred and twenty-seven articles were identified, 204 retrieved and 61 studies included. Among 24 and 14 genetic markers reported for rectal and esophageal cancers, respectively, significant associations in meta-analyses were demonstrated for the following markers. In rectal cancer, major response was more frequent in carriers of the TYMS genotype 2 R/2 R-2 R/3 R (rs34743033), MTHFR genotype 677C/C (rs1801133), wild-type TP53 and KRAS genes. In esophageal cancer, successful therapy appeared to correlate with wild-type TP53. These results may be useful for future research directions to translate reported data into practical clinical use.

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