References
1. Lim W., Hearle N., Shah B., Murday V., Hodgson S.V., Lucassen A., et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003; 89 (2): 308–13. DOI: https://doi.org/10.1038/sj.bjc.6601030
2. Giardiello F.M., Brensinger J.D., Tersmette A.C., Goodman S.N., Petersen G.M., Booker S.V., et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000; 119 (6): 1447–53. DOI: https://doi.org/10.1053/gast.2000.20228
3. Wu M., Krishnamurthy K. Peutz-Jeghers syndrome. In: StatPearls [Electronic resource]. Treasure Island, FL: StatPearls Publishing, 2022. URL: https://pubmed.ncbi.nlm.nih.gov/30570978/ (date of access October 01, 2022)
4. Huang Z., Miao S., Wang L., Zhang P., Wu B., Wu J., et al. Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. BMC Gastroenterol. 2015; 15: 166. DOI: https://doi.org/10.1186/s12876-015-0397-9
5. de Leng W.W., Jansen M., Carvalho R., Polak M., Musler A.R., Milne A.N., et al. Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. Clin Genet. 2007; 72 (6): 568–73. DOI: https://doi.org/10.1111/j.1399-0004.2007.00907.x
6. Altamish M., Dahiya R., Singh A.K., Mishra A., Aljabali A.A.A., Satija S., et al. Role of the serine/threonine kinase 11 (STK11) or liver kinase B1 (LKB1) gene in Peutz-Jeghers syndrome. Crit Rev Eukaryot Gene Expr. 2020; 30 (3): 245–52. DOI: https://doi.org/10.1615/CritRevEukaryotGeneExpr.2020033451
7. Alhopuro P., Katajisto P., Lehtonen R., Ylisaukko-Oja S.K., Näätsaari L., Karhu A., et al. Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome. Br J Cancer. 2005; 92 (6): 1126-9. DOI: https://doi.org/10.1038/sj.bjc.6602454
8. Thakur N., Reddy D.N., Rao G.V., Mohankrishna P., Singh L., Chandak G.R. A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients. BMC Med Genet. 2006; 7: 73. DOI: https://doi.org/10.1186/1471-2350-7-73
9. Ryzhkova O.P., Kardymon O.L., Prokhorchuk E.B., Konovalov F.A., Maslennikov A.B., Stepanov V.A., et al. Guidelines for the interpretation of massive parallel sequencing variants (update 2018, v2). Meditsinskaya genetika [Medical Genetics]. 2019; 18 (2): 3–24. DOI: https://doi.org/10.25557/2073-7998.2019.02.3-23 (in Russian)
10. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17 (5): 405–24. DOI: https://doi.org/10.1038/gim.2015.30
11. Xiang J., Peng J., Baxter S., Peng Z. AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants. Hum Mutat. 2020; 41 (9): 1488–98. DOI: https://doi.org/10.1002/humu.24051 URL: http://autopvs1.genetics.bgi.com/ (date of access September 20, 2022)
12. Coban-Akdemir Z., White J.J., Song X., Jhangiani S.N., Fatih J.M., Gambin T., et al. Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles. Am J Hum Genet. 2018; 103 (2): 171–87. DOI: https://doi.org/10.1016/j.ajhg.2018.06.009 URL: https://nmdprediction.shinyapps.io/nmdescpredictor/ (date of access September 20, 2022)
13. Pécuchet N., Laurent-Puig P., Mansuet-Lupo A., Legras A., Alifano M., Pallier K., et al. Different prognostic impact of STK11 mutations in non-squamous non-small-cell lung cancer. Oncotarget. 2017; 8 (14): 23 831-40. DOI: https://doi.org/10.18632/oncotarget.6379
14. Dahmani R., Just P.A., Delay A., Canal F., Finzi L., Prip-Buus C., et al. A novel LKB1 isoform enhances AMPK metabolic activity and displays oncogenic properties. Oncogene. 2015; 34 (18): 2337–46. DOI: https://doi.org/10.1038/onc.2014.182
15. DeVita V.T., Lawrence T.S., Rosenberg S.A. DeVita, Hellman, and Rosenberg’s Cancer: Principles & Practice of Oncology. 8th ed. Philadelphia: Lippincott Williams and Wilkins, 2008: 1: 159–67.
16. Forte G., Cariola F., De Marco K., Manghisi A., Guglielmi F.A., Armentano R., et al. A novel STK11 gene mutation (c.388dupG, p.Glu130Glyfs-33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107-170. Genes Dis. 2021; 9 (2): 288–91. DOI: https://doi.org/10.1016/j.gendis.2021.11.002
17. Shorning B.Y., Clarke A.R. Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. Semin Cell Dev Biol. 2016; 52: 21–9. DOI: https://doi.org/10.1016/j.semcdb.2016.02.015
18. Zhao N., Wu H., Li P., Wang Y., Dong L., Xiao H., et al. A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome. Mol Genet Genomic Med. 2021; 9 (8): e1729. DOI: https://doi.org/10.1002/mgg3.1729
19. Bonanno L., Zulato E., Pavan A., Attili I., Pasello G., Conte P., et al. LKB1 and tumor metabolism: the interplay of immune and angiogenic microenvironment in lung cancer. Int J Mol Sci. 2019; 20 (8): 1874. DOI: https://doi.org/10.3390/ijms20081874
20. Zhiqing Wang, Zhi Wang, Ying Wang, Jianhua Wu, Zonglin Yu, Chudi Chen, et al. High risk and early onset of cancer in Chinese patients with Peutz-Jeghers syndrome. Front Oncol. 2022; 12: 900516. DOI: https://doi.org/10.3389/fonc.2022.900516
21. Sitthideatphaiboon P., Galan-Cobo A., Negrao M.V., Qu X., Poteete A., Zhang F., et al. STK11/LKB1 mutations in NSCLC are associated with KEAP1/NRF2-dependent radiotherapy resistance targetable by glutaminase inhibition. Clin Cancer Res. 2021; 27 (6): 1720–33. DOI: https://doi.org/10.1158/1078-0432.CCR-20-2859
22. Skoulidis F., Goldberg M.E., Greenawalt D.M., Hellmann M.D., Awad M.M., Gainor J.F., et al. STK11/LKB1 mutations and PD-1 inhibitor resistance in KRAS-mutant lung adenocarcinoma. Cancer Discov. 2018; 8 (7): 822–35. DOI: https://doi.org/10.1158/2159-8290.CD-18-0099
23. Chen Y., Liu Y., Zhou Y., You H. Molecular mechanism of LKB1 in the invasion and metastasis of colorectal cancer. Oncol Rep. 2019; 41 (2): 1035–44. DOI: https://doi.org/10.3892/or.2018.6877
24. Bukharov A.V., Derzhavin V.A., Yadrina A.V., Erin E.A., Elkhov D.O., Aliev M.D., et al. Surgical treatment of patients with bone metastases. Clinical and Experimental Surgery. Petrovsky Journal. 2022; 10 (3): 100–7. DOI: https://doi.org/10.33029/2308-1198-2022-10-3-100-107 (in Russian)
25. Tacheci I., Kopacova M., Bures J. Peutz-Jeghers syndrome. Curr Opin Gastroenterol. 2021; 37 (3): 245–54. DOI: https://doi.org/10.1097/MOG.0000000000000718