Borun P, Bartkowiak A, Banasiewicz T, et al. High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome. BMC Med Genet. 2013;14:58.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105(6):1258–64. author reply 65.

Article  PubMed  Google Scholar 

Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447–53.

Article  CAS  PubMed  Google Scholar 

Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. 1998;128(11):896–9.

Article  CAS  PubMed  Google Scholar 

Wang G, Bie F, Qu X, et al. Expression profiling of ubiquitin-related genes in LKB1 mutant lung adenocarcinoma. Sci Rep. 2018;8(1):13221.

Article  PubMed  PubMed Central  Google Scholar 

Lin H, Li N, He H, et al. AMPK inhibits the Stimulatory effects of TGF-beta on Smad2/3 activity, Cell Migration, and epithelial-to-mesenchymal transition. Mol Pharmacol. 2015;88(6):1062–71.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391(6663):184–7.

Article  CAS  PubMed  Google Scholar 

Ausavarat S, Leoyklang P, Vejchapipat P, Chongsrisawat V, Suphapeetiporn K, Shotelersuk V. Novel mutations in the STK11 gene in Thai patients Withpeutz-Jeghers syndrome. World J Gastroenterol 2009; 15(42).

Krishnan V, Chawla A, Wee E, Peh WC. Clinics in diagnostic imaging. 159. Jejunal intussusception due to Peutz-Jeghers syndrome. Singap Med J. 2015;56(2):81–5. quiz 6.

Article  Google Scholar 

Resta N, Pierannunzio D, Lenato GM, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45(7):606–11.

Article  CAS  PubMed  Google Scholar 

Turpin A, Cattan S, Leclerc J, et al. [Hereditary predisposition to cancers of the digestive tract, breast, gynecological and gonadal: focus on the Peutz-Jeghers]. Bull Cancer. 2014;101(9):813–22.

Article  PubMed  Google Scholar 

Zhu L, Li X, Yuan Y, Dong C, Yang M. APC promoter methylation in gastrointestinal Cancer. Front Oncol. 2021;11:653222.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Connolly DC, Katabuchi H, Cliby WA, Cho KR. Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher’s syndrome. Am J Pathol. 2000;156(1):339–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu S, Shen D, Zhao Y, Kang N, Wang X. Primary endocervical gastric-type adenocarcinoma: a clinicopathologic and immunohistochemical analysis of 23 cases. Diagn Pathol. 2019;14(1):72.

Article  PubMed  PubMed Central  Google Scholar 

Tan TY, Dillon OJ, Stark Z, et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for Ambulant Children with suspected monogenic conditions. JAMA Pediatr. 2017;171(9):855–62.

Article  PubMed  PubMed Central  Google Scholar 

Scholz T, Blohm ME, Kortum F, et al. Whole-exome sequencing in critically ill neonates and infants: diagnostic yield and predictability of monogenic diagnosis. Neonatology. 2021;118(4):454–61.

Article  PubMed  Google Scholar 

Fu F, Tao X, Jiang Z, et al. Identification of germline mutations in East-Asian Young never-smokers with lung adenocarcinoma by whole-exome sequencing. Phenomics. 2023;3(2):182–9.

Article  CAS  PubMed  Google Scholar 

Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209–15.

Article  CAS  PubMed  Google Scholar 

van Lier MG, Westerman AM, Wagner A, et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011;60(2):141–7.

Article  PubMed  Google Scholar 

Mehenni H, Resta N, Park JG, Miyaki M, Guanti G, Costanza MC. Cancer risks in LKB1 germline mutation carriers. Gut. 2006;55(7):984–90.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang Z, Wu B, Mosig RA, et al. STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome. Hum Mutat. 2014;35(7):851–8.

Article  CAS  PubMed  Google Scholar 

Salloch H, Reinacher-Schick A, Schulmann K, et al. Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis. 2010;25(1):97–107.

Article  PubMed  Google Scholar 

Talia KL, McCluggage WG. The developing spectrum of gastric-type cervical glandular lesions. Pathology. 2018;50(2):122–33.

Article  PubMed  Google Scholar 

Kim Y, Kim EY, Kim TJ, et al. A rare case of gastric-type mucinous adenocarcinoma in a woman with Peutz-Jeghers syndrome. Obstet Gynecol Sci. 2019;62(6):474–7.

Article  PubMed  PubMed Central  Google Scholar 

Jiang YL, Zhao ZY, Li BR, Wang H, Yu ED, Ning SB. STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients. Cancer Genet. 2019;230:47–57.

Article  CAS  PubMed  Google Scholar 

Wangler MF, Chavan R, Hicks MJ, et al. Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. J Pediatr Hematol Oncol. 2013;35(4):323–8.

Article  PubMed  PubMed Central  Google Scholar 

Ylikorkala A, Avizienyte E, Tomlinson IP, et al. Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet. 1999;8(1):45–51.

Article  CAS  PubMed  Google Scholar 

Ying W. Phenomic studies on diseases: potential and challenges. Phenomics. 2023;3(3):285–99.

Article  PubMed  PubMed Central  Google Scholar 

Kopacova M, Tacheci I, Rejchrt S, Bures J. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397–408.

Article  PubMed  PubMed Central  Google Scholar 

Meserve EE, Nucci MR. Peutz-Jeghers Syndrome: Pathobiology, pathologic manifestations, and suggestions for recommending genetic testing in Pathology Reports. Surg Pathol Clin. 2016;9(2):243–68.

Article  PubMed  Google Scholar