Alhmoud JF, Woolley JF, Al Moustafa AE, Malki MI (2020) DNA damage/repair management in cancers. Cancers (Basel). https://doi.org/10.3390/cancers12041050

Article  PubMed  PubMed Central  Google Scholar 

Waarts MR, Stonestrom AJ, Park YC, Levine RL (2022) Targeting mutations in cancer. J Clin Invest. https://doi.org/10.1172/jci154943

Article  PubMed  PubMed Central  Google Scholar 

GDC Distribution of Most Frequently Mutated Genes [Internet].: National Cancer Institute 2024 [Available from: https://portal.gdc.cancer.gov/analysis_page?app=MutationFrequencyApp

Mortazavipour MM, Mahdian R, Shahbazi S (2022) The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: a review. International Journal of Reproductive BioMedicine (IJRM) 20:613–26. https://doi.org/10.18502/ijrm.v20i8.11751

Article  CAS  Google Scholar 

Farahani MS, Shahbazi S, Moghaddam SA, Mahdian R (2015) Evaluation of KRAS gene expression and LCS6 variant in genomic and cell-free DNA of Iranian women with endometriosis. Reprod Sci 22:679–84. https://doi.org/10.1177/1933719114556478

Article  CAS  PubMed  Google Scholar 

Mortazavipour MM, Shahbazi S, Mahdian R (2020) Detection of paternal IVS-II-1 (G > A) (HBB: c.315 + 1G > A) mutation in cell-free fetal DNA using COLD-PCR assay. Hemoglobin 44(3):168–73. https://doi.org/10.1080/03630269.2020.1768864

Article  CAS  PubMed  Google Scholar 

Iams WT, Mackay M, Ben-Shachar R, Drews J, Manghnani K, Hockenberry AJ et al (2024) Concurrent Tissue and Circulating Tumor DNA Molecular Profiling to Detect Guideline-Based Targeted Mutations in a Multicancer Cohort. JAMA Network Open 7:e2351700-e. https://doi.10.1001/jamanetworkopen.2023.51700

Srivastava P, Prasad D (2023) Isothermal nucleic acid amplification and its uses in modern diagnostic technologies. 3 Biotech 13:200. https://doi.org/10.1007/s13205-023-03628-6

Article  PubMed  PubMed Central  Google Scholar 

Notomi T, Mori Y, Tomita N, Kanda H (2015) Loop-mediated isothermal amplification (LAMP): principle, features, and future prospects. J Microbiol 53:1–5. https://doi.org/10.1007/s12275-015-4656-9

Article  CAS  PubMed  Google Scholar 

Oscorbin I, Filipenko M (2023) Bst polymerase - a humble relative of Taq polymerase. Comput Struct Biotechnol J 21:4519–4535. https://doi.org/10.1016/j.csbj.2023.09.008

Article  CAS  PubMed  PubMed Central  Google Scholar 

Peng Y, Wang Y, Zhou C, Mei W, Zeng C (2022) PI3K/Akt/mTOR pathway and its role in cancer therapeutics: are we making headway? Front Oncol 12:819128. https://doi.org/10.3389/fonc.2022.819128

Article  CAS  PubMed  PubMed Central  Google Scholar 

Glaviano A, Foo ASC, Lam HY, Yap KCH, Jacot W, Jones RH et al (2023) PI3K/AKT/mTOR signaling transduction pathway and targeted therapies in cancer. Mol Cancer 22:138. https://doi.org/10.1186/s12943-023-01827-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kalofonou M, Malpartida-Cardenas K, Alexandrou G, Rodriguez-Manzano J, Yu L-S, Miscourides N et al (2020) A novel hotspot specific isothermal amplification method for detection of the common PIK3CA p.H1047R breast cancer mutation. Sci Rep 10:4553. https://doi.org/10.1038/s41598-020-60852-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alexandrou G, Moser N, Ali S, Coombes CR, Shaw JA, Georgiou P, Toumazou C, Kalofonou M (2023) Distinguishing PIK3CA p.E545K Mutational Status from Pseudogene DNA with a Next-Generation ISFET Sensor Array. IEEE International Symposium on Circuits and Systems (ISCAS):1–5

Bahar ME, Kim HJ, Kim DR (2023) Targeting the RAS/RAF/MAPK pathway for cancer therapy: from mechanism to clinical studies. Signal Transduct Target Ther 8:455. https://doi.org/10.1038/s41392-023-01705-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hayes TK, Aquilanti E, Persky NS, Yang X, Kim EE, Brenan L et al (2024) Comprehensive mutational scanning of EGFR reveals TKI sensitivities of extracellular domain mutants. Nat Commun 15:2742. https://doi.org/10.1038/s41467-024-45594-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ikeda S, Takabe K, Inagaki M, Funakoshi N, Suzuki K (2007) Detection of gene point mutation in paraffin sections using in situ loop-mediated isothermal amplification. Pathol Int 57:594–9. https://doi.org/10.1111/j.1440-1827.2007.02144.x

Article  CAS  PubMed  Google Scholar 

Matsumoto N, Kumasaka A, Ando T, Komiyama K (2018) Detection of EGFR gene mutation by mutation-oriented LAMP method. Anticancer Res 38:2093–2099. https://doi.org/10.21873/anticanres.12449

Article  CAS  PubMed  Google Scholar 

Arjuna S, Venkataram R, Dechamma PN, Chakraborty G, Babu N, D’Cruz A et al (2020) Non-invasive detection of EGFR mutations by cell-free loop-mediated isothermal amplification (CF-LAMP). Sci Rep 10:17559. https://doi.10.1038/s41598-020-74689-3

Horiuchi S, Saito Y, Matsui A, Takahashi N, Ikeya T, Hoshi E et al (2020) A novel loop–mediated isothermal amplification method for efficient and robust detection of EGFR mutations. Int J Oncol 56:743–749. https://doi.org/10.3892/ijo.2020.4961

Article  CAS  PubMed  PubMed Central  Google Scholar 

Saito Y, Takahashi N, Matsui A, Michiyuki S, Yamauchi Y, Shimizu Y et al (2021) Comparative study of the loop-mediated isothermal amplification method and the QIAGEN therascreen PCR kit for the detection of EGFR mutations in non-small cell lung cancer. J Thorac Dis 13:743–53. https://doi.org/10.21037/jtd-20-2642

Article  PubMed  PubMed Central  Google Scholar 

Saito Y, Matsui A, Michiyuki S, Morooka H, Ibi T, Yamauchi Y et al (2022) Loop-mediated isothermal amplification as point-of-care testing for EGFR-mutated lung adenocarcinoma. Micromachines (Basel). https://doi.org/10.3390/mi13060897

Article  PubMed  PubMed Central  Google Scholar 

Bteich F, Mohammadi M, Li T, Bhat MA, Sofianidi A, Wei N et al (2023) Targeting KRAS in colorectal cancer: a bench to bedside review. Int J Mol Sci. https://doi.org/10.3390/ijms241512030

Article  PubMed  PubMed Central  Google Scholar 

Judd J, Abdel Karim N, Khan H, Naqash AR, Baca Y, Xiu J et al (2021) Characterization of KRAS mutation subtypes in non–small cell lung cancer. Mol Cancer Ther 20:2577–84. https://doi.org/10.1158/1535-7163.MCT-21-0201

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kumasaka A, Matsumoto N, Mukae S, Kitano T, Noguchi H, Ohki H et al (2016) Rapid and specific screening assay for KRAS oncogene mutation by a novel gene amplification method. Anticancer Res 36:1571–1579

CAS  PubMed  Google Scholar 

Fu Y, Duan X, Huang J, Huang L, Zhang L, Cheng W et al (2019) Detection of KRAS mutation via ligation-initiated LAMP reaction. Sci Rep 9:5955. https://doi.org/10.1038/s41598-019-42542-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Itonaga M, Matsuzaki I, Warigaya K, Tamura T, Shimizu Y, Fujimoto M et al (2016) Novel methodology for rapid detection of KRAS mutation using PNA-LNA mediated loop-mediated isothermal amplification. PLoS One 11:e0151654. https://doi.org/10.1371/journal.pone.0151654

Article  CAS  PubMed  PubMed Central  Google Scholar 

Du WF, Ge JH, Li JJ, Tang LJ, Yu RQ, Jiang JH (2019) Single-step, high-specificity detection of single nucleotide mutation by primer-activatable loop-mediated isothermal amplification (PA-LAMP). Anal Chim Acta 1050:132–8. https://doi.org/10.1016/j.aca.2018.10.068

Article  CAS  PubMed  Google Scholar 

Ding X, Yin K, Chen J, Wang K, Liu C (2019) A ribonuclease-dependent cleavable beacon primer triggering DNA amplification for single nucleotide mutation detection with ultrahigh sensitivity and selectivity. Chem Commun (Camb) 55:12623–12626. https://doi.org/10.1039/c9cc06296c

Article  CAS  PubMed  Google Scholar 

Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739–44. https://doi.org/10.1038/nature08617

Article  CAS  PubMed  PubMed Central