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[Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].

Zhou DY, Liu C, Huang J, Xu N, Ji X, Yang KX, Peng JB, Pan H, Xu WJ, Zhu Z. Zhou DY, et al. Zhonghua Yi Xue Za Zhi. 2024 Feb 20;104(7):547-551. doi: 10.3760/cma.j.cn112137-20231122-01170. Zhonghua Yi Xue Za Zhi. 2024. PMID: 38317368 Chinese.

MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.

Helderman NC, Andini KD, van Leerdam ME, van Hest LP, Hoekman DR, Ahadova A, Bajwa-Ten Broeke SW, Bosse T, van der Logt EMJ, Imhann F, Kloor M, Langers AMJ, Smit VTHBM, Terlouw D, van Wezel T, Morreau H, Nielsen M. Helderman NC, et al. J Mol Diagn. 2024 Feb;26(2):106-114. doi: 10.1016/j.jmoldx.2023.10.005. Epub 2023 Dec 5. J Mol Diagn. 2024. PMID: 38061582 Free article.

MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.

Carnevali IW, Cini G, Libera L, Sahnane N, Facchi S, Viel A, Sessa F, Tibiletti MG. Carnevali IW, et al. Genes (Basel). 2023 Nov 9;14(11):2060. doi: 10.3390/genes14112060. Genes (Basel). 2023. PMID: 38003003 Free PMC article.

[Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma].

Liu Y, Wang YX, Sun XJ, Ting X, Wu R, Liu XD, Liu CR. Liu Y, et al. Zhonghua Fu Chan Ke Za Zhi. 2023 Oct 25;58(10):755-765. doi: 10.3760/cma.j.cn112141-20230711-00316. Zhonghua Fu Chan Ke Za Zhi. 2023. PMID: 37849256 Chinese.

Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.

Yang SR, Gedvilaite E, Ptashkin R, Chang J, Ziegler J, Mata DA, Villafania LB, Nafa K, Hechtman JF, Benayed R, Zehir A, Benhamida J, Arcila ME, Mandelker D, Rudin CM, Paik PK, Drilon A, Schoenfeld AJ, Ladanyi M. Yang SR, et al. J Thorac Oncol. 2024 Mar;19(3):409-424. doi: 10.1016/j.jtho.2023.10.004. Epub 2023 Oct 12. J Thorac Oncol. 2024. PMID: 37838086

Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study.

Kaneko M, Nakashima M, Sugiura K, Ishida N, Tamura S, Tani S, Yamade M, Hamaya Y, Osawa S, Tatsuta K, Kurachi K, Baba S, Iwashita Y, Arai T, Sugimura H, Maekawa M, Sugimoto K, Iwaizumi M. Kaneko M, et al. Medicine (Baltimore). 2023 Sep 22;102(38):e35022. doi: 10.1097/MD.0000000000035022. Medicine (Baltimore). 2023. PMID: 37746995 Free PMC article.

MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand.

Pongsavee M, Wisuwan K, Pongsavee K. Pongsavee M, et al. Asian Pac J Cancer Prev. 2023 Aug 1;24(8):2911-2916. doi: 10.31557/APJCP.2023.24.8.2911. Asian Pac J Cancer Prev. 2023. PMID: 37642081 Free PMC article.

Key role of phosphorylation sites in ATPase domain and Linker region of MLH1 for DNA binding and functionality of MutLα.

Firnau MB, Plotz G, Zeuzem S, Brieger A. Firnau MB, et al. Sci Rep. 2023 Aug 2;13(1):12503. doi: 10.1038/s41598-023-39750-x. Sci Rep. 2023. PMID: 37532794 Free PMC article.

Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger.

Hitchins MP, Dámaso E, Alvarez R, Zhou L, Hu Y, Diniz MA, Pineda M, Capella G, Pearlman R, Hampel H. Hitchins MP, et al. J Natl Compr Canc Netw. 2023 Jul;21(7):743-752.e11. doi: 10.6004/jnccn.2023.7020. J Natl Compr Canc Netw. 2023. PMID: 37433431

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.

Wolf K, Kosinski J, Gibson TJ, Wesch N, Dötsch V, Genuardi M, Cordisco EL, Zeuzem S, Brieger A, Plotz G. Wolf K, et al. Nucleic Acids Res. 2023 Jul 7;51(12):6307-6320. doi: 10.1093/nar/gkad418. Nucleic Acids Res. 2023. PMID: 37224528 Free PMC article.

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