Patel RR, Mehta MP. Targeted therapy for brain metastases: Improving the therapeutic ratio. Clin Cancer Res. 2007;13(6):1675–83.

Article  CAS  PubMed  Google Scholar 

Achrol AS, Rennert RC, Anders C, Soffietti R, Ahluwalia MS, Nayak L, et al. Brain metastases. Nat Rev Dis Prim. 2019;5(1):5.

Article  PubMed  Google Scholar 

Brastianos PK, Curry WT, Oh KS. Clinical discussion and review of the management of brain metastases. J Natl Compr Canc Netw. 2013;11(9):1153–64.

Article  CAS  PubMed  Google Scholar 

Brastianos PK, Carter SL, Santagata S, Cahill DP, Taylor-Weiner A, Jones RT, et al. Genomic characterization of brain metastases reveals branched evolution and potential therapeutic targets. Cancer Discov. 2015;5(11):1164–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Murtaza M, Dawson SJ, Tsui DWY, Gale D, Forshew T, Piskorz AM, et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature. 2013;497(7447):108–12.

Article  CAS  PubMed  Google Scholar 

Mok T, Wu YL, Lee JS, Yu CJ, Sriuranpong V, Sandoval-Tan J, et al. Detection and dynamic changes of EGFR mutations from circulating tumor DNA as a predictor of survival outcomes in NSCLC patients treated with first-line intercalated erlotinib and chemotherapy. Clin Cancer Res. 2015;21(14):3196–203.

Article  CAS  PubMed  Google Scholar 

Weston CL, Glantz MJ, Connor JR. Detection of cancer cells in the cerebrospinal fluid: current methods and future directions. Fluids Barriers CNS. 2011;8(1):14.

Article  PubMed  PubMed Central  Google Scholar 

Shalaby T, Achini F, Grotzer MA. Targeting cerebrospinal fluid for discovery of brain cancer biomarkers. J Cancer Metastasis Treat. 2016;2016(2):176–87.

Article  Google Scholar 

Li YS, Jiang BY, Yang JJ, Zhang XXC, Zhang Z, Ye JY, et al. Unique genetic profiles from cerebrospinal fluid cell-free DNA in leptomeningeal metastases of EGFR-mutant non-small-cell lung cancer: a new medium of liquid biopsy. Ann Oncol. 2018;29(4):945–52.

Article  CAS  PubMed  Google Scholar 

Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas L, Spigelman AD, et al. Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Clin Genet. 2004;65(3):215–25.

Article  CAS  PubMed  Google Scholar 

Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM. Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6. Carcinogenesis. 2006;27(12):2402–8.

Article  CAS  PubMed  Google Scholar 

Alpert L, Pai RK, Srivastava A, McKinnon W, Wilcox R, Yantiss RK, et al. Colorectal Carcinomas With Isolated Loss of PMS2 Staining by Immunohistochemistry. Arch Pathol Lab Med. 2018;142(4):523–8.

Article  CAS  PubMed  Google Scholar 

Bajwa-ten Broeke SW, Ballhausen A, Ahadova A, Suerink M, Bohaumilitzky L, Seidler F, et al. The coding microsatellite mutation profile of PMS2-deficient colorectal cancer. Exp Mole Pathol. 2021;122:104668.

Borràs E, Pineda M, Cadiñanos J, del Valle J, Brieger A, Hinrichsen I, et al. Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. J Med Genet. 2013;50(8):552–63.

Article  PubMed  Google Scholar 

Liccardo R, Della Ragione C, Mitilini N, De Rosa M, Izzo P, Duraturo F. Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer. Cancer Manage Res. 2019;11:6719–25.

Article  CAS  Google Scholar 

Sugano K, Nakajima T, Sekine S, Taniguchi H, Saito S, Takahashi M, et al. Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. Cancer Sci. 2016;107(11):1677–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Starr J, Puebla G, McMillan J, Lewis JT, Kasi PM. Microsatellite instability-high, malignant insulinoma with brain metastasis. Cureus. 2021;13(8):e16969.

Lamba M, Wakeman C, Ebel R, Hamilton S, Frampton C, Kiesanowski M, et al. Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer. Clin Gastroenterol Hepatol. 2020;18(12):2768–74.

Article  CAS  PubMed  Google Scholar 

Ye SL, Wang HH, He KC, Peng M, Wang YH, Li YW, et al. Clinical characterization of mismatch repair gene-deficient metastatic castration-resistant prostate cancer. Front Oncol. 2020;10:533282.

Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma XR, Marshall ML, et al. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med. 2018;20(10):1167–74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Andrianova MA, Chetan GK, Sibin MK, McKee T, Merkler D, Narasinga R, et al. Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. J Pathol. 2017;243(3):331–41.

Article  CAS  PubMed  Google Scholar 

Yang RR, Li KKW, Zhang ZY, Chan AKY, Wang WW, Chan DTM, et al. Mismatch repair proteins PMS2 and MLH1 can further refine molecular stratification of IDH-mutant lower grade astrocytomas. Clin Neurol Neurosurg. 2021;208:106882.

Krol I, Castro-Giner F, Maurer M, Gkountela S, Szczerba BM, Scherrer R, et al. Detection of circulating tumour cell clusters in human glioblastoma. Br J Cancer. 2018;119(4):487–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Salem ME, Bodor JN, Puccini A, Xiu J, Goldberg RM, Grothey A, et al. Relationship between MLH1, PMS2, MSH2 and MSH6 gene-specific alterations and tumor mutational burden in 1057 microsatellite instability-high solid tumors. Int J Cancer. 2020;147(10):2948–56.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zeng M, Narayanan L, Xu XXS, Prolla TA, Liskay RM, Glazer PM. Ionizing radiation-induced apoptosis via separate Pms2-and p53-dependent pathways. Can Res. 2000;60(17):4889–93.

CAS  Google Scholar 

Fink D, Nebel S, Aebi S, Nehme A, Howell SB. Loss of DNA mismatch repair due to knockout of MSH2 or PMS2 results in resistance to cisplatin and carboplatin. Int J Oncol. 1997;11(3):539–42.

CAS  PubMed  Google Scholar 

Mao XW, Zhang Z, Zheng XX, Xie FF, Duan FD, Jiang LY, et al. Capture-Based Targeted Targeted Ultradeep Sequencing in Paired Tissue and Plasma Samples Demonstrates Differential Subclonal ctDNA-Releasing Capability in Advanced Lung Cancer. J Thorac Oncol. 2017;12(4):663–72.

Article  PubMed  Google Scholar 

Palmieri D, Lockman PR, Thomas FC, Hua E, Herring J, Hargrave E, et al. Vorinostat Inhibits Brain Metastatic Colonization in a Model of Triple-Negative Breast Cancer and Induces DNA Double-Strand Breaks. Clin Cancer Res. 2009;15(19):6148–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Deng Z, Cui L, Li P, Ren N, Zhong Z, Tang Z, et al. Genomic comparison between cerebrospinal fluid and primary tumor revealed the genetic events associated with brain metastasis in lung adenocarcinoma. Cell Death Dis. 2021;12(10):935.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vassella E, Kashani E, Zens P, Kuendig A, Fung C, Scherz A, et al. Mutational profiles of primary pulmonary adenocarcinoma and paired brain metastases disclose the importance of KRAS mutations. Eur J Cancer. 2021;159:227–36.

Article  CAS  PubMed  Google Scholar 

Collins VP. Brain tumours: classification and genes. J Neurol Neurosurg Psychiatry. 2004;75(Suppl 2):ii2-11.

PubMed  PubMed Central  Google Scholar 

Bos PD, Zhang XHF, Nadal C, Shu W, Gomis RR, Nguyen DX, et al. Genes that mediate breast cancer metastasis to the brain. Nature. 2009;459(7249):1005-U137.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao P, Li L, Jiang X, Li Q. Mismatch repair deficiency/microsatellite instability-high as a predictor for anti-PD-1/PD-L1 immunotherapy efficacy. J Hematol Oncol. 2019;12:1–14.

Article  Google Scholar 

Beltran H. DNA Mismatch Repair in Prostate Cancer. J Clin Oncol. 2013;31(14):1782–4.

Article  CAS  PubMed  Google Scholar 

Latham A, Srinivasan P, Kemel Y, Shia J, Bandlamudi C, Mandelker D, et al. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. J Clin Oncol. 2019;37(4):286.

Article  CAS  PubMed  Google Scholar 

Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81(2):214–8.

Article  CAS  PubMed  Google Scholar 

Talseth-Palmer BA, McPhillips M, Groombridge C, Spigelman A, Scott RJ. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Hereditary Cancer Clin Pract. 2010;8:1–10.

Google Scholar 

Sedhom R, Antonarakis ES. Clinical implications of mismatch repair deficiency in prostate cancer. Future Oncol. 2019;15(20):2395–411.

Article  CAS  PubMed  PubMed Central