[1] |
De’ Angelis GL, Bottarelli L, Azzoni C, et al. Microsatellite instability in colorectal cancer[J]. Acta Biomed, 2018, 89(9-S): 97-101.
|
[2] |
Hitchins MP, Vogelaar IP, Brennan K, et al. Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome[J]. BMJ Open Gastroenterol, 2019, 6(1): e000299.
|
[3] |
Aronson M, Colas C, Shuen A, et al. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group[J]. J Med Genet, 2022, 59(4): 318-327.
|
[4] |
Suerink M, Ripperger T, Messiaen L, et al. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy[J]. J Med Genet, 2019, 56(2): 53-62.
|
[5] |
Pavelka Z, Zitterbart K, Nosková H, et al. Effective immunotherapy of glioblastoma in an adolescent with constitutional mismatch repair-deficiency syndrome[J]. Klin Onkol, 2019, 32(1): 70-74.
|
[6] |
Hizuka K, Hagiwara SI, Maeyama T, et al. Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: A case report[J]. BMC Gastroenterol, 2021, 21(1): 60.
|
[7] |
Soplepmann J, Laidre P. Teenage colorectal polyposis and cancer may be caused by constitutional mismatch repair deficiency (CMMRD)[J]. Acta Oncol, 2016, 55(12): 1503-1505.
|
[8] |
张括, 李金明. 中国人群遗传病基因型与表型数据库的建立对遗传病精准诊断的重要性[J]. 中华医学杂志, 2020, 100(39): 3041-3044.
|
[9] |
Xu M, He H, Yang Z, et al. Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report[J]. Biomed Rep, 2020, 12(3): 134-138.
|
[10] |
Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US Multi-society Task Force on colorectal cancer[J]. Am J Gastroenterol, 2014, 109(8): 1159-1179.
|