Detalhe da pesquisa
1.
Genomic Landscape of Lynch Syndrome Colorectal Neoplasia Identifies Shared Mutated Neoantigens for Immunoprevention.
Gastroenterology
; 166(5): 787-801.e11, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244726
2.
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.
CA Cancer J Clin
; 68(3): 217-231, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29485237
3.
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.
Nucleic Acids Res
; 51(12): 6307-6320, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224528
4.
Comparative molecular genomic analyses of a spontaneous rhesus macaque model of mismatch repair-deficient colorectal cancer.
PLoS Genet
; 18(4): e1010163, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446842
5.
PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Genes Chromosomes Cancer
; 63(1): e23193, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534630
6.
Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H.
Genes Chromosomes Cancer
; 63(3): e23231, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459936
7.
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Int J Cancer
; 154(8): 1455-1463, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38175816
8.
Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.
Cancer
; 130(3): 385-399, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751191
9.
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Am J Hum Genet
; 108(1): 163-175, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33357406
10.
Province-Wide Ascertainment of Lynch Syndrome in Manitoba.
Clin Gastroenterol Hepatol
; 22(3): 642-652.e2, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879520
11.
Lynch Syndrome Genetics and Clinical Implications.
Gastroenterology
; 164(5): 783-799, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706841
12.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
13.
BRAFV600E immunohistochemistry can reliably substitute BRAF molecular testing in the Lynch syndrome screening algorithm in colorectal cancer.
Histopathology
; 84(5): 877-887, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173291
14.
Deficient mismatch repair screening of advanced adenomas in the population screening program for colorectal cancer is not effective.
Histopathology
; 84(6): 1056-1060, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38275207
15.
Sarcoma in patients with Lynch syndrome and response to immunotherapy.
J Surg Oncol
; 129(4): 820-826, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38151827
16.
Tumor board presentation of a woman with metastatic, hormone receptor-positive, mismatch repair-deficient endometrial cancer.
CA Cancer J Clin
; 72(2): 102-111, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077576
17.
Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients.
BMC Gastroenterol
; 24(1): 82, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395750
18.
Systems approach to enhance Lynch syndrome diagnosis through tumour testing.
J Med Genet
; 60(6): 533-539, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115663
19.
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
J Med Genet
; 60(5): 450-459, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113988
20.
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
J Med Genet
; 60(8): 747-759, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593122