Detalhe da pesquisa
1.
Intratumoral presence of the genotoxic gut bacteria pks+ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer.
Br J Cancer
; 130(5): 728-740, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38200234
2.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37101184
3.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.
Gut
; 70(11): 2138-2149, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33414168
4.
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
Fam Cancer
; 23(1): 9-21, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38063999
5.
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
medRxiv
; 2024 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37090539
6.
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.
Fam Cancer
; 22(4): 423-428, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37318702
7.
Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status.
J Mol Diagn
; 25(2): 94-109, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36396080
8.
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Clin Epigenetics
; 15(1): 95, 2023 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37270516
9.
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Cancers (Basel)
; 15(20)2023 Oct 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37894291
10.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
medRxiv
; 2023 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36909643
11.
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Fam Cancer
; 21(4): 399-413, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34817745
12.
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Nat Commun
; 13(1): 3254, 2022 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35668106
13.
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.
J Mol Diagn
; 23(3): 358-371, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33383211