Detalhe da pesquisa
1.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes Chromosomes Cancer
; 63(5): e23237, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722212
2.
Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation.
Mod Pathol
; 37(3): 100423, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191122
3.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800450
4.
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients.
BMC Cancer
; 24(1): 104, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238650
5.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Mod Pathol
; 36(9): 100240, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37307877
6.
Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.
Gastroenterology
; 155(3): 844-851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758216
7.
APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism.
Gut
; 72(11): 2186-2187, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307181
8.
Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.
Gastroenterology
; 152(3): 546-549.e3, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816598
9.
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Br J Cancer
; 117(6): 1215-1223, 2017 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742792
10.
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Hum Mutat
; 37(11): 1162-1179, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435373
11.
Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age.
Genet Med
; 18(10): 966-73, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26938782
12.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med
; 18(4): 405-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110232
13.
Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.
Gynecol Oncol
; 143(3): 453-459, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789085
14.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
J Med Genet
; 51(1): 55-60, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253443
15.
Germline NPAT inactivating variants as cause of hereditary colorectal cancer.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778081
16.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746299
17.
Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.
Int J Cancer
; 132(7): 1556-64, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987364
18.
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Br J Cancer
; 118(2): e4, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361631
19.
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
Hered Cancer Clin Pract
; 11(1): 20, 2013 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373140
20.
Unexplained mismatch repair deficiency: Case closed.
HGG Adv
; 4(1): 100167, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624813