Detalhe da pesquisa
1.
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
2.
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
J Med Genet
; 59(12): 1189-1195, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038258
3.
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Breast Cancer Res
; 24(1): 69, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271417
4.
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer.
Genes Chromosomes Cancer
; 2020 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32615015
5.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330337
6.
Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Breast Cancer Res
; 24(1): 82, 2022 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36419099
7.
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
8.
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.
Gastroenterology
; 149(4): 897-906.e19, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26072394
9.
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
J Med Genet
; 51(4): 245-53, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501230
10.
Germ-line and somatic DICER1 mutations in pineoblastoma.
Acta Neuropathol
; 128(4): 583-95, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25022261
11.
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
J Mol Diagn
; 26(2): 106-114, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38061582
12.
Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study.
Gut
; 59(8): 1094-100, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19710031
13.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Hum Mutat
; 31(5): 578-87, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186688
14.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Cancers (Basel)
; 11(8)2019 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31382694
15.
Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.
Fam Cancer
; 6(3): 311-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17318340
16.
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Eur J Hum Genet
; 25(11): 1246-1252, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28875981