Detalhe da pesquisa
1.
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
J Genet Couns
; 32(4): 778-787, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748747
2.
Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.
Genet Med
; 23(8): 1450-1457, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824504
3.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
4.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906215
5.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Gastroenterology
; 154(1): 181-194.e20, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28912018
6.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.
Mol Cancer
; 17(1): 23, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29448935
7.
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Int J Cancer
; 141(7): 1365-1380, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577310
8.
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Hum Mol Genet
; 23(13): 3506-12, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501277
9.
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Gastroenterology
; 149(3): 563-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26052075
10.
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Genet Med
; 18(4): 325-32, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26133394
11.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412388
12.
Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital.
Cancer Epidemiol
; 82: 102291, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410089
13.
Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.
Gut
; 64(2): 355-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24691292
14.
Evaluation of stress, burnout and hair cortisol levels in health workers at a University Hospital during COVID-19 pandemic.
Psychoneuroendocrinology
; 128: 105213, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33845387
15.
Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. Cancers 2020, 12, 3419.
Cancers (Basel)
; 13(13)2021 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34206709
16.
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
J Mol Diagn
; 23(11): 1452-1459, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34454113
17.
Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals.
Cancers (Basel)
; 12(11)2020 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33218006
18.
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Cancers (Basel)
; 12(7)2020 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32635641
19.
Mosaicism in PTEN-new case and comment on the literature.
Eur J Hum Genet
; 30(6): 641-644, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102303
20.
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
Fam Cancer
; 16(4): 501-507, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365877