Detalhe da pesquisa
1.
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.
J Med Genet
; 60(11): 1044-1051, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37321833
2.
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.
J Med Genet
; 61(1): 69-77, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37591735
3.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
4.
SARS-CoV-2 omicron (B.1.1.529)-related COVID-19 sequelae in vaccinated and unvaccinated patients with cancer: results from the OnCovid registry.
Lancet Oncol
; 24(4): 335-346, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36898391
5.
Cost-effectiveness analysis of molecular testing in minimally invasive samples to detect endometrial cancer in women with postmenopausal bleeding.
Br J Cancer
; 129(2): 325-334, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165201
6.
Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome.
Mod Pathol
; 36(7): 100158, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36918055
7.
ZDHHC15 as a candidate gene for autism spectrum disorder.
Am J Med Genet A
; 191(4): 941-947, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565021
8.
Occupational exposure to pesticides and endometrial cancer in the Screenwide case-control study.
Environ Health
; 22(1): 77, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37919733
9.
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
J Med Genet
; 59(1): 75-78, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33219106
10.
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
11.
Outcomes of the SARS-CoV-2 omicron (B.1.1.529) variant outbreak among vaccinated and unvaccinated patients with cancer in Europe: results from the retrospective, multicentre, OnCovid registry study.
Lancet Oncol
; 23(7): 865-875, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660139
12.
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Clin Gastroenterol Hepatol
; 20(3): 611-621.e9, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157315
13.
Night work, chronotype and risk of endometrial cancer in the Screenwide case-control study.
Occup Environ Med
; 2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210289
14.
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Gut
; 70(6): 1139-1146, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998877
15.
Prevalence and impact of COVID-19 sequelae on treatment and survival of patients with cancer who recovered from SARS-CoV-2 infection: evidence from the OnCovid retrospective, multicentre registry study.
Lancet Oncol
; 22(12): 1669-1680, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741822
16.
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Hum Mutat
; 42(11): 1488-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420246
17.
Trajectories of alcohol consumption during life and the risk of developing breast cancer.
Br J Cancer
; 125(8): 1168-1176, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483338
18.
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
19.
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
20.
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