Detalhe da pesquisa
1.
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Bioinformatics
; 39(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916756
2.
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
3.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
4.
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
5.
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
6.
Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium. / Uso de paneles de genes en pacientes con alto riesgo de cáncer digestivo hereditario: documento de posicionamiento de la AEG, SEOM, AEGH y consorcio IMPaCT-GENÓMICA.
Gastroenterol Hepatol
; 47(3): 293-318, 2024 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37315767
7.
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
8.
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
9.
MLH1-methylated endometrial cancer under 60 years of age as the "sentinel" cancer in female carriers of high-risk constitutional MLH1 epimutation.
Gynecol Oncol
; 171: 129-140, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36893489
10.
Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger.
J Natl Compr Canc Netw
; 21(7): 743-752.e11, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433431
11.
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
12.
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
13.
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
14.
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
Bioinformatics
; 37(22): 4227-4229, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983414
15.
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
16.
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
17.
Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.
Mod Pathol
; 34(5): 994-1007, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33328602
18.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Genet Med
; 23(4): 705-712, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257847
19.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280026
20.
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