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.
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk.
J Med Genet
; 60(11): 1035-1043, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076288
5.
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
6.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270769
7.
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Hered Cancer Clin Pract
; 22(1): 6, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741120
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
; 20(1): 36, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182917
17.
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
18.
The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
Int J Cancer
; 148(4): 800-811, 2021 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683684
19.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Gastroenterology
; 159(1): 227-240.e7, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179092
20.
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