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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37800450
2.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Br J Surg
; 111(5)2024 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38722804
3.
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.
J Med Genet
; 60(11): 1044-1051, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37321833
4.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36270769
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36436516
6.
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Hum Mol Genet
; 30(14): 1273-1282, 2021 06 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33822054
7.
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.
Hered Cancer Clin Pract
; 21(1): 19, 2023 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37821984
8.
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.
Int J Cancer
; 150(1): 56-66, 2022 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34469588
9.
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.
Genet Med
; 24(3): 576-585, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906469
10.
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.
Acta Neuropathol
; 144(6): 1143-1156, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36181537
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36182917
12.
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Int J Cancer
; 149(12): 2052-2062, 2021 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-34331771
13.
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Int J Cancer
; 148(1): 106-114, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32930401
14.
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Gastroenterology
; 158(5): 1326-1333, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31926173
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33257847
16.
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
Acta Neuropathol
; 142(1): 191-210, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33929593
17.
No evidence to support the impact of migration background on treatment response rates and cancer survival: a retrospective matched-pair analysis in Germany.
BMC Cancer
; 21(1): 526, 2021 May 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33971845
18.
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Int J Cancer
; 147(10): 2801-2810, 2020 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32875553
19.
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Genet Med
; 22(9): 1524-1532, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32398773
20.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(9): 1569, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32690931