Detalles de la búsqueda
1.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36586540
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.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36572524
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38741120
5.
Is HLA type a possible cancer risk modifier in Lynch syndrome?
Int J Cancer
; 152(10): 2024-2031, 2023 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36214792
6.
Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis.
N Engl J Med
; 383(11): 1028-1039, 2020 09 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32905675
7.
The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients.
Gastroenterology
; 162(3): 907-919.e10, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34863788
8.
Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018.
J Am Acad Dermatol
; 89(6): 1129-1135, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37031776
9.
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
10.
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
11.
The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
Int J Cancer
; 148(4): 800-811, 2021 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32683684
12.
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Lancet
; 395(10240): 1855-1863, 2020 06 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-32534647
13.
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
14.
Three decades of the Human Genome Organization.
Am J Med Genet A
; 185(11): 3314-3321, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34581472
15.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PLoS Genet
; 14(12): e1007752, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30586411
16.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Hum Mutat
; 41(1): 332-341, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31471937
17.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Genet Med
; 22(12): 2081-2088, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32773772
18.
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
19.
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(1): 15-25, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31337882
20.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740824