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1.
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.
J Med Genet
; 60(8): 747-759, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36593122
2.
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.
J Med Genet
; 59(10): 976-983, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34911816
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
BMC Cancer
; 20(1): 460, 2020 May 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-32448342
11.
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Gastroenterology
; 155(5): 1400-1409.e2, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30063918
12.
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.
J Med Genet
; 55(4): 240-248, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29472279
13.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 8, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858900
14.
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
Gut
; 67(7): 1306-1316, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28754778
15.
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Int J Cancer
; 143(11): 2800-2813, 2018 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29987844
16.
Identification of genetic variants for clinical management of familial colorectal tumors.
BMC Med Genet
; 19(1): 26, 2018 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29458332
17.
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Hered Cancer Clin Pract
; 16: 4, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29371908
18.
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Gut
; 66(3): 464-472, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26657901
19.
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Gut
; 66(9): 1657-1664, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27261338
20.
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Int J Cancer
; 141(7): 1365-1380, 2017 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28577310