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1.
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
2.
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
3.
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
4.
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
5.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Am J Hum Genet
; 99(2): 337-51, 2016 Aug 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27476653
6.
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
7.
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Hered Cancer Clin Pract
; 17: 5, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30680046
8.
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
9.
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
10.
Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome.
J Pathol
; 243(2): 242-254, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28727142
11.
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
J Med Genet
; 53(3): 172-9, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26613750
12.
Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer.
Gut
; 65(8): 1296-305, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-26001389
13.
Prophylactic total gastrectomy in the management of hereditary tumor syndromes.
Int J Colorectal Dis
; 31(12): 1825-1833, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27682646
14.
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
Carcinogenesis
; 36(2): 202-11, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25477341
15.
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
Int J Cancer
; 137(2): 320-31, 2015 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25529843
16.
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Int J Cancer
; 136(6): E578-89, 2015 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25219767
17.
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.
Int J Cancer
; 135(1): 69-77, 2014 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24493211
18.
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
J Clin Med
; 10(13)2021 Jun 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34203177
19.
Global histone acetylation levels: prognostic relevance in patients with renal cell carcinoma.
Cancer Sci
; 101(12): 2664-9, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20825416
20.
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Fam Cancer
; 15(2): 281-8, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26780541