Detalhe da pesquisa
1.
Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk.
Mol Genet Genomics
; 298(3): 555-566, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856825
2.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
3.
Small RNA expression from viruses, bacteria and human miRNAs in colon cancer tissue and its association with microsatellite instability and tumor location.
BMC Cancer
; 19(1): 161, 2019 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30786859
4.
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Clin Genet
; 92(4): 405-414, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28195393
5.
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.
Hered Cancer Clin Pract
; 12(1): 12, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24790682
6.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778080
7.
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
BMC Med Genomics
; 16(1): 126, 2023 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296477
8.
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Genes (Basel)
; 14(2)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833189
9.
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.
Sci Rep
; 13(1): 18783, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37914736
10.
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Eur J Hum Genet
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030917
11.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Fam Cancer
; 21(4): 389-398, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981296
12.
Patient and tumor characteristics may raise clinicians' awareness of familial colorectal cancer: a Norwegian population-based study.
Scand J Gastroenterol
; 46(10): 1236-42, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21679123
13.
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
J Med Genet
; 47(9): 579-85, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20587412
14.
The Prognostic Value of Methylation Signatures and NF2 Mutations in Atypical Meningiomas.
Cancers (Basel)
; 13(6)2021 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33809258
15.
Detecting copy number variation in next generation sequencing data from diagnostic gene panels.
BMC Med Genomics
; 14(1): 214, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34465341
16.
Discrimination of patients with microsatellite instability colon cancer using 1H HR MAS MR spectroscopy and chemometric analysis.
J Proteome Res
; 9(7): 3664-70, 2010 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-20507057
17.
sMETASeq: Combined Profiling of Microbiota and Host Small RNAs.
iScience
; 23(5): 101131, 2020 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32422595
18.
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.
PLoS One
; 15(7): e0235613, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634176
19.
Update on genetic predisposition to colorectal cancer and polyposis.
Mol Aspects Med
; 69: 10-26, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862463
20.
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Mol Genet Genomic Med
; 7(8): e850, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31297992