Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800450
2.
Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine.
Dis Colon Rectum
; 62(4): 429-437, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30730459
3.
SPDEF Induces Quiescence of Colorectal Cancer Cells by Changing the Transcriptional Targets of ß-catenin.
Gastroenterology
; 153(1): 205-218.e8, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390865
4.
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
J Med Genet
; 50(8): 552-63, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23709753
5.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746299
6.
Comprehensive functional assessment of MLH1 variants of unknown significance.
Hum Mutat
; 33(11): 1576-88, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22736432
7.
Allele-specific expression of APC in adenomatous polyposis families.
Gastroenterology
; 139(2): 439-47, 447.e1, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20434453
8.
Combination of Sulindac and Bexarotene for Prevention of Intestinal Carcinogenesis in Familial Adenomatous Polyposis.
Cancer Prev Res (Phila)
; 14(9): 851-862, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34266857
9.
Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.
Fam Cancer
; 19(4): 315-322, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32356167
10.
Functional characterization of CNOT3 variants identified in familial adenomatous polyposis adenomas.
Oncotarget
; 10(39): 3939-3951, 2019 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231471
11.
High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer.
Cancer Prev Res (Phila)
; 11(11): 679-686, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30274973
12.
Immune Profiling of Premalignant Lesions in Patients With Lynch Syndrome.
JAMA Oncol
; 4(8): 1085-1092, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29710228
13.
Can Microsatellite Status of Colorectal Cancer Be Reliably Assessed after Neoadjuvant Therapy?
Clin Cancer Res
; 23(17): 5246-5254, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28522602
14.
In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.
Cancer Prev Res (Phila)
; 10(10): 580-587, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28765196
15.
Mutational Heterogeneity in APC and KRAS Arises at the Crypt Level and Leads to Polyclonality in Early Colorectal Tumorigenesis.
Clin Cancer Res
; 23(19): 5936-5947, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28645942
16.
DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics.
J Clin Oncol
; 34(25): 3039-46, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27432916
17.
Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
Fam Cancer
; 15(4): 587-91, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27017610
18.
Genomic Landscape of Colorectal Mucosa and Adenomas.
Cancer Prev Res (Phila)
; 9(6): 417-27, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27221540
19.
[Mortality after hip fracture: a three year follow-up study]. / Mortalidad a los tres años de los pacientes con fractura de fémur.
Med Clin (Barc)
; 124(2): 53-4, 2005 Jan 22.
Artigo
em Espanhol
| MEDLINE | ID: mdl-15691433
20.
Establishing a diagnostic road map for MUTYH-associated polyposis.
Clin Cancer Res
; 20(5): 1061-3, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24486588