Detalhe da pesquisa
1.
Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.
Mod Pathol
; 26(1): 131-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22918162
2.
Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing.
Nat Commun
; 14(1): 6895, 2023 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898613
3.
BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.
Breast Cancer Res Treat
; 130(3): 1051-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21863257
4.
cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation.
Mutat Res
; 663(1-2): 84-9, 2009 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-19070627
5.
Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.
Nat Med
; 23(6): 703-713, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28481359
6.
CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5' Splice Site.
PLoS One
; 11(11): e0165654, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27880784
7.
BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line.
PLoS One
; 10(4): e0119224, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25830670
8.
The germline CDH1 c.48 G>C substitution contributes to cancer predisposition through generation of a pro-invasive mutation.
Mutat Res
; 770: 106-11, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25771876
9.
Immunohistochemical detection of ARID1A in colorectal carcinoma: loss of staining is associated with sporadic microsatellite unstable tumors with medullary histology and high TNM stage.
Hum Pathol
; 45(12): 2430-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25311944
10.
Erratum: Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.
Nat Med
; 23(8): 1004, 2017 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777785
11.
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis.
J Clin Oncol
; 30(25): e229-32, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22826269