Detalhe da pesquisa
1.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130695
2.
The hidden genomic landscape of acute myeloid leukemia: subclonal structure revealed by undetected mutations.
Blood
; 125(4): 600-5, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25499761
3.
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
Breast Cancer Res Treat
; 160(1): 121-129, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624329
4.
De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?
Tumori
; 110(1): 69-73, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691472
5.
An autoinflammatory neurological disease due to interleukin 6 hypersecretion.
J Neuroinflammation
; 10: 29, 2013 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23432807
6.
The lymphoma-associated NPM-ALK oncogene elicits a p16INK4a/pRb-dependent tumor-suppressive pathway.
Blood
; 117(24): 6617-26, 2011 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21518927
7.
Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability.
PLoS Biol
; 8(1): e1000275, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052272
8.
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
Hum Mutat
; 33(12): 1665-75, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753153
9.
Alterations of the Notch pathway in lung cancer.
Proc Natl Acad Sci U S A
; 106(52): 22293-8, 2009 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20007775
10.
OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.
Biomedicines
; 10(5)2022 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35625944
11.
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.
Breast Cancer Res Treat
; 125(3): 855-60, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20652397
12.
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Cancers (Basel)
; 13(3)2021 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33573335
13.
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Tumori
; 105(4): 338-352, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31068090
14.
Delocalization and destabilization of the Arf tumor suppressor by the leukemia-associated NPM mutant.
Cancer Res
; 66(6): 3044-50, 2006 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16540653
15.
Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
Front Oncol
; 8: 480, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410870
16.
In vitro and in vivo hematopoietic potential of human stem cells residing in muscle tissue.
Exp Hematol
; 30(8): 905-14, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12160842
17.
Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype.
Cancer Genet
; 208(4): 152-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25850996
18.
Deep sequencing of the X chromosome reveals the proliferation history of colorectal adenomas.
Genome Biol
; 15(8): 437, 2014 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25175524
19.
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
Fam Cancer
; 11(3): 483-91, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692731
20.
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Cancer Epidemiol Biomarkers Prev
; 21(1): 134-47, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22144499