Detalhe da pesquisa
1.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
2.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906215
3.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24569164
4.
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Breast Cancer Res Treat
; 155(2): 253-60, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26780556
5.
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
Hum Mutat
; 35(3): 271-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24227591
6.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24212087
7.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412388
8.
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Breast Cancer Res Treat
; 132(3): 979-92, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21735045
9.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat
; 132(3): 1009-23, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21769658
10.
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Breast Cancer Res Treat
; 130(1): 341-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21761158
11.
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
Sci Rep
; 11(1): 22948, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34824355
12.
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
Breast Cancer Res Treat
; 122(3): 733-43, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19894111
13.
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
J Mol Diagn
; 22(12): 1453-1468, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33011440
14.
High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome.
J Thorac Oncol
; 15(7): 1232-1239, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179180
15.
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.
Gastroenterology
; 134(1): 56-64, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18166348
16.
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Front Genet
; 9: 366, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30233647
17.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Sci Rep
; 7: 37984, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050010
18.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Eur J Hum Genet
; 21(8): 864-70, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23249957
19.
MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.
Eur J Hum Genet
; 20(7): 762-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22274583
20.
APC inactivation associates with abnormal mitosis completion and concomitant BUB1B/MAD2L1 up-regulation.
Gastroenterology
; 132(7): 2448-58, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17570218