Detalhe da pesquisa
1.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
; 39(5): 729-741, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460995
2.
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
3.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060066
4.
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
5.
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
Genet Med
; 16(9): 688-94, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556926
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.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Hum Mutat
; 34(10): 1424-31, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23893897
8.
First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
BMC Cancer
; 13: 46, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23374397
9.
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.
Front Oncol
; 13: 1102184, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37025588
10.
Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report.
Front Oncol
; 13: 1306238, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37936611
11.
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Front Genet
; 13: 820878, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35356420
12.
Malignant salivary gland tumours in families with breast cancer susceptibility.
Virchows Arch
; 479(1): 221-226, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34100114
13.
BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.
Cancers (Basel)
; 12(12)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266155
14.
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Mutat Res
; 660(1-2): 1-11, 2009 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18992264
15.
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.
Cancers (Basel)
; 11(2)2019 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696104
16.
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Cancers (Basel)
; 11(3)2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30832263
17.
Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases.
Mod Pathol
; 21(10): 1262-70, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18327210
18.
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.
Eur J Intern Med
; 32: 65-71, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27062684
19.
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
PLoS One
; 9(2): e86924, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516540
20.
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
PLoS One
; 8(2): e57173, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23451180