Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597585
2.
Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.
Int J Mol Sci
; 23(2)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054852
3.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
4.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
5.
Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
Nucleic Acids Res
; 42(14): 9121-30, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25034697
6.
Occurrence of a non deleterious gene conversion event in the BRCA1 gene.
Genes Chromosomes Cancer
; 54(10): 646-52, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26171949
7.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321405
8.
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.
Cancers (Basel)
; 15(13)2023 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37444530
9.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Eur J Cancer
; 179: 76-86, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36509001
10.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat
; 33(8): 1228-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505045
11.
Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.
Genes (Basel)
; 12(11)2021 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828342
12.
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
Am J Hum Genet
; 81(6): 1186-200, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17999359
13.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981
14.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer Res
; 80(17): 3593-3605, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641407
15.
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Oncotarget
; 9(25): 17334-17348, 2018 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707112
16.
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Front Oncol
; 8: 490, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430080
17.
BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.
Clin Cancer Res
; 18(18): 4903-9, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753590
18.
Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France.
Genes Chromosomes Cancer
; 43(4): 404-13, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15887246
19.
Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.
Int J Cancer
; 106(4): 588-593, 2003 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-12845657
20.
Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility.
Carcinogenesis
; 25(12): 2417-24, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15333468