Detalhe da pesquisa
1.
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
J Med Genet
; 61(3): 284-288, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748860
2.
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
J Med Genet
; 60(5): 460-463, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270768
3.
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Clin Genet
; 104(1): 107-113, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974006
4.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
5.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
6.
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
7.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
8.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
9.
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
10.
Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas.
Int J Cancer
; 138(4): 891-900, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26317927
11.
Germline BAP1 mutations predispose to renal cell carcinomas.
Am J Hum Genet
; 92(6): 974-80, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684012
12.
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
13.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Breast
; 73: 103620, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096711
14.
Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas.
Int J Cancer
; 133(12): 2834-42, 2013 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754601
15.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Hum Mol Genet
; 20(23): 4732-47, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890493
16.
Germline mutation in the RAD51B gene confers predisposition to breast cancer.
BMC Cancer
; 13: 484, 2013 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24139550
17.
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
18.
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
Hum Mutat
; 32(3): 325-34, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21120943
19.
5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
Cancers (Basel)
; 13(13)2021 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202044
20.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Cancers (Basel)
; 12(2)2020 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991861