Detalhe da pesquisa
1.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280026
2.
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
J Med Genet
; 56(2): 63-74, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472649
3.
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Hum Mutat
; 40(12): 2296-2317, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343793
4.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112341
5.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294896
6.
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Breast Cancer Res Treat
; 174(2): 543-550, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552643
7.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30204945
8.
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
J Mol Diagn
; 26(1): 17-28, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865290
9.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Eur J Hum Genet
; 31(2): 223-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446894
10.
Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient Stratification.
Cancer Res
; 82(8): 1646-1657, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35425960
11.
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Cancers (Basel)
; 13(13)2021 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34283047
12.
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Cancer Genet
; 258-259: 10-17, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237702
13.
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.
NPJ Breast Cancer
; 7(1): 52, 2021 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33980861
14.
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
15.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
J Cancer Res Clin Oncol
; 144(12): 2495-2513, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30306255
16.
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.
EMBO Mol Med
; 10(12)2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377213