Detalhe da pesquisa
1.
Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.
Genet Med
; 26(2): 101032, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006283
2.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725546
3.
Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation.
J Genet Couns
; 2023 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605508
4.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
5.
BRCAness digitalMLPA profiling predicts benefit of intensified platinum-based chemotherapy in triple-negative and luminal-type breast cancer.
Breast Cancer Res
; 22(1): 79, 2020 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32711554
6.
Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
Int J Cancer
; 147(10): 2708-2716, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383162
7.
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Hum Mutat
; 37(7): 627-39, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913838
8.
Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial.
Genet Med
; 18(2): 137-44, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25905441
9.
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
PLoS Genet
; 9(3): e1003173, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23544012
10.
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
PLoS Genet
; 9(3): e1003212, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23544013
11.
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer.
Carcinogenesis
; 36(2): 256-71, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25586992
12.
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
J Med Genet
; 51(2): 98-107, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24285858
13.
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
PLoS Biol
; 9(11): e1001199, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22110403
14.
An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.
J Pathol
; 229(4): 621-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23208944
15.
Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.
J Med Genet
; 50(2): 74-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23231788
16.
Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice.
Nat Protoc
; 19(3): 700-726, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38092944
17.
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
PLoS Genet
; 6(10): e1001183, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060860
18.
Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation.
Fam Cancer
; 22(2): 151-154, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112334
19.
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Hum Mutat
; 33(1): 2-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990146
20.
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Hum Mutat
; 33(3): 561-71, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213089