Detalhe da pesquisa
1.
Population-specific validation and comparison of the performance of 77- and 313-variant polygenic risk scores for breast cancer risk prediction.
Cancer
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718029
2.
Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition.
Folia Biol (Praha)
; 70(1): 62-73, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38830124
3.
Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?
Int J Mol Sci
; 24(23)2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069345
4.
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
Int J Mol Sci
; 24(6)2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982687
5.
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
Int J Cancer
; 145(7): 1782-1797, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050813
6.
Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.
Lancet Oncol
; 16(16): 1639-50, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26603945
7.
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast
; 75: 103721, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554551
8.
Germline multigene panel testing of patients with endometrial cancer.
Oncol Lett
; 25(6): 216, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37153042
9.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clin Cancer Res
; 29(16): 3037-3050, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449874
10.
Comprehensive quantitative analysis of alternative splicing variants reveals the HNF1B mRNA splicing pattern in various tumour and non-tumour tissues.
Sci Rep
; 12(1): 199, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997048
11.
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
Cancers (Basel)
; 15(1)2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36612198
12.
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.
Hormones (Athens)
; 20(4): 803-812, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34142359
13.
Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
Klin Onkol
; 34(1): 26-32, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33657816
14.
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Cancers (Basel)
; 13(17)2021 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34503238
15.
CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.
Cells
; 9(12)2020 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33322746
16.
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.
Front Genet
; 11: 561054, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33133147
17.
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Biomedicines
; 8(10)2020 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33050356
18.
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
Cancers (Basel)
; 12(4)2020 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32295079
19.
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
20.
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
J Clin Oncol
; 38(7): 674-685, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31841383