Detalhe da pesquisa
1.
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
Hered Cancer Clin Pract
; 21(1): 11, 2023 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37400873
2.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
; 22(1): 706, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761208
3.
Germline testing for homologous recombination repair genes-opportunities and challenges.
Genes Chromosomes Cancer
; 60(5): 332-343, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33078493
4.
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
Cancer
; 126(17): 4032-4041, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557628
5.
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
BMC Cancer
; 19(1): 787, 2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395037
6.
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Lancet Oncol
; 19(6): 785-798, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753700
7.
Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
Int J Cancer
; 143(6): 1416-1425, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659014
8.
Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making - A Selected Case Series.
Klin Padiatr
; 230(6): 305-313, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29996150
9.
The association between breast cancer and S100P methylation in peripheral blood by multicenter case-control studies.
Carcinogenesis
; 38(3): 312-320, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28426874
10.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130695
11.
DNA methylation array analyses identified breast cancer-associated HYAL2 methylation in peripheral blood.
Int J Cancer
; 136(8): 1845-55, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25213452
12.
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Breast Cancer Res
; 16(6): 3419, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25857409
13.
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
Int J Cancer
; 144(7): 1761-1763, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30474284
14.
Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Breast Cancer Res Treat
; 145(2): 451-60, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24728577
15.
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
Am J Med Genet A
; 164A(12): 3088-94, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256811
16.
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
Am J Med Genet A
; 164A(12): 3061-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256099
17.
Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry.
Eur J Cancer
; 180: 71-84, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542877
18.
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nat Med
; 29(4): 917-926, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928815
19.
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Neuro Oncol
; 25(12): 2273-2286, 2023 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37379234
20.
Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers.
Int J Cancer
; 130(6): 1314-8, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21484799