Detalhe da pesquisa
1.
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
Hum Mutat
; 40(1): 97-105, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352134
2.
Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome.
Curr Opin Oncol
; 30(1): 23-29, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29076966
3.
Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes.
Int J Cancer
; 138(8): 1928-35, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26620301
4.
ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.
Tumour Biol
; 37(3): 3145-53, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427657
5.
Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation.
Genet Mol Biol
; 39(2): 199-202, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27223487
6.
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
Hum Mutat
; 40(6): 832-833, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30997946
7.
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
BMC Med Genet
; 15: 55, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24884479
8.
Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Gene
; 898: 148069, 2024 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070788
9.
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.
JAMA Oncol
; 7(12): 1800-1805, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34709361
10.
Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis.
Cancer Res
; 78(18): 5375-5383, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30042151
11.
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Front Genet
; 9: 161, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29868112
12.
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Genome Med
; 10(1): 99, 2018 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30583724
13.
Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development.
J Mol Med (Berl)
; 95(5): 523-533, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28093616
14.
Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome.
Cancer Genet
; 208(6): 341-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25935441
15.
LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis.
Melanoma Res
; 25(2): 173-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25647737
16.
DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients.
Biomed Res Int
; 2015: 376423, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26106605
17.
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Eur J Hum Genet
; 22(3): 307-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23778870