Detalhe da pesquisa
1.
Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome.
Clin Gastroenterol Hepatol
; 22(3): 662-665.e1, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714395
2.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37969032
3.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
4.
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
Lancet Oncol
; 22(12): 1787-1798, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780712
5.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
6.
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Breast Cancer Res Treat
; 189(2): 533-539, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196900
7.
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
Am J Med Genet A
; 182(4): 866-876, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913576
8.
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
9.
Correction to: Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Breast Cancer Res Treat
; 191(1): 227, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751853
10.
AN AGGRESSIVE TEMPORAL BONE SDHC PARAGANGLIOMA ASSOCIATED WITH INCREASED HIF-2α SIGNALING.
Endocr Pract
; 22(2): 190-5, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492543
11.
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
12.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
HGG Adv
; 5(1): 100242, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777824
13.
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
J Clin Oncol
; 40(14): 1529-1541, 2022 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077220
14.
Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.
Cancer Epidemiol Biomarkers Prev
; 31(9): 1769-1779, 2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35700037
15.
Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.
JCO Precis Oncol
; 52021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34805717
16.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
JNCI Cancer Spectr
; 5(2)2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34308104
17.
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Cancer Res
; 80(2): 354-360, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719101
18.
Subsequent Neoplasm Risk Associated With Rare Variants in DNA Damage Response and Clinical Radiation Sensitivity Syndrome Genes in the Childhood Cancer Survivor Study.
JCO Precis Oncol
; 42020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923912
19.
A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.
Cancer Epidemiol Biomarkers Prev
; 28(2): 293-302, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30692095
20.
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