Detalhe da pesquisa
1.
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Gut
; 70(6): 1139-1146, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998877
2.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Gastroenterology
; 159(1): 227-240.e7, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179092
3.
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Hum Mutat
; 41(9): 1563-1576, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32449991
4.
Role of POLE and POLD1 in familial cancer.
Genet Med
; 22(12): 2089-2100, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792570
5.
Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
Hum Mutat
; 40(11): 1910-1923, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243857
6.
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.
Gut
; 67(12): 2230-2232, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330307
7.
Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities.
J Clin Oncol
; 41(1): 11-21, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35944238
8.
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.
Clin Cancer Res
; 29(2): 422-431, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36346689
9.
Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.
Clin Gastroenterol Hepatol
; 15(3): 461-462, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27720914
10.
Multiple Primary Cancers in Patients Undergoing Tumor-Normal Sequencing Define Novel Associations.
Cancer Epidemiol Biomarkers Prev
; 31(2): 362-371, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34810208
11.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
; 5(1): 1061, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203093
12.
Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
Cancer Epidemiol Biomarkers Prev
; 31(7): 1450-1459, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477182
13.
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.
Sci Rep
; 11(1): 11401, 2021 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059744
14.
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Cancers (Basel)
; 12(4)2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235514
15.
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
Sci Rep
; 9(1): 9020, 2019 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227763
16.
Germline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer.
Cancer Lett
; 447: 86-92, 2019 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677446