Detalhe da pesquisa
1.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38362852
2.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270769
3.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
Gastric Cancer
; 26(5): 653-666, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249750
4.
Clonal Hematopoiesis Is Associated With Low CD4 Nadir and Increased Residual HIV Transcriptional Activity in Virally Suppressed Individuals With HIV.
J Infect Dis
; 225(8): 1339-1347, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417800
5.
Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.
Clin Gastroenterol Hepatol
; 19(8): 1642-1651.e8, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32585361
6.
Mutational signature analysis in non-small cell lung cancer patients with a high tumor mutational burden.
Respir Res
; 22(1): 302, 2021 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34819052
7.
Two types of primary mucinous ovarian tumors can be distinguished based on their origin.
Mod Pathol
; 33(4): 722-733, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31695154
8.
Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.
Int J Mol Sci
; 21(22)2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228212
9.
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
J Pathol
; 244(2): 135-142, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29105096
10.
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
PLoS Genet
; 12(2): e1005880, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26901136
11.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.
Mol Cancer
; 17(1): 23, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29448935
12.
Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer.
Gastroenterology
; 162(3): 969-974.e6, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34767783
13.
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.
Gastroenterology
; 163(6): 1691-1694.e7, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36037994
14.
Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair-Deficient Lynch-Like Tumors.
Gastroenterology
; 160(4): 1414-1416.e3, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33253688
15.
Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
Genes Chromosomes Cancer
; 55(11): 855-63, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27239782
16.
Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer.
Gastroenterology
; 159(6): 2241-2243.e6, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32860789
17.
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
J Pathol
; 236(2): 155-64, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712196
18.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
Gastroenterology
; 145(3): 544-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23747338
19.
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
Eur J Hum Genet
; 32(2): 200-208, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853102
20.
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
J Natl Cancer Inst
; 115(7): 853-860, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37018159