Detalhe da pesquisa
1.
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Genet Med
; 21(8): 1868-1873, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573798
2.
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis.
J Surg Oncol
; 113(2): 209-12, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663236
3.
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer.
Genes Chromosomes Cancer
; 54(12): 776-87, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26305882
4.
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Gastroenterology
; 147(3): 595-598.e5, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24941021
5.
Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis.
Genes Chromosomes Cancer
; 53(10): 857-64, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24946964
6.
PDPR Gene Variants Predisposing to Papillary Thyroid Cancer.
Thyroid
; 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062777
7.
CHEK2 Founder Variants and Thyroid Cancer Risk.
Thyroid
; 34(4): 477-483, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279823
8.
Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.
Breast Cancer Res
; 14(3): R90, 2012 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22691310
9.
Reply: To PMID 24941021.
Gastroenterology
; 148(1): 259, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25451653
10.
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Mol Genet Genomic Med
; 9(5): e1641, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33943044
11.
Updates in the field of hereditary nonpolyposis colorectal cancer.
Expert Rev Gastroenterol Hepatol
; 14(8): 707-720, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32755332
12.
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
Thyroid
; 30(2): 204-213, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31928178
13.
Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.
Thyroid
; 30(3): 380-388, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32024448
14.
Identification of Rare Variants Predisposing to Thyroid Cancer.
Thyroid
; 29(7): 946-955, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30957677
15.
Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.
Leukemia
; 37(11): 2301-2305, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37696923
16.
BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.
Gastroenterology
; 141(1): e23-6, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21640116
17.
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Oncotarget
; 8(64): 108020-108030, 2017 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29296220
18.
Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.
Oncotarget
; 7(43): 70685-70698, 2016 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683109
19.
Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin.
Cancer Epidemiol Biomarkers Prev
; 21(1): 202-11, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22028395
20.
Molecular analysis of endometrial tumorigenesis: importance of complex hyperplasia regardless of atypia.
Clin Cancer Res
; 15(18): 5772-83, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19723644