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Eric Seidel, Gudrun Walenda, Clemens Messerschmidt, Benedikt Obermayer, Mirko Peitzsch, Paal Wallace, Rohini Bahethi, Taekyeong Yoo, Murim Choi, Petra Schrade, Sebastian Bachmann, Gerhard Liebisch, Graeme Eisenhofer, Dieter Beule and Ute I Scholl

DW Lee S Kim Y Kim TM . Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing . Scientific Reports 2017 14508 . (

Open access

Ana P Estrada-Flórez, Mabel E Bohórquez, Alejandro Vélez, Carlos S Duque, Jorge H Donado, Gilbert Mateus, Cesar Panqueba-Tarazona, Guadalupe Polanco-Echeverry, Ruta Sahasrabudhe, Magdalena Echeverry and Luis G Carvajal-Carmona

Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan–Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10−5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between genotypes. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population.

Open access

Benjamin G Challis, Andrew S Powlson, Ruth T Casey, Carla Pearson, Brian Y Lam, Marcella Ma, Deborah Pitfield, Giles S H Yeo, Edmund Godfrey, Heok K Cheow, V Krishna Chatterjee, Nicholas R Carroll, Ashley Shaw, John R Buscombe and Helen L Simpson

, and associated with multiple endocrine neoplasia (MEN)-1 ( 1 ). Although single-copy deletion and somatic mutations in Menin have been identified in some sporadic insulinoma, it is now recognised that a recurrent somatic mutation in the transcription

Open access

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman and Peyman Björklund

of underlying molecular mechanisms in the tumorigenesis of these diseases has increased dramatically during the last decade (1) . Up to 80% of all PCC and PGL could have either germline or somatic mutations (2, 3, 4) in one of the 11 hitherto known

Open access

June Young Choi, Jin Wook Yi, Jun Hyup Lee, Ra-Yeong Song, Hyeongwon Yu, Hyungju Kwon, Young Jun Chai, Su-jin Kim and Kyu Eun Lee

, somatic mutations and gene expression data derived from RNA sequencing. Pathologic data were re-evaluated using scanned images of the paper-written pathologic documents provided by TCGA-associated hospitals. PTC subtype classification and MACIS scores were

Open access

Maria Mizamtsidi, Constantinos Nastos, George Mastorakos, Roberto Dina, Ioannis Vassiliou, Maria Gazouli and Fausto Palazzo

1A (P21) are members of the CDK inhibitor proteins. Studies have shown that sporadic parathyroid carcinomas have decreased P27 and P21 expression ( 43 ), while low-frequency germline and somatic mutations have also been reported in patients with

Open access

Barbora Pekova, Sarka Dvorakova, Vlasta Sykorova, Gabriela Vacinova, Eliska Vaclavikova, Jitka Moravcova, Rami Katra, Petr Vlcek, Pavla Sykorova, Daniela Kodetova, Josef Vcelak and Bela Bendlova

only in clinical-pathological features, but also in genetic alterations. Main PTC-activating somatic mutations in the RAS , BRAF and TERT genes and RET/PTC rearrangements cause uncontrolled activation of MAPK and PI3K signaling pathways. It was

Open access

Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

address the progression from well-differentiated thyroid carcinoma (WDTC) to PDTC. BRAF , TP53 , RAS While tumour-initiating somatic mutations leading to papillary thyroid carcinoma have been researched to a great extent, it remains uncertain

Open access

Lauren E Henke, John D Pfeifer, Thomas J Baranski, Todd DeWees and Perry W Grigsby

pathologic markers, such as histologic subtype or somatic mutation profile, which might stratify patients at risk for these poor long-term outcomes. The majority of PTC cases comprise two histologic subtypes: classic papillary (CP) and follicular variant

Open access

Anna-Pauliina Iivonen, Johanna Känsäkoski, Atte Karppinen, Leena Kivipelto, Camilla Schalin-Jäntti, Auli Karhu and Taneli Raivio

Sanger-sequenced all coding exons and exon–intron boundaries of these genes from the patient genomic DNA. KCNQ1 and KCNE2 were also screened for somatic mutations in the eight previously whole-genome sequenced samples. No somatic hits were detected