Publications:

Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathways.

Cold Spring Harbor Molecular Case Studies

Lavoie, Jean-Michel JM; Csizmok, Veronika V; Williamson, Laura M LM; Culibrk, Luka L; Wang, Gang G; Marra, Marco A MA; Laskin, Janessa J; Jones, Steven J M SJM; Renouf, Daniel J DJ; Kollmannsberger, Christian K CK

Publication Date: 2022-04

Variant appearance in text: TERT: 1339C>T; Arg447Cys; rs1304418053

PubMed Link: 35483882

Variant Present in the following documents:

• Main text
• MCS006148Lav.pdf

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: TERT: 1339C>T; R447C

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet Journal Of Rare Diseases

Arias-Salgado, Elena G EG; Galvez, Eva E; Planas-Cerezales, Lurdes L; Pintado-Berninches, Laura L; Vallespin, Elena E; Martinez, Pilar P; Carrillo, Jaime J; Iarriccio, Laura L; Ruiz-Llobet, Anna A; Catalá, Albert A; Badell-Serra, Isabel I; Gonzalez-Granado, Luis I LI; Martín-Nalda, Andrea A; Martínez-Gallo, Mónica M; Galera-Miñarro, Ana A; Rodríguez-Vigil, Carmen C; Bastos-Oreiro, Mariana M; Perez de Nanclares, Guiomar G; Leiro-Fernández, Virginia V; Uria, Maria-Luz ML; Diaz-Heredia, Cristina C; Valenzuela, Claudia C; Martín, Sara S; López-Muñiz, Belén B; Lapunzina, Pablo P; Sevilla, Julian J; Molina-Molina, María M; Perona, Rosario R; Sastre, Leandro L

Publication Date: 2019-04-17

Variant appearance in text: TERT: R447C

PubMed Link: 30995915

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1046.pdf

View BVdb publication page