Publications:

Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.

Scientific Reports

Xu, Jialin J; de Oliveira, Diego Madureira DM; Trudeau, Matthew A MA; Yang, Yang Y; Chin, Jessica J Y JJY; Sin, Don D DD; Sandford, Andrew J AJ; Wong, Judy M Y JMY

Publication Date: 2021-02-22

Variant appearance in text: TERT: A615T; rs112614087

PubMed Link: 33619289

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83686.pdf
• 41598_2021_83686_MOESM1_ESM.pdf

View BVdb publication page

Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: TERT: Ala615Thr

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

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Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Breast Cancer Research : Bcr

Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2018-01-09

Variant appearance in text: TERT: 1843G>A; Ala615Thr; rs112614087

PubMed Link: 29316957

Variant Present in the following documents:

• 13058_2017_929_MOESM1_ESM.xlsx, sheet 3

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: TERT: A615T

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page