Publications:

NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K

Publication Date: 2022-11-08

Variant appearance in text: TERT: R381P

PubMed Link: 36346689

Variant Present in the following documents:

• ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: TERT: R381P

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Plos One

Vulliamy, Tom J TJ; Kirwan, Michael J MJ; Beswick, Richard R; Hossain, Upal U; Baqai, Charlotte C; Ratcliffe, Anna A; Marsh, Judith J; Walne, Amanda A; Dokal, Inderjeet I

Publication Date: 2011

Variant appearance in text: TERT: Arg381Pro

PubMed Link: 21931702

Variant Present in the following documents:

• Main text
• pone.0024383.pdf

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