Publications:

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: NOTCH1: R1982W

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

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Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Journal Of Thoracic Disease

Chen, Zhao-Ran ZR; Bao, Ming-Hui MH; Wang, Xing-Yu XY; Yang, Yan-Min YM; Huang, Bi B; Han, Zhong-Li ZL; Cai, Jun J; Fan, Xiao-Han XH

Publication Date: 2021-07

Variant appearance in text: NOTCH1: R1982W

PubMed Link: 34422331

Variant Present in the following documents:

• Main text
• jtd-13-07-4008.pdf
• jtd-13-07-4008-supplementary.pdf

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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: NOTCH1: R1982W

PubMed Link: 29296220

Variant Present in the following documents:

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

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