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: NF1: R1534Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

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Co-occurring Alterations in the RAS-MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer.

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

Rotow, Julia K JK; Gui, Philippe P; Wu, Wei W; Raymond, Victoria M VM; Lanman, Richard B RB; Kaye, Frederic J FJ; Peled, Nir N; Fece de la Cruz, Ferran F; Nadres, Brandon B; Corcoran, Ryan B RB; Yeh, Iwei I; Bastian, Boris C BC; Starostik, Petr P; Newsom, Kimberly K; Olivas, Victor R VR; Wolff, Alexander M AM; Fraser, James S JS; Collisson, Eric A EA; McCoach, Caroline E CE; Camidge, D Ross DR; Pacheco, Jose J; Bazhenova, Lyudmila L; Li, Tianhong T; Bivona, Trever G TG; Blakely, Collin M CM

Publication Date: 2020-01-15

Variant appearance in text: NF1: R1534Q

PubMed Link: 31548343

Variant Present in the following documents:

• Main text

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: NF1: 4601G>A; Arg1534Gln; rs867955218

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease.

British Journal Of Haematology

Egan, Jan B JB; Kortuem, K Martin KM; Kurdoglu, Ahmet A; Izatt, Tyler T; Aldrich, Jessica J; Reiman, Rebecca R; Phillips, Lori L; Baker, Angela A; Shi, Chang-Xin CX; Schmidt, Jessica J; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Stewart, A Keith AK

Publication Date: 2013-06

Variant appearance in text: NF1: R1534Q

PubMed Link: 23480694

Variant Present in the following documents:

• Main text

View BVdb publication page