Publications:

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: NF1: 7481G>A; Trp2494*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: NF1: W2494*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: NF1: W2494*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: NF1: 7481G>A; W2494*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5

View BVdb publication page

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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: 7481G>A; Trp2494*

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.

Npj Precision Oncology

Brastianos, Priscilla K PK; Nayyar, Naema N; Rosebrock, Daniel D; Leshchiner, Ignaty I; Gill, Corey M CM; Livitz, Dimitri D; Bertalan, Mia S MS; D'Andrea, Megan M; Hoang, Kaitlin K; Aquilanti, Elisa E; Chukwueke, Ugonma N UN; Kaneb, Andrew A; Chi, Andrew A; Plotkin, Scott S; Gerstner, Elizabeth R ER; Frosch, Mathew P MP; Suva, Mario L ML; Cahill, Daniel P DP; Getz, Gad G; Batchelor, Tracy T TT

Publication Date: 2017

Variant appearance in text: NF1: W2494*

PubMed Link: 29872714

Variant Present in the following documents:

• 41698_2017_35_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Mutation and Copy Number Profiling in Archived Circulating Breast Cancer Tumor Cells Documents Heterogeneous Resistance Mechanisms.

Cancer Research

Paoletti, Costanza C; Cani, Andi K AK; Larios, Jose M JM; Hovelson, Daniel H DH; Aung, Kimberly K; Darga, Elizabeth P EP; Cannell, Emily M EM; Baratta, Paul J PJ; Liu, Chia-Jen CJ; Chu, David D; Yazdani, Maryam M; Blevins, Allen R AR; Sero, Valeria V; Tokudome, Nahomi N; Thomas, Dafydd G DG; Gersch, Christina C; Schott, Anne F AF; Wu, Yi-Mi YM; Lonigro, Robert R; Robinson, Dan R DR; Chinnaiyan, Arul M AM; Bischoff, Farideh Z FZ; Johnson, Michael D MD; Park, Ben H BH; Hayes, Daniel F DF; Rae, James M JM; Tomlins, Scott A SA

Publication Date: 2018-02-15

Variant appearance in text: NF1: W2494X

PubMed Link: 29233927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Plos One

Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P

Publication Date: 2015

Variant appearance in text: NF1: Trp2494*

PubMed Link: 26230854

Variant Present in the following documents:

• Main text
• pone.0133210.pdf

View BVdb publication page

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