Publications:

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Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology

Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL

Publication Date: 2023-03-31

Variant appearance in text: EGFR: 3040G>A; D1014N; rs751192280

PubMed Link: 37002311

Variant Present in the following documents:

• 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: EGFR: D1014N

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 4

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Non-small cell lung cancer in China.

Cancer Communications (London, England)

Chen, Peixin P; Liu, Yunhuan Y; Wen, Yaokai Y; Zhou, Caicun C

Publication Date: 2022-10

Variant appearance in text: EGFR: D1014N

PubMed Link: 36075878

Variant Present in the following documents:

• Main text
• CAC2-42-937.pdf

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: EGFR: 3040G>A; Asp1014Asn; rs751192280

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: EGFR: 3040G>A; D1014N

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Pedigree analysis of the EGFR p.V1010M germline mutation in a family with a family history of non-small-cell lung cancer.

Annals Of Translational Medicine

Li, Na N; Liu, Chunyi C; Xiong, Lan L; Huang, Depei D; Jiang, Youfan Y

Publication Date: 2022-02

Variant appearance in text: EGFR: D1014N

PubMed Link: 35284553

Variant Present in the following documents:

• Main text
• atm-10-03-154.pdf

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Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study.

Frontiers In Oncology

Lin, Xinqing X; Peng, Muyun M; Chen, Quanfang Q; Yuan, Mingming M; Chen, Rongrong R; Deng, Haiyi H; Deng, Jiaxi J; Liu, Ouqi O; Weng, Yuqing Y; Chen, Mingjiu M; Zhou, Chengzhi C

Publication Date: 2021

Variant appearance in text: EGFR: D1014N

PubMed Link: 34869019

Variant Present in the following documents:

• Main text
• fonc-11-774156.pdf

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Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

World Journal Of Gastroenterology

Gu, Guo-Li GL; Zhang, Zhi Z; Zhang, Yu-Hui YH; Yu, Peng-Fei PF; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR; Yuan, Ying Y

Publication Date: 2021-10-21

Variant appearance in text: EGFR: 3040G>A; D1014N

PubMed Link: 34754157

Variant Present in the following documents:

• Main text
• WJG-27-6631.pdf

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: EGFR: D1014N

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: EGFR: 3040G>A; D1014N

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: EGFR: D1014N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.

Translational Lung Cancer Research

Liu, Mengyuan M; Liu, Xinyi X; Suo, Peisu P; Gong, Yuan Y; Qu, Baolin B; Peng, Xiumei X; Xiao, Wenhua W; Li, Yuemin Y; Chen, Yan Y; Zeng, Zhen Z; Lu, Yinying Y; Huang, Tanxiao T; Zhao, Yingshen Y; Liu, Ming M; Li, Lifeng L; Chen, Yaru Y; Zhou, Yanqing Y; Liu, Guifeng G; Yao, Jianfei J; Chen, Shifu S; Song, Lele L

Publication Date: 2020-06

Variant appearance in text: EGFR: D1014N

PubMed Link: 32676327

Variant Present in the following documents:

• Main text

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: EGFR: D1014N

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: EGFR: 3040G>A; D1014N

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: EGFR: D1014N

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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