Publications:

---

Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: NF1: 4986G>A; W1662*

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: NF1: W1662*

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 10

View BVdb publication page

---

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: NF1: 4986G>A; W1662*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: NF1: W1662*

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: NF1: 4986G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

---

Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Williams, Erik A EA; Montesion, Meagan M; Shah, Nikunj N; Sharaf, Radwa R; Pavlick, Dean C DC; Sokol, Ethan S ES; Alexander, Brian B; Venstrom, Jeff J; Elvin, Julia A JA; Ross, Jeffrey S JS; Williams, Kevin Jon KJ; Tse, Julie Y JY; Mochel, Mark C MC

Publication Date: 2020-12

Variant appearance in text: NF1: W1662*

PubMed Link: 32483240

Variant Present in the following documents:

• Main text
• 41379_2020_Article_581.pdf

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NF1: 4986G>A; W1662*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: Trp1662Ter

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1
• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

---

NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: NF1: 4986G>A; W1662*

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

---

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma.

Genome Research

Gutmann, David H DH; McLellan, Michael D MD; Hussain, Ibrahim I; Wallis, John W JW; Fulton, Lucinda L LL; Fulton, Robert S RS; Magrini, Vincent V; Demeter, Ryan R; Wylie, Todd T; Kandoth, Cyriac C; Leonard, Jeffrey R JR; Guha, Abhijit A; Miller, Christopher A CA; Ding, Li L; Mardis, Elaine R ER

Publication Date: 2013-03

Variant appearance in text: NF1: W1662*

PubMed Link: 23222849

Variant Present in the following documents:

• Main text
• 431.pdf

View BVdb publication page

---