Publications:

---

NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

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

Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K

Publication Date: 2022-11-08

Variant appearance in text: KIT: R888W

PubMed Link: 36346689

Variant Present in the following documents:

• ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5

View BVdb publication page

---

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology

Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q

Publication Date: 2022

Variant appearance in text: KIT: 2662C>T; Arg888Trp

PubMed Link: 35372080

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: KIT: R888W

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

View BVdb publication page

---

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Frontiers In Genetics

Ju, Yunhe Y; Wu, Xingrao X; Wang, Huizhen H; Li, Bin B; Long, Qing Q; Zhang, Dadong D; Chen, Hao H; Xiao, Nianqing N; Li, Fugen F; Zhang, Shiwen S; Yang, Shenggang S

Publication Date: 2021

Variant appearance in text: KIT: R888W

PubMed Link: 34194478

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 6

View BVdb publication page

---

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: KIT: R888W

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports

Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y

Publication Date: 2020-12-16

Variant appearance in text: KIT: R888W

PubMed Link: 33328548

Variant Present in the following documents:

• 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: R888W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine

Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O

Publication Date: 2019-12

Variant appearance in text: KIT: R888W

PubMed Link: 31768065

Variant Present in the following documents:

• Main text
• nihms-1541330.pdf

View BVdb publication page

---