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: KMT2C: T820I

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetically determining individualized clinical reference ranges for the biomarker tryptase can limit unnecessary procedures and unmask myeloid neoplasms.

Blood Advances

Chovanec, Jack J; Tunc, Ilker I; Hughes, Jason J; Halstead, Joseph J; Mateja, Allyson A; Liu, Yihui Y; O'Connell, Michael M; Kim, Jiwon J; Park, Young Hwan YH; Wang, Qinlu Q; Le, Quang Trong QT; Pirooznia, Mehdi M; Trivedi, Neil N; Bai, Yun Y; Yin, Yuzhi Y; Hsu, Amy P AP; McElwee, Joshua J JJ; Lassiter, Sheryce S; Nelson, Celeste C; Bandoh, Judy J; DiMaggio, Thomas T; Selb, Julij J; Rijavec, Matija M; Carter, Melody C MC; Komarow, Hirsh H; Sabato, Vito V; Steinberg, Joshua A JA; Hafer, Kurt M KM; Feuille, Elizabeth E; Hourigan, Christopher S CS; Lack, Justin J; Khoury, Paneez P; Maric, Irina I; Zanotti, Roberta R; Bonadonna, Patrizia P; Schwartz, Lawrence B LB; Milner, Joshua D JD; Glover, Sarah S; Ebo, Didier G DG; Korosec, Peter P; Caughey, George G; Brittain, Erica E; Busby, Ben B; Metcalfe, Dean D DD; Lyons, Jonathan J JJ

Publication Date: 2022-09-28

Variant appearance in text: KMT2C: T820I

PubMed Link: 36170795

Variant Present in the following documents:

• BLOODA_ADV-2022-007936-mmc1.pdf

View BVdb publication page

---

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: KMT2C: T820I

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

---

Utility of exome sequencing in routine care for metastatic colorectal cancer.

Molecular And Clinical Oncology

D'Agay, Melchior De Giraud MG; Galland, Loïck L; Tharin, Zoe Z; Truntzer, Caroline C; Ghiringhelli, Francois F

Publication Date: 2021-11

Variant appearance in text: KMT2C: 2459C>T; Thr820Ile

PubMed Link: 34631054

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

---

Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches.

Frontiers In Cell And Developmental Biology

Laprovitera, Noemi N; Salamon, Irene I; Gelsomino, Francesco F; Porcellini, Elisa E; Riefolo, Mattia M; Garonzi, Marianna M; Tononi, Paola P; Valente, Sabrina S; Sabbioni, Silvia S; Fontana, Francesca F; Manaresi, Nicolò N; D'Errico, Antonia A; Pantaleo, Maria A MA; Ardizzoni, Andrea A; Ferracin, Manuela M

Publication Date: 2021

Variant appearance in text: KMT2C: T820I

PubMed Link: 34178989

Variant Present in the following documents:

• Main text
• fcell-09-666156.pdf

View BVdb publication page

---

Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer.

Nature Communications

Roper, Nitin N; Velez, Moises J MJ; Chiappori, Alberto A; Kim, Yoo Sun YS; Wei, Jun S JS; Sindiri, Sivasish S; Takahashi, Nobuyuki N; Mulford, Deborah D; Kumar, Suresh S; Ylaya, Kris K; Trindade, Christopher C; Manukyan, Irena I; Brown, Anna-Leigh AL; Trepel, Jane B JB; Lee, Jung-Min JM; Hewitt, Stephen S; Khan, Javed J; Thomas, Anish A

Publication Date: 2021-06-23

Variant appearance in text: KMT2C: T820I

PubMed Link: 34162872

Variant Present in the following documents:

• 41467_2021_24164_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.

Bmc Cancer

Lee, Sun-Young SY; Chae, Dong-Kyu DK; Lee, Sung-Hun SH; Lim, Yohan Y; An, Jahyun J; Chae, Chang Hoon CH; Kim, Byung Chul BC; Bhak, Jong J; Bolser, Dan D; Cho, Dong-Hyu DH

Publication Date: 2020-07-27

Variant appearance in text: KMT2C: 2459C>T; T820I

PubMed Link: 32718341

Variant Present in the following documents:

• 12885_2020_7161_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget

Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2020-04-07

Variant appearance in text: KMT2C: 2459C>T; Thr820Ile

PubMed Link: 32292574

Variant Present in the following documents:

• oncotarget-11-1244-s005.xlsx, sheet 1

View BVdb publication page

---

Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications

Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA

Publication Date: 2019-05-16

Variant appearance in text: KMT2C: T820I

PubMed Link: 31097695

Variant Present in the following documents:

• 41467_2019_9937_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

---

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: KMT2C: 2459C>T; Thr820Ile

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

---

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj

Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2019

Variant appearance in text: KMT2C: T820I

PubMed Link: 30828495

Variant Present in the following documents:

• peerj-07-6501-s001.xlsx, sheet 3

View BVdb publication page

---

Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: MLL3: 2459C>T

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 3
• pone.0210079.s007.xlsx, sheet 18

View BVdb publication page

---

Establishment and molecular characterization of a human ovarian clear cell carcinoma cell line (FDOV1).

Journal Of Ovarian Research

Jiang, Wei W; Ye, Shuang S; Xiang, Libing L; Yang, Wentao W; He, Tiancong T; Pei, Xuan X; Guo, Lin L; Yang, Huijuan H

Publication Date: 2018-07-09

Variant appearance in text: KMT2C: T820I

PubMed Link: 29986747

Variant Present in the following documents:

• Main text
• 13048_2018_Article_429.pdf

View BVdb publication page

---

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MLL3: 2459C>T; rs200598064

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

---

Whole-exome analysis in osteosarcoma to identify a personalized therapy.

Oncotarget

Chiappetta, Caterina C; Mancini, Massimiliano M; Lessi, Francesca F; Aretini, Paolo P; De Gregorio, Veronica V; Puggioni, Chiara C; Carletti, Raffaella R; Petrozza, Vincenzo V; Civita, Prospero P; Franceschi, Sara S; Naccarato, Antonio G AG; Rocca, Carlo Della CD; Mazzanti, Chiara M CM; Di Cristofano, Claudio C

Publication Date: 2017-10-06

Variant appearance in text: KMT2C: 2459C>T; Thr820Ile

PubMed Link: 29113313

Variant Present in the following documents:

• Main text
• oncotarget-08-80416.pdf

View BVdb publication page

---

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget

Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP

Publication Date: 2016-11-22

Variant appearance in text: KMT2C: T820I

PubMed Link: 27791198

Variant Present in the following documents:

• Main text

View BVdb publication page

---