Publications:

---

Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.

Epigenetics & Chromatin

Salma, Mohammad M; Alaterre, Elina E; Moreaux, Jérôme J; Soler, Eric E

Publication Date: 2023-06-14

Variant appearance in text: TET2: C1193Y

PubMed Link: 37312221

Variant Present in the following documents:

• 13072_2023_497_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology

,

Publication Date: 2022-11-24

Variant appearance in text: TET2: 3578G>A; C1193Y

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

CNL and aCML should be considered as single entity based on molecular profiles and outcomes.

Blood Advances

Carreño-Tarragona, Gonzalo G; Alvarez-Larran, Alberto A; Harrison, Claire N CN; Martínez-Ávila, José Carlos JC; Hernandez-Boluda, Juan Carlos JC; Ferrer-Marin, Francisca F; Radia, Deepti H DH; Mora Casterá, Elvira E; Francis, Sebastian S; González-Martínez, Teresa T; Goddard, Kathryn K; Perez-Encinas, Manuel M; Narayanan, Srinivasan S; Raya, Jose Maria JM; Singh, Vikram V; Toth, Peter P; Gutiérrez, Xabier X; Amat Martinez, Paula P; McIlwaine, Louisa L; Alobaidi, Magda M; Mayani, Karan K; McGregor, Andrew A; Stuckey, Ruth R; Psaila, Bethan B; Segura, Adrian A; Alvares, Caroline L CL; Davidson, Kerri K; Osorio, Santiago S; Cutting, Robert R; Sweeney, Caroline P CP; Rufian, Laura L; Moreno, Laura L; Cuenca, Isabel I; Smith, Jeffrey J; Morales, María Luz ML; Gil-Manso, Rodrigo R; Koutsavlis, Ioannis I; Wang, Lihui L; Mead, Adam J AJ; Rozman, Maria M; Martínez-López, Joaquin J; Ayala, Rosa R; Cross, Nicholas Cp NC

Publication Date: 2022-11-14

Variant appearance in text: TET2: 3578G>A; C1193Y

PubMed Link: 36375042

Variant Present in the following documents:

• BLOODA_ADV-2022-008204-mmc1.pdf

View BVdb publication page

---

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TET2: C1193Y

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

---

The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: TET2: C1193Y

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine

Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP

Publication Date: 2022-06

Variant appearance in text: TET2: 3578G>A; Cys1193Tyr

PubMed Link: 35617825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer

Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y

Publication Date: 2022-03-12

Variant appearance in text: TET2: 3578G>A; Cys1193Tyr

PubMed Link: 35279121

Variant Present in the following documents:

• 12885_2022_9347_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia

Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP

Publication Date: 2022-02

Variant appearance in text: TET2: C1193Y

PubMed Link: 34413458

Variant Present in the following documents:

• 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine

Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J

Publication Date: 2020-11

Variant appearance in text: TET2: 3578G>A; C1193Y

PubMed Link: 33252848

Variant Present in the following documents:

• CTM2-10-e222-s003.xlsx, sheet 1

View BVdb publication page

---

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.

Nature Communications

Yurchenko, Andrey A AA; Padioleau, Ismael I; Matkarimov, Bakhyt T BT; Soulier, Jean J; Sarasin, Alain A; Nikolaev, Sergey S

Publication Date: 2020-11-17

Variant appearance in text: TET2: C1193Y

PubMed Link: 33203900

Variant Present in the following documents:

• 41467_2020_19633_MOESM1_ESM.pdf

View BVdb publication page

---

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature

Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P

Publication Date: 2020-10

Variant appearance in text: TET2: C1193Y

PubMed Link: 33057201

Variant Present in the following documents:

• NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4

View BVdb publication page

---

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Haematologica

Caprioli, Chiara C; Lussana, Federico F; Salmoiraghi, Silvia S; Cavagna, Roberta R; Buklijas, Ksenija K; Elidi, Lara L; Zanghi', Pamela P; Michelato, Anna A; Delaini, Federica F; Oldani, Elena E; Intermesoli, Tamara T; Grassi, Anna A; Gianfaldoni, Giacomo G; Mannelli, Francesco F; Ferrero, Dario D; Audisio, Ernesta E; Terruzzi, Elisabetta E; De Paoli, Lorella L; Cattaneo, Chiara C; Borlenghi, Erika E; Cavattoni, Irene I; Tajana, Monica M; Scattolin, Anna Maria AM; Mattei, Daniele D; Corradini, Paolo P; Campiotti, Leonardo L; Ciceri, Fabio F; Bernardi, Massimo M; Todisco, Elisabetta E; Cortelezzi, Agostino A; Falini, Brunangelo B; Pavoni, Chiara C; Bassan, Renato R; Spinelli, Orietta O; Rambaldi, Alessandro A

Publication Date: 2021-10-01

Variant appearance in text: TET2: 3578G>A; Cys1193Tyr

PubMed Link: 32855275

Variant Present in the following documents:

• 2020_252825_CAPRIOLI_SUPPL.pdf

View BVdb publication page

---

Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Cancers

Segura-Díaz, Adrián A; Stuckey, Ruth R; Florido, Yanira Y; González-Martín, Jesús María JM; López-Rodríguez, Juan Francisco JF; Sánchez-Sosa, Santiago S; González-Pérez, Elena E; Sáez Perdomo, María Nieves MN; Perera, María Del Mar MDM; de la Iglesia, Silvia S; Molero-Labarta, Teresa T; Gómez-Casares, María Teresa MT; Bilbao-Sieyro, Cristina C

Publication Date: 2020-04-10

Variant appearance in text: TET2: 3578G>A; C1193Y

PubMed Link: 32290079

Variant Present in the following documents:

• cancers-12-00934-s001.pdf

View BVdb publication page

---

Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Haematologica

Ouseph, Madhu M MM; Hasserjian, Robert P RP; Dal Cin, Paola P; Lovitch, Scott B SB; Steensma, David P DP; Nardi, Valentina V; Weinberg, Olga K OK

Publication Date: 2021-02-01

Variant appearance in text: TET2: 3578G>A; C1193Y

PubMed Link: 32193254

Variant Present in the following documents:

• 2019_240689_OUSEPH_SUPPL.pdf

View BVdb publication page

---

Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell.

The Journal Of Pathology

Yao, Wen-Qing WQ; Wu, Fangtian F; Zhang, Wenyan W; Chuang, Shih-Sung SS; Thompson, Joe S JS; Chen, Zi Z; Zhang, Shao-Wei SW; Clipson, Alexandra A; Wang, Ming M; Liu, Hongxiang H; Bibawi, Hani H; Huang, Yuanxue Y; Campos, Luis L; Grant, John W JW; Wright, Penny P; Ei-Daly, Hesham H; Rásó-Barnett, Lívia L; Farkas, Lorant L; Follows, George A GA; Gao, Zifen Z; Attygalle, Ayoma D AD; Ashton-Key, Margaret M; Liu, Weiping W; Du, Ming-Qing MQ

Publication Date: 2020-03

Variant appearance in text: TET2: C1193Y

PubMed Link: 31859368

Variant Present in the following documents:

• PATH-250-346-s001.pdf

View BVdb publication page

---

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications

Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP

Publication Date: 2019-11-26

Variant appearance in text: TET2: C1193Y

PubMed Link: 31772163

Variant Present in the following documents:

• 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine

Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P

Publication Date: 2019-07

Variant appearance in text: TET2: 3578G>A; Cys1193Tyr

PubMed Link: 31187595

Variant Present in the following documents:

View BVdb publication page

---

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome.

Leukemia

Duncavage, E J EJ; O'Brien, J J; Vij, K K; Miller, C A CA; Chang, G S GS; Shao, J J; Jacoby, M A MA; Heath, S S; Janke, M R MR; Elliott, K K; Fulton, R S RS; Fronick, C C; O'Laughlin, M M; Westervelt, P P; Ley, T J TJ; Wilson, R K RK; Walter, M J MJ

Publication Date: 2016-12

Variant appearance in text: TET2: C1193Y

PubMed Link: 27573557

Variant Present in the following documents:

• NIHMS801589-supplement-2.xlsx, sheet 1

View BVdb publication page

---

Bone marrow fibrosis in myelodysplastic syndromes: a prospective evaluation including mutational analysis.

Oncotarget

Ramos, Fernando F; Robledo, Cristina C; Izquierdo-García, Francisco Miguel FM; Suárez-Vilela, Dimas D; Benito, Rocío R; Fuertes, Marta M; Insunza, Andrés A; Barragán, Eva E; Del Rey, Mónica M; García-Ruiz de Morales, José María JM; Tormo, Mar M; Salido, Eduardo E; Zamora, Lurdes L; Pedro, Carmen C; Sánchez-Del-Real, Javier J; Díez-Campelo, María M; Del Cañizo, Consuelo C; Sanz, Guillermo F GF; Hernández-Rivas, Jesús María JM; ,

Publication Date: 2016-05-24

Variant appearance in text: TET2: Cys1193Tyr

PubMed Link: 27127180

Variant Present in the following documents:

• oncotarget-07-30492-s002.pdf

View BVdb publication page

---