Publications:

---

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: CALR: 1139A>G

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

---

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: CALR: 1139A>G; E380G; rs201971744

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

---

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: CALR: 1139A>G; E380G; rs201971744

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

---

Assessment of Minimal Residual Disease by Next Generation Sequencing in Peripheral Blood as a Complementary Tool for Personalized Transplant Monitoring in Myeloid Neoplasms.

Journal Of Clinical Medicine

Aguirre-Ruiz, Paula P; Ariceta, Beñat B; Viguria, María Cruz MC; Zudaire, María Teresa MT; Blasco-Iturri, Zuriñe Z; Arnedo, Patricia P; Aguilera-Diaz, Almudena A; Jauregui, Axier A; Mañú, Amagoia A; Prosper, Felipe F; Mateos, María Carmen MC; Fernández-Mercado, Marta M; Larráyoz, María José MJ; Redondo, Margarita M; Calasanz, María José MJ; Vázquez, Iria I; Bandrés, Eva E

Publication Date: 2020-11-25

Variant appearance in text: CALR: 1139A>G; Glu380Gly

PubMed Link: 33255857

Variant Present in the following documents:

• Main text
• jcm-09-03818.pdf

View BVdb publication page

---

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: CALR: E380G; rs201971744

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.

Blood Cancer Journal

Martín, Iván I; Such, Esperanza E; Navarro, Blanca B; Villamón, Eva E; Vicente, Ana A; Mora, Elvira E; Pedrola, Laia L; Ibáñez, Mariam M; López-Pavía, María M; Tormo, Mar M; Serrano, Alicia A; Sanz, Miguel Ángel MÁ; Cervera, José J; Sanz, Guillermo G

Publication Date: 2017-11-20

Variant appearance in text: CALR: 1139A>G; Glu380Gly

PubMed Link: 29235468

Variant Present in the following documents:

• 41408_2017_16_MOESM1_ESM.pdf

View BVdb publication page

---

Increased B cell activation is present in JAK2V617F-mutated, CALR-mutated and triple-negative essential thrombocythemia.

Oncotarget

Lim, Ken-Hong KH; Chen, Caleb Gon-Shen CG; Chang, Yu-Cheng YC; Chiang, Yi-Hao YH; Kao, Chen-Wei CW; Wang, Wei-Ting WT; Chang, Chiao-Yi CY; Huang, Ling L; Lin, Ching-Sung CS; Cheng, Chun-Chia CC; Cheng, Hung-I HI; Su, Nai-Wen NW; Lin, Johnson J; Chang, Yi-Fang YF; Chang, Ming-Chih MC; Hsieh, Ruey-Kuen RK; Lin, Huan-Chau HC; Kuo, Yuan-Yeh YY

Publication Date: 2017-05-16

Variant appearance in text: CALR: E380G

PubMed Link: 28415571

Variant Present in the following documents:

• Main text

View BVdb publication page

---

CALR mutation characterization in myeloproliferative neoplasms.

Oncotarget

Bilbao-Sieyro, Cristina C; Florido, Yanira Y; Gómez-Casares, María Teresa MT

Publication Date: 2016-08-16

Variant appearance in text: CALR: E380G

PubMed Link: 27384487

Variant Present in the following documents:

• Main text
• oncotarget-07-52614.pdf

View BVdb publication page

---

Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis.

Blood Cancer Journal

Lim, K-H KH; Chang, Y-C YC; Gon-Shen Chen, C C; Lin, H-C HC; Wang, W-T WT; Chiang, Y-H YH; Cheng, H-I HI; Su, N-W NW; Lin, J J; Chang, Y-F YF; Chang, M-C MC; Hsieh, R-K RK; Kuo, Y-Y YY; Chou, W-C WC

Publication Date: 2015-03-20

Variant appearance in text: CALR: E380G; rs201971744

PubMed Link: 25794131

Variant Present in the following documents:

• Main text
• bcj201521a.pdf

View BVdb publication page

---