Publications:

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: RET: 1013C>T

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

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A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

International Journal Of Molecular Sciences

Romei, Cristina C; Elisei, Rossella R

Publication Date: 2021-02-09

Variant appearance in text: MEN2A: T338I

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

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Sensitivity of human meningioma cells to the cyclin-dependent kinase inhibitor, TG02.

Translational Oncology

von Achenbach, Caroline C; Le Rhun, Emilie E; Sahm, Felix F; Wang, Sophie S SS; Sievers, Philipp P; Neidert, Marian C MC; Rushing, Elisabeth J EJ; Lawhon, Tracy T; Schneider, Hannah H; von Deimling, Andreas A; Weller, Michael M

Publication Date: 2020-12

Variant appearance in text: RET: T338I

PubMed Link: 32916418

Variant Present in the following documents:

• mmc4.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: RET: 1013C>T; Thr338Ile; rs377767433

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: T338I

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

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A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Archives Of Endocrinology And Metabolism

Martins-Costa, Maria Cecília MC; Lindsey, Susan C SC; Cunha, Lucas L LL; Carreiro-Filho, Fernando Porto FP; Cortez, André P AP; Holanda, Marcelo E ME; Farias, J Wilson M de JWM; Lima, Sérgio B SB; Ferreira, Luís A Albano LAA; Maia Filho, Pedro Collares PC; Camacho, Cléber P CP; Furuzawa, Gilberto K GK; Kunii, Ilda S IS; Dias-da-Silva, Magnus R MR; Martins, João R M JRM; Maciel, Rui M B RMB

Publication Date: 2018

Variant appearance in text: RET: T338I

PubMed Link: 30624503

Variant Present in the following documents:

• Main text
• 2359-4292-aem-62-06-0623.pdf

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Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Genome Medicine

Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR

Publication Date: 2018-12-24

Variant appearance in text: RET: 1013C>T; Thr338Ile; rs377767433

PubMed Link: 30583724

Variant Present in the following documents:

• 13073_2018_607_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Bmc Medical Genetics

Luzón-Toro, Berta B; Espino-Paisán, Laura L; Fernández, Raquel Ma RM; Martín-Sánchez, Marta M; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2015-10-05

Variant appearance in text: RET: 1013C>T; Thr338Ile

PubMed Link: 26437850

Variant Present in the following documents:

• Main text
• 12881_2015_Article_235.pdf

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Structural and spectroscopic analysis of the kinase inhibitor bosutinib and an isomer of bosutinib binding to the Abl tyrosine kinase domain.

Plos One

Levinson, Nicholas M NM; Boxer, Steven G SG

Publication Date: 2012

Variant appearance in text: RET: T338I

PubMed Link: 22493660

Variant Present in the following documents:

• Main text
• pone.0029828.pdf

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Discovery of a small-molecule type II inhibitor of wild-type and gatekeeper mutants of BCR-ABL, PDGFRalpha, Kit, and Src kinases: novel type II inhibitor of gatekeeper mutants.

Blood

Weisberg, Ellen E; Choi, Hwan Geun HG; Ray, Arghya A; Barrett, Rosemary R; Zhang, Jianming J; Sim, Taebo T; Zhou, Wenjun W; Seeliger, Markus M; Cameron, Michael M; Azam, Mohammed M; Fletcher, Jonathan A JA; Debiec-Rychter, Maria M; Mayeda, Mark M; Moreno, Daisy D; Kung, Andrew L AL; Janne, Pasi Antero PA; Khosravi-Far, Roya R; Melo, Junia V JV; Manley, Paul W PW; Adamia, Sophia S; Wu, Catherine C; Gray, Nathanael N; Griffin, James D JD

Publication Date: 2010-05-27

Variant appearance in text: RET: T338I

PubMed Link: 20299508

Variant Present in the following documents:

• Main text

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Targeted polypharmacology: discovery of dual inhibitors of tyrosine and phosphoinositide kinases.

Nature Chemical Biology

Apsel, Beth B; Blair, Jimmy A JA; Gonzalez, Beatriz B; Nazif, Tamim M TM; Feldman, Morri E ME; Aizenstein, Brian B; Hoffman, Randy R; Williams, Roger L RL; Shokat, Kevan M KM; Knight, Zachary A ZA

Publication Date: 2008-11

Variant appearance in text: RET: T338I

PubMed Link: 18849971

Variant Present in the following documents:

• nihms69615.pdf

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