Publications:

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Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.

Frontiers In Oncology

Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Gifoni, Markus Andret Cavalcante MAC; Wotroba, Camila Martins CM; Palmero, Edenir Inez EI; Costa, Eduardo Leite Vieira ELV; Dos Santos, Wellington W; Achatz, Maria Isabel MI

Publication Date: 2022

Variant appearance in text: RET: 2371T>A; Tyr791Asn

PubMed Link: 35957908

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Cutaneous Rosai Dorfman disease harboring RET and MAP2K1 mutations, successfully treated with methotrexate.

International Journal Of Dermatology

Konstantinou, Maria P MP; Tournier, Emilie E

Publication Date: 2022-11

Variant appearance in text: RET: Tyr791Asn

PubMed Link: 35569068

Variant Present in the following documents:

• Main text
• IJD-61-1409.pdf

View BVdb publication page

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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: 2371T>A

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RET: 2371T>A; Y791N

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: RET: Y791N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Integrative annotation and knowledge discovery of kinase post-translational modifications and cancer-associated mutations through federated protein ontologies and resources.

Scientific Reports

Huang, Liang-Chin LC; Ross, Karen E KE; Baffi, Timothy R TR; Drabkin, Harold H; Kochut, Krzysztof J KJ; Ruan, Zheng Z; D'Eustachio, Peter P; McSkimming, Daniel D; Arighi, Cecilia C; Chen, Chuming C; Natale, Darren A DA; Smith, Cynthia C; Gaudet, Pascale P; Newton, Alexandra C AC; Wu, Cathy C; Kannan, Natarajan N

Publication Date: 2018-04-25

Variant appearance in text: RET: Y791N

PubMed Link: 29695735

Variant Present in the following documents:

• 41598_2018_24457_MOESM1_ESM.pdf

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: RET: Y791N

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: RET: 2371T>A

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1
• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RET: 2371T>A; Tyr791Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RET: 2371T>A; Y791N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: RET: Tyr791Asn

PubMed Link: 27127180

Variant Present in the following documents:

• oncotarget-07-30492-s002.pdf

View BVdb publication page

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Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Scientific Reports

Luzón-Toro, Berta B; Gui, Hongsheng H; Ruiz-Ferrer, Macarena M; Sze-Man Tang, Clara C; Fernández, Raquel M RM; Sham, Pak-Chung PC; Torroglosa, Ana A; Kwong-Hang Tam, Paul P; Espino-Paisán, Laura L; Cherny, Stacey S SS; Bleda, Marta M; Enguix-Riego, María Del Valle Mdel V; Dopazo, Joaquín J; Antiñolo, Guillermo G; García-Barceló, María-Mercé MM; Borrego, Salud S

Publication Date: 2015-11-12

Variant appearance in text: RET: 2371T>A; Tyr791Asn

PubMed Link: 26559152

Variant Present in the following documents:

• Main text
• srep16473.pdf

View BVdb publication page

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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer

Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP

Publication Date: 2015-02

Variant appearance in text: RET: Y791N

PubMed Link: 25425582

Variant Present in the following documents:

• Main text
• ERC140491.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RET: Y791N

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Measurement of calcitonin and calcitonin gene-related peptide mRNA refines the management of patients with medullary thyroid cancer and may replace calcitonin-stimulation tests.

Thyroid : Official Journal Of The American Thyroid Association

Camacho, Cléber P CP; Lindsey, Susan C SC; Melo, Maria Clara C MC; Yang, Ji H JH; Germano-Neto, Fausto F; Valente, Flávia de O F Fde O; Lima, Thiago R N TR; Biscolla, Rosa Paula M RP; Vieira, José G H JG; Cerutti, Janete M JM; Dias-da-Silva, Magnus R MR; Maciel, Rui M B RM

Publication Date: 2013-03

Variant appearance in text: RET: Tyr791Asn

PubMed Link: 23259706

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.

Clinics (Sao Paulo, Brazil)

Wagner, Simona M SM; Zhu, ShuJun S; Nicolescu, Adrian C AC; Mulligan, Lois M LM

Publication Date: 2012

Variant appearance in text: RET: Y791N

PubMed Link: 22584710

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype correlation in multiple endocrine neoplasia type 2.

Clinics (Sao Paulo, Brazil)

Raue, Friedhelm F; Frank-Raue, Karin K

Publication Date: 2012

Variant appearance in text: RET: Y791N

PubMed Link: 22584709

Variant Present in the following documents:

• Main text
• cln-67-s1-69.pdf

View BVdb publication page

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Plos One

Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA

Publication Date: 2011-03-30

Variant appearance in text: RET: Y791N

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

View BVdb publication page

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