Publications:

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Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Cancer Research

Tabata, Junya J; Nakaoku, Takashi T; Araki, Mitsugu M; Yoshino, Ryunosuke R; Kohsaka, Shinji S; Otsuka, Ayaka A; Ikegami, Masachika M; Ui, Ayako A; Kanno, Shin-Ichiro SI; Miyoshi, Keiko K; Matsumoto, Shigeyuki S; Sagae, Yukari Y; Yasui, Akira A; Sekijima, Masakazu M; Mano, Hiroyuki H; Okuno, Yasushi Y; Okamoto, Aikou A; Kohno, Takashi T

Publication Date: 2022-10-17

Variant appearance in text: RET: Y606C

PubMed Link: 36166639

Variant Present in the following documents:

• Main text
• 3751.pdf

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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: 1817A>G; Y606C

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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Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Biomarker Insights

Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM

Publication Date: 2018

Variant appearance in text: RET: Tyr606Cys

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C

Publication Date: 2018-11-01

Variant appearance in text: RET: Tyr606Cys

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.

Clinical Cases In Mineral And Bone Metabolism : The Official Journal Of The Italian Society Of Osteoporosis, Mineral Metabolism, And Skeletal Diseases

Marini, Francesca F; Cianferotti, Luisella L; Giusti, Francesca F; Brandi, Maria Luisa ML

Publication Date: 2017

Variant appearance in text: RET: Y606C

PubMed Link: 28740527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology

Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2015

Variant appearance in text: RET: Y606C

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

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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: Y606C

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management.

The Journal Of Clinical Endocrinology And Metabolism

Marx, Stephen J SJ

Publication Date: 2013-08

Variant appearance in text: RET: Tyr606Cys

PubMed Link: 23771922

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple endocrine neoplasia type 2: achievements and current challenges.

Clinics (Sao Paulo, Brazil)

Machens, Andreas A; Dralle, Henning H

Publication Date: 2012

Variant appearance in text: RET: Y606C

PubMed Link: 22584715

Variant Present in the following documents:

• cln-67-s1-113.pdf

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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: Y606C

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

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An introduction to managing medullary thyroid cancer.

Hereditary Cancer In Clinical Practice

de Groot, Jan Willem JW; Links, Thera P TP; Hofstra, Robert Mw RM; Plukker, John Tm JT

Publication Date: 2006-07-15

Variant appearance in text: RET: Y606C

PubMed Link: 20223015

Variant Present in the following documents:

• 1897-4287-4-3-115.pdf

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Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

The Journal Of Molecular Diagnostics : Jmd

Ahmed, Syed A SA; Snow-Bailey, Karen K; Highsmith, W Edward WE; Sun, Weimin W; Fenwick, Raymond G RG; Mao, Rong R

Publication Date: 2005-05

Variant appearance in text: RET: Y606C

PubMed Link: 15858153

Variant Present in the following documents:

• Main text

View BVdb publication page

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