Publications:

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: RET: E805K

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.

Frontiers In Endocrinology

Li, Shu-Yuan SY; Ding, Yi-Qiang YQ; Si, You-Liang YL; Ye, Mu-Jin MJ; Xu, Chen-Ming CM; Qi, Xiao-Ping XP

Publication Date: 2020

Variant appearance in text: RET: E805K

PubMed Link: 33071967

Variant Present in the following documents:

• Main text
• fendo-11-543246.pdf

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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: E805K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: Glu805Lys

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

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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: E805K

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: RET: E805K

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

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How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

European Thyroid Journal

Karrasch, Thomas T; Herbst, Saskia M SM; Hehr, Ute U; Schmid, Andreas A; Schäffler, Andreas A

Publication Date: 2016-03

Variant appearance in text: RET: Glu805Lys

PubMed Link: 27099842

Variant Present in the following documents:

• Main text

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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: E805K

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

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Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Thyroid : Official Journal Of The American Thyroid Association

Wells, Samuel A SA; Asa, Sylvia L SL; Dralle, Henning H; Elisei, Rossella R; Evans, Douglas B DB; Gagel, Robert F RF; Lee, Nancy N; Machens, Andreas A; Moley, Jeffrey F JF; Pacini, Furio F; Raue, Friedhelm F; Frank-Raue, Karin K; Robinson, Bruce B; Rosenthal, M Sara MS; Santoro, Massimo M; Schlumberger, Martin M; Shah, Manisha M; Waguespack, Steven G SG; ,

Publication Date: 2015-06

Variant appearance in text: RET: E805K

PubMed Link: 25810047

Variant Present in the following documents:

• Main text

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A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Clinics (Sao Paulo, Brazil)

Toledo, Sergio P A SP; Lourenço, Delmar M DM; Toledo, Rodrigo A RA

Publication Date: 2013-07

Variant appearance in text: RET: E805K

PubMed Link: 23917672

Variant Present in the following documents:

• Main text

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Clinically relevant genetic advances in endocrinology.

Clinical Medicine (London, England)

Rogers, Angela A; Thakker, Rajesh V RV

Publication Date: 2013-06

Variant appearance in text: RET: Glu805Lys

PubMed Link: 23760708

Variant Present in the following documents:

• Main text

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Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

The Journal Of Clinical Endocrinology And Metabolism

Wells, Samuel A SA; Pacini, Furio F; Robinson, Bruce G BG; Santoro, Massimo M

Publication Date: 2013-08

Variant appearance in text: RET: E805K

PubMed Link: 23744408

Variant Present in the following documents:

• Main text

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The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Thyroid Research

Fugazzola, Laura L; De Leo, Simone S; Perrino, Michela M

Publication Date: 2013-03-14

Variant appearance in text: RET: E805K

PubMed Link: 23514012

Variant Present in the following documents:

• Main text
• 1756-6614-6-S1-S8.pdf

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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: E805K

PubMed Link: 22584710

Variant Present in the following documents:

• Main text

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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Plos One

Qi, Xiao-Ping XP; Ma, Ju-Ming JM; Du, Zhen-Fang ZF; Ying, Rong-Biao RB; Fei, Jun J; Jin, Hang-Yang HY; Han, Jian-Shan JS; Wang, Jin-Quan JQ; Chen, Xiao-Ling XL; Chen, Chun-Yue CY; Liu, Wen-Ting WT; Lu, Jia-Jun JJ; Zhang, Jian-Guo JG; Zhang, Xian-Ning XN

Publication Date: 2011

Variant appearance in text: RET: E805K

PubMed Link: 21655256

Variant Present in the following documents:

• Main text
• pone.0020353.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: E805K

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

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