Publications:

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: RET: G321R

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: G321R

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications

Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y

Publication Date: 2020-11-04

Variant appearance in text: RET: Gly321Arg

PubMed Link: 33149148

Variant Present in the following documents:

• 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10

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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: G321R

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

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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: G321R

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: G321R

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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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: G321R

PubMed Link: 23514012

Variant Present in the following documents:

• Main text
• 1756-6614-6-S1-S8.pdf

View BVdb publication page

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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: G321R

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: G321R

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

View BVdb publication page

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