Publications:

---

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: RET: 200G>A; R67H

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

---

Concordance Between Recommendations From Multidisciplinary Molecular Tumor Boards and Central Consensus for Cancer Treatment in Japan.

Jama Network Open

Naito, Yoichi Y; Sunami, Kuniko K; Kage, Hidenori H; Komine, Keigo K; Amano, Toraji T; Imai, Mitsuho M; Koyama, Takafumi T; Ennishi, Daisuke D; Kanai, Masashi M; Kenmotsu, Hirotsugu H; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Watanabe, Kousuke K; Shirota, Hidekazu H; Kinoshita, Ichiro I; Yoshioka, Masashiro M; Mamesaya, Nobuaki N; Ito, Mamoru M; Kohsaka, Shinji S; Saigusa, Yusuke Y; Yamamoto, Kouji K; Hirata, Makoto M; Tsuchihara, Katsuya K; Yoshino, Takayuki T

Publication Date: 2022-12-01

Variant appearance in text: RET: 200G>A; R67H

PubMed Link: 36469316

Variant Present in the following documents:

• jamanetwopen-e2245081-s001.pdf

View BVdb publication page

---

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: RET: R67H

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

---

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: R67H; rs192489011

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

---

Analysis of a pedigree of Peutz-Jeghers syndrome and RET proto-oncogene mutation: one case report and literature review.

Translational Cancer Research

Tian, Ling-Lin LL; Guo, Jun-Zhi JZ; Yin, Yun-Qin YQ; Dang, Xiao-Hong XH; Huo, Li-Juan LJ

Publication Date: 2020-04

Variant appearance in text: RET: R67H

PubMed Link: 35117658

Variant Present in the following documents:

• Main text
• tcr-09-04-3007.pdf

View BVdb publication page

---

Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Frontiers In Oncology

Tan, Li-Cheng LC; Liu, Wan-Lin WL; Zhu, Xiao-Li XL; Yu, Peng-Cheng PC; Shi, Xiao X; Han, Pei-Zhen PZ; Zhang, Ling L; Lin, Liang-Yu LY; Semenov, Arseny A; Wang, Yu Y; Ji, Qing-Hai QH; Ji, Dong-Mei DM; Wang, Yu-Long YL; Qu, Ning N

Publication Date: 2021

Variant appearance in text: RET: Arg67His

PubMed Link: 34322384

Variant Present in the following documents:

• Main text
• fonc-11-677892.pdf

View BVdb publication page

---

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Bmc Cancer

Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Fang, Xu-Dong XD; Lian, Bi-Jun BJ; Li, Feng F; Wang, Hui-Hong HH; Cao, Zhi-Lie ZL; Zheng, Wei-Hui WH; Cao, Juan J; Chen, Yu Y

Publication Date: 2021-04-07

Variant appearance in text: MEN2A: R67H

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

View BVdb publication page

---

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: RET: 200G>A; Arg67His; rs192489011

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

---

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine

Yang, Zheng Z; Qi, Xinmeng X; Gross, Neil N; Kou, Xiujuan X; Bai, Yunlong Y; Feng, Yaru Y; Wang, Bochun B; Zafereo, Mark E ME; Li, Guojun G; Sun, Chuanzheng C; Li, Huihui H; Chen, Xiaohong X; Huang, Zhigang Z

Publication Date: 2020-11

Variant appearance in text: RET: R67H

PubMed Link: 32989896

Variant Present in the following documents:

• Main text
• JCMM-24-13163.pdf

View BVdb publication page

---

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: RET: R67H; rs192489011

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: RET: 200G>A; R67H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: RET: R67H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 47

View BVdb publication page

---

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: RET: 200G>A; R67H

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Genomic alterations of ground-glass nodular lung adenocarcinoma.

Scientific Reports

Lee, Hyun H; Joung, Je-Gun JG; Shin, Hyun-Tae HT; Kim, Duk-Hwan DH; Kim, Yujin Y; Kim, Hojoong H; Kwon, O Jung OJ; Shim, Young Mog YM; Lee, Ho Yun HY; Lee, Kyung Soo KS; Choi, Yoon-La YL; Park, Woong-Yang WY; Hayes, D Neil DN; Um, Sang-Won SW

Publication Date: 2018-05-16

Variant appearance in text: RET: R67H

PubMed Link: 29769567

Variant Present in the following documents:

• 41598_2018_25800_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: RET: R67H; rs192489011

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

---

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: 200G>A; Arg67His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget

Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW

Publication Date: 2017-07-11

Variant appearance in text: RET: R67H; rs192489011

PubMed Link: 28521285

Variant Present in the following documents:

• oncotarget-08-45943-s002.xlsx, sheet 2

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HSCR1: R67H; rs192489011

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: RET: R67H

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RET: R67H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: RET: 200G>A; R67K

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

---

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: RET: R67H; rs192489011

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---

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: MEN2A: R67H

PubMed Link: 21655256

Variant Present in the following documents:

• Main text
• pone.0020353.pdf

View BVdb publication page

---