Publications:

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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: MLH1: 283T>G; S95A

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: MLH1: 283T>G

PubMed Link: 36425562

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MLH1: S95A; rs63751070

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports

Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X

Publication Date: 2022-06-10

Variant appearance in text: MLH1: 283T>G; S95A; rs63751070

PubMed Link: 35688842

Variant Present in the following documents:

• 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: MLH1: 283T>G; S95A; rs63751070

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: HNPCC2: S95A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: MLH1: 283T>G; Ser95Ala; rs63751070

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 1

View BVdb publication page

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Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine

Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K

Publication Date: 2019-09

Variant appearance in text: MLH1: 283T>G; Ser95Ala; rs63751070

PubMed Link: 31386297

Variant Present in the following documents:

• CAM4-8-5534-s001.xlsx, sheet 1

View BVdb publication page

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High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Scientific Reports

Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS

Publication Date: 2019-07-29

Variant appearance in text: MLH1: S95A

PubMed Link: 31358837

Variant Present in the following documents:

• 41598_2019_47439_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: MLH1: 283T>G

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumor DNA analyses predict progressive disease and indicate trastuzumab-resistant mechanism in advanced gastric cancer.

Ebiomedicine

Wang, Yan Y; Zhao, Chuanhua C; Chang, Lianpeng L; Jia, Ru R; Liu, Rongrui R; Zhang, Yun Y; Gao, Xuan X; Li, Jin J; Chen, Rongrong R; Xia, Xuefeng X; Bulbul, Ajaz A; Husain, Hatim H; Guan, Yanfang Y; Yi, Xin X; Xu, Jianming J

Publication Date: 2019-05

Variant appearance in text: MLH1: 283T>G; S95A

PubMed Link: 31031019

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: MLH1: 283T>G; Ser95Ala

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Oncotarget

Kim, Yoonjung Y; Cho, Mee-Yon MY; Kim, Juwon J; Kim, Sung Nam SN; Oh, Seoung Chul SC; Lee, Kyung-A KA

Publication Date: 2017-09-19

Variant appearance in text: MLH1: S95A

PubMed Link: 29050249

Variant Present in the following documents:

• Main text
• oncotarget-08-69888.pdf

View BVdb publication page

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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: MLH1: S95A; rs63751070

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, 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: MLH1: 283T>G; Ser95Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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