Publications:

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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: SMARCA4: Q201L; rs587778682

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: SMARCA4: 602A>T; Q201L

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Correlations of switch/sucrose nonfermentable complex mutations with clinical outcomes in advanced non-small cell lung cancer.

Thoracic Cancer

Chang, Geyun G; Li, Weihua W; Bai, Hua H; Duan, Jianchun J; Wang, Zhijie Z; Du, Xinyang X; Yu, Ruofei R; Wang, Yaxi Y; Wang, Minghao M; Zhu, Yixiang Y; Zhang, Xue X; Li, Li L; Wan, Rui R; Wang, Jie J

Publication Date: 2022-11

Variant appearance in text: SMARCA4: Q201L

PubMed Link: 36126963

Variant Present in the following documents:

• TCA-13-2951-s001.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: SMARCA4: 602A>T; Q201L

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: SMARCA4: Q201L

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: SMARCA4: 602A>T; Q201L

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: SMARCA4: Q201L

PubMed Link: 34285288

Variant Present in the following documents:

• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 6

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: SMARCA4: 602A>T; Gln201Leu; rs587778682

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Computational And Structural Biotechnology Journal

Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q

Publication Date: 2021

Variant appearance in text: SMARCA4: 602A>T; Gln201Leu; rs587778682

PubMed Link: 34194672

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.

Cancers

Choi, Yun Mi YM; Lim, Jinyeong J; Jeon, Min Ji MJ; Lee, Yu-Mi YM; Sung, Tae-Yon TY; Hong, Eun-Gyoung EG; Lee, Ji-Young JY; Jang, Se Jin SJ; Kim, Won Gu WG; Song, Dong Eun DE; Chun, Sung-Min SM

Publication Date: 2021-05-14

Variant appearance in text: SMARCA4: 602A>T; Gln201Leu

PubMed Link: 34069252

Variant Present in the following documents:

• Main text
• cancers-13-02389.pdf

View BVdb publication page

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Ganglioside Monosialic Acid Alleviates Peripheral Neuropathy Induced by Utidelone Plus Capecitabine in Metastatic Breast Cancer From a Phase III Clinical Trial.

Frontiers In Oncology

Xu, Junnan J; Wang, Yan Y; Jiang, Cui C; Cao, Hui H; Jiang, Junhan J; Xu, Binghe B; Sun, Tao T

Publication Date: 2020

Variant appearance in text: SMARCA4: Q201L

PubMed Link: 33163394

Variant Present in the following documents:

• Main text
• fonc-10-524223.pdf

View BVdb publication page

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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: SMARCA4: Q201L

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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