Publications:

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: CREBBP: G876R; rs746552957

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: CREBBP: 2626G>A; G876R

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer

Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S

Publication Date: 2021-02-15

Variant appearance in text: CREBBP: 2626G>A; Gly876Arg

PubMed Link: 33588785

Variant Present in the following documents:

• 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: CREBBP: 2626G>A; G876R

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

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Inconsistent Intersample ALK FISH Results in Patients with Lung Cancer: Analysis of Potential Causes.

Cancers

Tang, Zhenya Z; Chen, Hui H; Hong, Lingzhi L; Tang, Guilin G; Toruner, Gokce A GA; Wang, Wei W; Roy Chowdhuri, Sinchita S; Yin, Wei W; Jung, Hai Suk HS; Gu, Jun J; Routbort, Mark J MJ; Zhang, Jianjun J; Khoury, Joseph D JD; Medeiros, L Jeffrey LJ

Publication Date: 2020-07-14

Variant appearance in text: CREBBP: 2626G>A

PubMed Link: 32674491

Variant Present in the following documents:

• cancers-12-01903.pdf

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