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: DICER1: S678F; rs544623004

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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: DICER1: 2033C>T; S678F

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.

Scientific Reports

Hagio, Kanako K; Amano, Toraji T; Hayashi, Hideyuki H; Takeshita, Takashi T; Oshino, Tomohiro T; Kikuchi, Junko J; Ohhara, Yoshihito Y; Yabe, Ichiro I; Kinoshita, Ichiro I; Nishihara, Hiroshi H; Yamashita, Hiroko H

Publication Date: 2021-04-14

Variant appearance in text: DICER1: S678F

PubMed Link: 33854152

Variant Present in the following documents:

• Main text
• 41598_2021_Article_87645.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: DICER1: 2033C>T; S678F

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page