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: POLE: P856H; rs764120735

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: POLE: P856H

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine

Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q

Publication Date: 2021-09

Variant appearance in text: POLE: P856H

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 6
• CTM2-11-e524-s001.xlsx, sheet 2

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Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology

León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB

Publication Date: 2020-03

Variant appearance in text: POLE: 2567C>A; P856H

PubMed Link: 31829442

Variant Present in the following documents:

• PATH-250-323-s002.xlsx, sheet 2

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