Publications:

Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V

Publication Date: 2023-04-18

Variant appearance in text: POLE: T483A

PubMed Link: 37071497

Variant Present in the following documents:

• ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6

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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: POLE: T483A; rs777736640

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: POLE: 1447A>G; T483A; rs777736640

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Distinctive genomic characteristics in POLE/POLD1-mutant cancers can potentially predict beneficial clinical outcomes in patients who receive immune checkpoint inhibitor.

Annals Of Translational Medicine

He, Junjun J; Ouyang, Wei W; Zhao, Wugan W; Shao, Lin L; Li, Bing B; Liu, Bihao B; Wang, Dejuan D; Han-Zhang, Han H; Zhang, Zhou Z; Shao, Liang L; Li, Wencai W

Publication Date: 2021-01

Variant appearance in text: POLE: T483A

PubMed Link: 33569431

Variant Present in the following documents:

• Main text
• atm-09-02-129.pdf

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