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: R559W; rs753784391

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Complete Response to Pembrolizumab in Advanced Colon Cancer Harboring Somatic POLE F367S Mutation with Microsatellite Stability Status: A Case Study.

Oncotargets And Therapy

Chen, Jianxin J; Lou, Haizhou H

Publication Date: 2021

Variant appearance in text: POLE: R559W

PubMed Link: 33727829

Variant Present in the following documents:

• Main text

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A Phase II Study of Avelumab Monotherapy in Patients with Mismatch Repair-Deficient/Microsatellite Instability-High or POLE-Mutated Metastatic or Unresectable Colorectal Cancer.

Cancer Research And Treatment

Kim, Jwa Hoon JH; Kim, Sun Young SY; Baek, Ji Yeon JY; Cha, Yong Jun YJ; Ahn, Joong Bae JB; Kim, Han Sang HS; Lee, Keun-Wook KW; Kim, Ji-Won JW; Kim, Tae-You TY; Chang, Won Jin WJ; Park, Joon Oh JO; Kim, Jihun J; Kim, Jeong Eun JE; Hong, Yong Sang YS; Kim, Yeul Hong YH; Kim, Tae Won TW

Publication Date: 2020-10

Variant appearance in text: POLE: R559W

PubMed Link: 32340084

Variant Present in the following documents:

• Main text
• crt-2020-218.pdf

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: POLE: R559W

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: POLE: 1675C>T; R559W

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page