Publications:

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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: KIT: I748T; rs572852980

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: KIT: 2243T>C; I748T; rs572852980

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

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Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

Oncotarget

Cosgarea, Ioana I; Ugurel, Selma S; Sucker, Antje A; Livingstone, Elisabeth E; Zimmer, Lisa L; Ziemer, Mirjana M; Utikal, Jochen J; Mohr, Peter P; Pfeiffer, Christiane C; Pföhler, Claudia C; Hillen, Uwe U; Horn, Susanne S; Schadendorf, Dirk D; Griewank, Klaus G KG; Roesch, Alexander A

Publication Date: 2017-06-20

Variant appearance in text: KIT: I748T

PubMed Link: 28380455

Variant Present in the following documents:

• Main text
• oncotarget-08-40683.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: KIT: I748T

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: KIT: I748T

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Acute myeloid leukemia with the t(8;21) translocation: clinical consequences and biological implications.

Journal Of Biomedicine & Biotechnology

Reikvam, Håkon H; Hatfield, Kimberley Joanne KJ; Kittang, Astrid Olsnes AO; Hovland, Randi R; Bruserud, Øystein Ø

Publication Date: 2011

Variant appearance in text: KIT: I748T

PubMed Link: 21629739

Variant Present in the following documents:

• JBB2011-104631.pdf

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AML1-ETO and C-KIT mutation/overexpression in t(8;21) leukemia: implication in stepwise leukemogenesis and response to Gleevec.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Yue-Ying YY; Zhou, Guang-Biao GB; Yin, Tong T; Chen, Bing B; Shi, Jing-Yi JY; Liang, Wen-Xue WX; Jin, Xiao-Long XL; You, Jian-Hua JH; Yang, Guang G; Shen, Zhi-Xiang ZX; Chen, Jue J; Xiong, Shu-Min SM; Chen, Guo-Qiang GQ; Xu, Feng F; Liu, Yi-Wei YW; Chen, Zhu Z; Chen, Sai-Juan SJ

Publication Date: 2005-01-25

Variant appearance in text: CD117: I748T

PubMed Link: 15650049

Variant Present in the following documents:

• Main text

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