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Grant Details

Grant Number: 5R01CA241623-04 Interpret this number
Primary Investigator: Choquet, Helene
Organization: Kaiser Foundation Research Institute
Project Title: The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility
Fiscal Year: 2023


Modified Project Summary/Abstract Section Keratinocyte carcinoma (KC), comprised of basal cell carcinoma and squamous cell carcinoma, is the most common malignancy in the United States, afflicting approximately 3 million Americans annually. The treatment of KCs is among the most costly of all cancers. Both basal cell carcinoma and squamous cell carcinoma derive from epidermal keratinocytes, but despite sharing the same cell of origin, these two keratinocyte carcinomas diverge along distinct oncogenic pathways. Risk factors for KCs include innate factors, such as genetic risk loci and fair pigmentation, and environmental exposures, including sun exposure, smoking, and immunosuppression. Recently, genetic association studies have begun to reveal specific genetic risk factors underlying KCs. However, there remains a gap in our understanding of which of these KC genetic risk loci affect the risk of KC in general and which affect susceptibility to basal cell carcinoma and squamous cell carcinoma specifically, how these loci are influenced by environmental exposures, and how these loci impact aggressive and high burden KCs. This study will determine whether KC genetic risk loci have effects that are specific to basal cell carcinoma or squamous cell carcinoma, or are shared across these two types of KC. We will further evaluate how environmental factors, including sun exposure, smoking, and immunosuppression influences these risks. Finally, we will develop a risk prediction model of high burden KCs, that builds on our recently developed risk prediction tool for squamous cell carcinoma, cSCCscore. This tool will improve our understanding of KC pathogenesis and help guide cancer screening decisions


Association between lifetime smoking and cutaneous squamous cell carcinoma: A 2-sample Mendelian randomization study.
Authors: Lee T. , George C.D. , Jiang C. , Asgari M.M. , Nijsten T. , Pardo L.M. , Choquet H. .
Source: JAAD international, 2024 Mar; 14, p. 69-76.
EPub date: 2023-12-03.
PMID: 38274396
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Genetically Predicted Serum Vitamin C Levels and Cutaneous Squamous Cell Carcinoma Risk.
Authors: Kim Y. , Yin J. , Le Breton S. , Jorgenson E. , Huang H. , Choquet H. , Asgari M.M. .
Source: The Journal of investigative dermatology, 2023 Apr; 143(4), p. 664-667.
EPub date: 2022-11-05.
PMID: 36343677
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Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.
Authors: Choquet H. , Li W. , Yin J. , Bradley R. , Hoffmann T.J. , Nandakumar P. , 23 and Me Research Team , Mostaedi R. , Tian C. , Ahituv N. , et al. .
Source: Human molecular genetics, 2022-07-07; 31(13), p. 2279-2293.
PMID: 35022708
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Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.
Authors: Kim Y. , Yin J. , Huang H. , Jorgenson E. , Choquet H. , Asgari M.M. .
Source: Communications biology, 2022-04-21; 5(1), p. 386.
EPub date: 2022-04-21.
PMID: 35449187
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A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping.
Authors: Tapia A.L. , Rowland B.T. , Rosen J.D. , Preuss M. , Young K. , Graff M. , Choquet H. , Couper D.J. , Buyske S. , Bien S.A. , et al. .
Source: Genetic epidemiology, 2022 Feb; 46(1), p. 3-16.
EPub date: 2021-11-15.
PMID: 34779012
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New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.
Authors: Choquet H. , Yin J. , Jacobson A.S. , Horton B.H. , Hoffmann T.J. , Jorgenson E. , Avins A.L. , Pressman A.R. .
Source: Communications biology, 2021-07-22; 4(1), p. 864.
EPub date: 2021-07-22.
PMID: 34294844
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A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.
Authors: Choquet H. , Melles R.B. , Anand D. , Yin J. , Cuellar-Partida G. , Wang W. , 23andMe Research Team , Hoffmann T.J. , Nair K.S. , Hysi P.G. , et al. .
Source: Nature communications, 2021-06-14; 12(1), p. 3595.
EPub date: 2021-06-14.
PMID: 34127677
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Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
Authors: Currant H. , Hysi P. , Fitzgerald T.W. , Gharahkhani P. , Bonnemaijer P.W.M. , Senabouth A. , Hewitt A.W. , UK Biobank Eye and Vision Consortium , International Glaucoma Genetics Consortium , Atan D. , et al. .
Source: PLoS genetics, 2021 May; 17(5), p. e1009497.
EPub date: 2021-05-12.
PMID: 33979322
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Cigarette smoking behaviors and the importance of ethnicity and genetic ancestry.
Authors: Choquet H. , Yin J. , Jorgenson E. .
Source: Translational psychiatry, 2021-02-11; 11(1), p. 120.
EPub date: 2021-02-11.
PMID: 33633108
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Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.
Authors: Jorgenson E. , Choquet H. , Yin J. , Hoffmann T.J. , Banda Y. , Kvale M.N. , Risch N. , Schaefer C. , Asgari M.M. .
Source: Communications biology, 2020-12-14; 3(1), p. 765.
EPub date: 2020-12-14.
PMID: 33318654
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Risk of keratinocyte carcinoma among patients with hidradenitis suppurativa.
Authors: Ashrafzadeh S. , Kim Y. , Peters G.A. , Lee H. , Asgari M.M. .
Source: The British journal of dermatology, 2020 Nov; 183(5), p. 962-964.
EPub date: 2020-07-09.
PMID: 32473027
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Developing a risk prediction model for keratinocyte carcinoma in patients with actinic keratosis.
Authors: Kim Y. , Jorgenson E. , Asgari M.M. .
Source: The British journal of dermatology, 2020 Sep; 183(3), p. 415-416.
EPub date: 2020-05-10.
PMID: 32390191
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Genetic and environmental factors underlying keratinocyte carcinoma risk.
Authors: Choquet H. , Ashrafzadeh S. , Kim Y. , Asgari M.M. , Jorgenson E. .
Source: JCI insight, 2020-05-21; 5(10), .
EPub date: 2020-05-21.
PMID: 32434987
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Common Mitochondrial Haplogroups and Cutaneous Squamous Cell Carcinoma Risk.
Authors: Jorgenson E. , Choquet H. , Yin J. , Asgari M.M. .
Source: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2018 Jul; 27(7), p. 838-841.
EPub date: 2018-04-25.
PMID: 29695379
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