ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2016
A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer.International journal of epidemiology · 2021Pooled it
- Combined analysis of keratinocyte cancers identifies novel genome-wide loci.Human molecular genetics · 2019Pooled it
- Selection signatures associated with adaptation in South African Drakensberger, Nguni, and Tuli beef breeds.Tropical animal health and production · 2024Article
- Advancing Cancer Research: Current Knowledge on Cutaneous Neoplasia.International journal of molecular sciences · 2023Review
- Interventions After First Post-Transplant Cutaneous Squamous Cell Carcinoma: A Proposed Decision Framework.Transplant international : official journal of the European Society for Organ Transplantation · 2022Review
- Loss of retinoic acid receptor-related receptor alpha (Rorα) promotes the progression of UV-induced cSCC.Cell death & disease · 2021Article
- Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test.Frontiers in genetics · 2021Article
- Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.Communications biology · 2020Article
- Review
- Cutaneous Photoprotection: A Review of the Current Status and Evolving Strategies.The Yale journal of biology and medicine · 2020Review
- Genome-wide association studies and polygenic risk scores for skin cancer: clinically useful yet?The British journal of dermatology · 2019Review
- Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.PLoS genetics · 2019Article
- Uncommon Presentation of Metastatic Squamous Cell Carcinoma of the Skin and Treatment Challenges.The American journal of case reports · 2019Article
- Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.Nature communications · 2018Article
- Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.The Journal of investigative dermatology · 2018Article
- Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.The Journal of investigative dermatology · 2018Article
- A GWAS of Cutaneous Squamous Cell Carcinoma-Letter.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2016Article
- Epidemiological Assessments of Skin Outcomes in the Nurses' Health Studies.American journal of public health · 2016Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNo GWAS on the risk of cutaneous squamous cell carcinoma (SCC) has been published. We conducted a multistage genome-wide association study (GWAS) to identify novel genetic loci for SCC.
methodsThe study included 745 SCC cases and 12,805 controls of European descent in the discovery stage and 531 SCC cases and 551 controls of European ancestry in the replication stage. We selected 64 independent loci that showed the most significant associations with SCC in the discovery stage (linkage disequilibrium r(2) < 0.4) for replication.
resultsRs8063761 in the DEF8 gene on chromosome 16 showed the strongest association with SCC (P = 1.7 × 10(-9) in the combined set; P = 1.0 × 10(-6) in the discovery set and P = 4.1 × 10(-4) in the replication set). The variant allele of rs8063761 (T allele) was associated with a decreased expression of DEF8 (P = 1.2 × 10(-6)). Besides, we validated four other SNPs associated with SCC in the replication set, including rs9689649 in PARK2 gene (P = 2.7 × 10(-6) in combined set; P = 3.2 × 10(-5) in the discovery; and P = 0.02 in the replication), rs754626 in the SRC gene (P = 1.1 × 10(-6) in combined set; P = 1.4 × 10(-5) in the discovery and P = 0.02 in the replication), rs9643297 in ST3GAL1 gene (P = 8.2 × 10(-6) in combined set; P = 3.3 × 10(-5) in the discovery; and P = 0.04 in the replication), and rs17247181 in ERBB2IP gene (P = 4.2 × 10(-6) in combined set; P = 3.1 × 10(-5) in the discovery; and P = 0.048 in the replication).
conclusionSeveral genetic variants were associated with risk of SCC in a multistage GWAS of subjects of European ancestry. IMPACT: Further studies are warranted to validate our finding and elucidate the genetic function of these variants. Cancer Epidemiol Biomarkers Prev; 25(4); 714-20. ©2016 AACR.
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