Department of Dermatology, University of Nebraska Medical Center, Omaha, NE, USA.
College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
Exp Dermatol. 2020 Jul;29(7):667-671. doi: 10.1111/exd.14120. Epub 2020 Jul 9.
Cutaneous squamous cell carcinoma (SCC) causes 1 million cases in the United States annually. There are germline single nucleotide polymorphisms (SNPs) that result in an increased risk of SCC and altered response to therapy.
There may be biologically relevant SNPs not detected using traditional GWAS studies.
There are clinically and biologically relevant SNPs in high-risk SCC that may only be appreciated with next-generation sequencing.
We performed next-generation sequencing (NGS) on primary SCCs using a targeted mutation panel with 76 cancer-associated genes. We analysed the presence of SNPs in a cohort of 20 high-risk SCCs compared to the American population (AP) (dbSNP).
Missense rs3822214 was present in significantly more SCC cases versus the AP. While the remainder is synonymous SNPs, there is growing evidence suggesting clinical relevance of these variants. A larger cohort to validate these findings would be useful.
在美国，每年有 100 万人患有皮肤鳞状细胞癌 (SCC)。存在导致 SCC 风险增加和治疗反应改变的种系单核苷酸多态性 (SNP)。
可能存在使用传统全基因组关联研究无法检测到的具有生物学意义的 SNP。
高危 SCC 中有临床和生物学意义的 SNP，只有通过下一代测序才能发现。
我们使用针对 76 个癌症相关基因的靶向突变面板对原发性 SCC 进行了下一代测序 (NGS)。我们分析了与美国人群 (AP) (dbSNP) 相比，20 例高危 SCC 中 SNP 的存在情况。
错义 rs3822214 在 SCC 病例中明显多于 AP。虽然其余的是同义 SNP，但越来越多的证据表明这些变体具有临床相关性。验证这些发现的更大队列将是有用的。
