PMID- 32479654
OWN - NLM
STAT- MEDLINE
DCOM- 20220215
LR  - 20220215
IS  - 1600-0625 (Electronic)
IS  - 0906-6705 (Linking)
VI  - 29
IP  - 7
DP  - 2020 Jul
TI  - Next-generation sequencing identifies novel single nucleotide polymorphisms in 
      high-risk cutaneous squamous cell carcinoma: A pilot study.
PG  - 667-671
LID - 10.1111/exd.14120 [doi]
AB  - BACKGROUND: 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. PREMISE: 
      There may be biologically relevant SNPs not detected using traditional GWAS 
      studies. HYPOTHESIS: There are clinically and biologically relevant SNPs in 
      high-risk SCC that may only be appreciated with next-generation sequencing. HOW 
      TO TEST HYPOTHESIS: 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). RELEVANCE AND PERSPECTIVES: 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.
CI  - (c) 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Lobl, Marissa B
AU  - Lobl MB
AUID- ORCID: 0000-0002-8128-613X
AD  - Department of Dermatology, University of Nebraska Medical Center, Omaha, NE, USA.
FAU - Hass, Blake
AU  - Hass B
AD  - College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
FAU - Clarey, Dillon
AU  - Clarey D
AD  - Department of Dermatology, University of Nebraska Medical Center, Omaha, NE, USA.
FAU - Higgins, Shauna
AU  - Higgins S
AD  - Department of Dermatology, University of Nebraska Medical Center, Omaha, NE, USA.
AD  - Department of Dermatology, Keck School of Medicine, University of Southern 
      California, Los Angeles, CA, USA.
FAU - Wysong, Ashley
AU  - Wysong A
AD  - Department of Dermatology, University of Nebraska Medical Center, Omaha, NE, USA.
AD  - Department of Dermatology, Keck School of Medicine, University of Southern 
      California, Los Angeles, CA, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200709
PL  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 0 (Phosphoproteins)
RN  - 0 (RNA Splicing Factors)
RN  - 0 (SF3B1 protein, human)
RN  - EC 2.7.10.1 (KIT protein, human)
RN  - EC 2.7.10.1 (Proto-Oncogene Proteins c-kit)
SB  - IM
MH  - Carcinoma, Squamous Cell/*genetics
MH  - DNA Mutational Analysis
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Mutation, Missense
MH  - Phosphoproteins/genetics
MH  - Pilot Projects
MH  - *Polymorphism, Single Nucleotide
MH  - Proto-Oncogene Proteins c-kit/genetics
MH  - RNA Splicing Factors/genetics
MH  - Risk Factors
MH  - Skin Neoplasms/*genetics
OTO - NOTNLM
OT  - SNPs
OT  - cutaneous squamous cell carcinoma
OT  - genomics
OT  - high-risk
EDAT- 2020/06/02 06:00
MHDA- 2022/02/16 06:00
CRDT- 2020/06/02 06:00
PHST- 2020/05/18 00:00 [revised]
PHST- 2020/01/02 00:00 [received]
PHST- 2020/05/25 00:00 [accepted]
PHST- 2020/06/02 06:00 [pubmed]
PHST- 2022/02/16 06:00 [medline]
PHST- 2020/06/02 06:00 [entrez]
AID - 10.1111/exd.14120 [doi]
PST - ppublish
SO  - Exp Dermatol. 2020 Jul;29(7):667-671. doi: 10.1111/exd.14120. Epub 2020 Jul 9.