Dataset Information

Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma.

ABSTRACT:

Background

Basan syndrome is a rare autosomal-dominant ectodermal dysplasia with certain clinic-pathological features caused by mutations in the SMARCAD1 gene. Currently, no skin malignancy related to Basan syndrome has been reported. This study was aimed at identifying related gene mutations in a new Chinese pedigree with Basan syndrome and discovering the possible association between Basan syndrome and cutaneous squamous cell carcinoma (cSCC).

Methods

We report a case of Basan syndrome from China with family history of cSCC. The pedigree contains 28 individuals. Among them, 12 members had Basan syndrome, while 4 affected members were diagnosed with cSCC in the 1st and 2nd generations. Whole exome sequencing (WES) and Sanger sequencing were performed for 7 available individuals. The specific gene mutation on pre-mRNA splicing was also analyzed using in vitro Minigene assay. In addition, sequencing data was analyzed with bioinformatics workflow, aiming to discover the gene associated with cSCC.

Results

Gene sequencing results showed a heterozygous mutation, c.378+5G>A, in the SMARCAD1 gene in all tested individuals with Basan syndrome. Minigene result implicated the specific mutation may cause splicing variations by exon skipping occurring in the targeted exons.

Conclusion

To the best of our knowledge, this is the first study reported Basan syndrome with family history of cSCC. Despite in this study we cannot draw any conclusion about the association between Basan syndrome and cSCC at the genetic level, this study encourages future works to substantiate this potential but important issue.

SUBMITTER: Xiong Y

PROVIDER: S-EPMC9113868 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma.

Xiong Ying Y Chen Ting T Yu Jia J Zhou He H Lu Baozhen B Chen Lijie L Sun Liwei L Wang Can C Li Sujun S Wu Bo B

Disease markers 20220510

<h4>Background</h4>Basan syndrome is a rare autosomal-dominant ectodermal dysplasia with certain clinic-pathological features caused by mutations in the SMARCAD1 gene. Currently, no skin malignancy related to Basan syndrome has been reported. This study was aimed at identifying related gene mutations in a new Chinese pedigree with Basan syndrome and discovering the possible association between Basan syndrome and cutaneous squamous cell carcinoma (cSCC).<h4>Methods</h4>We report a case of Basan s ...[more]

PMID: 35592705

Similar Datasets

Project description:ImportanceNo study, to our knowledge, has prospectively investigated a dose-response association between lifetime indoor tanning and risk of cutaneous squamous cell carcinoma (SCC).ObjectiveTo investigate the dose-response association between lifetime indoor tanning and SCC risk, the association between duration of use and age at initiation with SCC risk, and the association between age at initiation and age at diagnosis.Design, setting, and participantsThis cohort study included data from women born from 1927 to 1963 from the Norwegian Women and Cancer study, established in 1991 with follow-up through December 31, 2015. Baseline questionnaires were issued to participants from 1991 to 2007, with follow-up questionnaires given every 5 to 7 years. Data analysis was performed from January 2, 2018, to March 2, 2019.ExposuresParticipants reported pigmentation factors. Sunburns, sunbathing vacations, and indoor tanning were reported for childhood, adolescence, and adulthood.Main outcomes and measuresInformation on all cancer diagnoses and dates of emigration or death were obtained through linkage to the Cancer Registry of Norway, using the unique personal identification number of Norwegian citizens.ResultsA total of 159 419 women (mean [SD] age at inclusion, 49.9 [8.3] years) were included in the study. During follow-up (mean [SD], 16.5 [6.4] years), 597 women were diagnosed with SCC. Risk of SCC increased with increasing cumulative number of indoor tanning sessions. The adjusted hazard ratio (HR) for highest use vs never use was 1.83 (95% CI, 1.38-2.42; P < .001 for trend). A significantly higher risk of SCC was found among women with 10 years or less of use (HR, 1.41; 95% CI, 1.08-1.85) and more than 10 years of use (HR, 1.43; 95% CI, 1.16-1.76) and among women with age at initiation of 30 years or older (HR, 1.36; 95% CI, 1.11-1.67) and younger than 30 years (HR, 1.51; 95% CI, 1.18-1.92) vs never users. No significant association was found between age at initiation and age at diagnosis (estimated regression coefficient, -0.09 [95% CI, -1.11 to 0.94] for age at initiation of ≥30 years and -0.02 [95% CI, -1.27 to 1.22] for <30 years vs never use).Conclusion and relevanceThe findings provide supporting evidence that there is a dose-response association between indoor tanning and SCC risk among women. The association between cumulative exposure to indoor tanning and SCC risk was the same regardless of duration of use and age at initiation. These results support development of policies that regulate indoor tanning.

Dataset Information

Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma.

Background

Methods

Results

Conclusion

Publications

Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma.

Similar Datasets

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