Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. Nat Commun. 2016 Aug 19;7:12510.

 We used a two-stage genome-wide association meta-analysis with a total of 7,404 cases and 292,076 controls from the 23andMe research participant cohort and the Nurse's Health/Health Professional Study to identify new genes and pathways involved in basal cell carcinoma risk. These data shed light on new pathways involved in basal cell cancer risk and development. 

Correlates of multiple basal cell carcinoma in a retrospective cohort study: Sex, histologic subtypes, and anatomic distribution. JAAD. 2017 April 6. 

In this paper, we analyze 3,392 BCCs in 1,419 patients at a single-center institution to characterize high-frequency BCCs, defined as 6 or more BCCs in a 10 year observation period. We identify male gender as an extremely strong independent risk factor in high-frequency BCCs with a male to female ratio of 4:1 and characterize anatomic distribution and histologic subtype for these high-frequency BCCs. We hope that our findings add a perspective in risk stratification and identification of patients at highest risk of developing high-frequency BCCs.

  Image from findacure.org.uk

Image from findacure.org.uk

Identification of alpha-adrenergic agonists as potential therapeutic agents for dermatomyositis through drug-repurposing using public expression datasets 

In this paper, we applied a computational integrative approach comparing microarray data from 38 dermatomyositis (DM) skin biopsies to molecular data from over 1,600 U.S. Food and Drug Administration-approved drugs and identified alpha-adrenergic agonists as potential therapeutic agents for cutaneous DM. A pilot trial of alpha-adrenergic agonists revealed marked efficacy in three patients with cutaneous DM.

Postzygotic Mutations in Beta-Actin are Associated with Becker's Nevus and Becker's Nevus Syndrome. J Invest Dermatol. 2017 Mar 24

Using exome sequencing and targeted deep amplicon sequencing, we identified a novel hot spot mutation in the Beta-actin gene underlying a common childhood birthmark called a Becker's nevus. This mutation is present in smooth muscle and activates the Hh signaling pathway. 

Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. Oncotarget. 2017 Mar 14;8(11):17586-17592.

This genome wide association study quickly replicated 21 genetic variants associated with melanoma that were identified from seven other studies. In addition, the study found one novel variant near a gene region known as BASP1 which could be protective against melanoma. The researchers found that in individuals with this form of cancer, the expression of BASP1 was suppressed, conferring an almost two-fold increased risk.

Mutations in the Kinetochore Gene KNSTRN in Basal Cell Carcinoma. J Invest Dermatol. 2015 Dec;135(12):3197-200.

Basal cell carcinoma is the most common cancer affecting 3 million people annually in the United States. We used exome sequencing to uncover mutations in the  oncogene KNSTRN. In basal cell cancers, the KNSTRN S24F mutation led to genomic instability explaining a mechanism by which this oncogene promotes tumor progression.  

Smoothened variants explain the majority of drug resistance in basal cell carcinoma. Cancer Cell. 2015 Mar 9;27(3):342-53.