Determining the somatic mutation and immune landscape of sebaceous skin lesions

This project will involve analysis of large-scale sequencing data of both tumour and germline DNA samples.

Sebaceous neoplasms describe rare skin tumours involving the sebaceous glands and frequently occur on sun exposed areas of the body. Risk factors for the sebaceous neoplasia include a history of irradiation, immunosuppression, familial retinoblastoma and an inherited cancer syndrome known as Lynch syndrome.  Although subtypes of sebaceous neoplasms based on histopathological and mismatch repair deficiency (MMR-deficiency) have been identified, classification based on genomic features and the involvement of immune cells within sebaceous neoplasms have not been previously characterised.

This project aims to detail the somatic mutation landscape and immune microenvironment of sebaceous neoplasms using tumour and matched germline paired whole-exome sequencing data and multiple immune cell markers via immunohistochemical testing, respectively, to explore:

  1. Detail the landscape of somatic mutations in sebaceous neoplasms from MMR-deficient and MMR-proficient and histopathological subtypes;
  2. Analyse the spectrum of tumour mutational signatures and their association with various molecular and genetic phenotypes of sebaceous neoplasms; and
  3. Identify the immune cell contexture across genomic and histopathological subtypes.

The outcome of this project will have significant international impact through the development of detailed characterisation of differences in the somatic mutation and immune landscape of subtypes of sebaceous neoplasia, with the potential to identify genomic and/or immune cell biomarkers for diagnosis of lesions caused by inherited mutations (Lynch syndrome) and treatment.

This project will involve analysis of large-scale sequencing data of both tumour and germline DNA samples and would suit a student who is interested in somatic variant calling and integrating these data to decipher associations with tumour molecular features and phenotypes.  The student will develop expertise in genomics, histology, bioinformatic and statistical analysis.  A stipend for this project is available to the selected student.

Contact and more information

Primary supervisor

Associate Professor Daniel Buchanan


Dr Khalid Mahmood

Colorectal Oncogenomics Group
University of Melbourne Centre for Cancer Research and Department of Clinical Pathology

Level 10, Victorian Comprehensive Cancer Centre