Familial Melanoma

Familial Melanoma

Approximately 10-20% of melanoma cases have a positive family history and those with ≥3 closely-related affected family members, and with younger ages of diagnosis, are considered to be familial. In these families, ~40% are explained by mutations in known causal melanoma genes.

About the study:

Individuals at high risk of familial melanoma are recruited to our studies through the familial melanoma clinic, at the Princess Alexandra Hospital Brisbane, where they consent to whole exome sequencing analysis. We analyse their genetic data and offer 3D total-body-imaging (VECTRA WB360) to investigate moles and lesions that may be of interest as part of a melanoma screening and surveillance program. We aim to identify specific dermatological markers (e.g., high number of moles on certain body sites, number of moles in sun exposed vs non-sun exposed areas) to see if there are characteristics that indicate an individual has a genetic mutation that increases their risk of developing melanoma.

Contact us: igmgenomics@uq.edu.au

Publications

Publication:

  1. Maas EJ, et., (2022) Unusual suspects in hereditary melanoma: POT1, POLE, BAP1. Trends Genet. 38(12). Available Here.

  2. Maas EJ*, Wallingford CK*, et al., (2022) Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism. J Dermatol. 49(11). Available Here.

  3. Maas EJ, et al., (2023)  GOLM1: expanding our understanding of melanoma susceptibility. J Med Genet. 60(9). Available Here.

  4. Wallingford CK*, Maas EJ*, et al., (2023) MITF E318K: A rare homozygous case with multiple primary melanoma. Pigment Cell Melanoma Res. Epub ahead of print. Available Here. 

Funding

This study is funded by an Australian Skin and Skin Cancer Research Centre Early Career Fellowship, and a Metro South Health Research Support Scheme Program Grant.