Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

Ellie J Maas; Brigid Betz-Stablein; Lauren G Aoude; H Peter Soyer; Aideen M McInerney-Leo

doi:10.1016/j.tig.2022.06.007

Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

Trends Genet. 2022 Dec;38(12):1204-1207. doi: 10.1016/j.tig.2022.06.007. Epub 2022 Jul 7.

Authors

Ellie J Maas¹, Brigid Betz-Stablein², Lauren G Aoude³, H Peter Soyer⁴, Aideen M McInerney-Leo⁵

Affiliations

¹ The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia. Electronic address: [email protected].
² The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
³ The University of Queensland Diamantina Institute, The University of Queensland, Surgical Oncology Group, Queensland, Australia.
⁴ The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia; Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
⁵ The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia. Electronic address: [email protected].

PMID: 35811174
DOI: 10.1016/j.tig.2022.06.007

Abstract

Systematic literature searches on POT1/POLE/BAP1 found that limited skin phenotypic characteristics have been documented in mutation carriers; 248 variants were annotated, and high-cluster variant regions associated with cutaneous melanoma were found in all three genes. Genotype-phenotype correlations can be used to identify patient disease predisposition based on mutation position and cluster regions.

Keywords: BAP1; POLE; POT1; hereditary; melanoma.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Genetic Predisposition to Disease
Germ-Line Mutation / genetics
Humans
Melanoma* / genetics
Melanoma, Cutaneous Malignant
Skin Neoplasms* / genetics
Telomere-Binding Proteins / genetics
Tumor Suppressor Proteins / genetics
Ubiquitin Thiolesterase / genetics

Substances

BAP1 protein, human
POT1 protein, human
Telomere-Binding Proteins
Tumor Suppressor Proteins
Ubiquitin Thiolesterase
POLE protein, human