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3 results on '"Ellie J. Maas"'

1. Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

Author

Clare A. Primiero, Amy M. Baker, Courtney K. Wallingford, Ellie J. Maas, Tatiane Yanes, Lindsay Fowles, Monika Janda, Mary-Anne Young, Amy Nisselle, Bronwyn Terrill, Jason M. Lodge, Jane M. Tiller, Paul Lacaze, Hayley Andersen, Gemma McErlean, Erin Turbitt, H. Peter Soyer, and Aideen M. McInerney-Leo

Subjects
genetics, genomics, dermatology, mainstreaming, familial melanoma, Genetics, QH426-470
Abstract

Background: Melanoma genetic testing reportedly increases preventative behaviour without causing psychological harm. Genetic testing for familial melanoma risk is now available, yet little is known about dermatologists’ perceptions regarding the utility of testing and genetic testing ordering behaviours.Objectives: To survey Australasian Dermatologists on the perceived utility of genetic testing, current use in practice, as well as their confidence and preferences for the delivery of genomics education.Methods: A 37-item survey, based on previously validated instruments, was sent to accredited members of the Australasian College of Dermatologists in March 2021. Quantitative items were analysed statistically, with one open-ended question analysed qualitatively. Results: The response rate was 56% (256/461), with 60% (153/253) of respondents between 11 and 30 years post-graduation. While 44% (112/252) of respondents agreed, or strongly agreed, that genetic testing was relevant to their practice today, relevance to future practice was reported significantly higher at 84% (212/251) (t = -9.82, p < 0.001). Ninety three percent (235/254) of respondents reported rarely or never ordering genetic testing. Dermatologists who viewed genetic testing as relevant to current practice were more likely to have discussed (p < 0.001) and/or offered testing (p < 0.001). Respondents indicated high confidence in discussing family history of melanoma, but lower confidence in ordering genetic tests and interpreting results. Eighty four percent (207/247) believed that genetic testing could negatively impact life insurance, while only 26% (63/244) were aware of the moratorium on using genetic test results in underwriting in Australia. A minority (22%, 55/254) reported prior continuing education in genetics. Face-to-face courses were the preferred learning modality for upskilling.Conclusion: Australian Dermatologists widely recognise the relevance of genetic testing to future practice, yet few currently order genetic tests. Future educational interventions could focus on how to order appropriate genetic tests and interpret results, as well as potential implications on insurance.

Published
2022
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2. Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

Author

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

Subjects
Skin Neoplasms, Tumor Suppressor Proteins, Telomere-Binding Proteins, Genetics, Humans, Genetic Predisposition to Disease, Melanoma, Ubiquitin Thiolesterase, Germ-Line Mutation
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.

Published
2022
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3. Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism

Author

Ellie J. Maas, Courtney K. Wallingford, Jessica J. McGuire, Chantal Rutjes, Darren J. Smit, Brigid Betz‐Stablein, Richard A. Sturm, H. Peter Soyer, and Aideen M. McInerney‐Leo

Subjects
Male, Skin Neoplasms, Albinism, Oculocutaneous, Monophenol Monooxygenase, Mutation, Humans, Membrane Transport Proteins, Female, Melanoma, Amelanotic, Dermatology, General Medicine, Pedigree
Abstract

Oculocutaneous albinism (OCA) is a rare condition characterized by hypopigmentation. A female proband and her sister, both with primary amelanotic/hypopigmented melanoma, underwent three-dimensional total-body photography and dermoscopy. Both sisters had exome sequencing along with their brother, who had OCA but no history of melanoma. Imaging analysis was consistent with OCA in terms of individual typology angle scores, degree of sun damage, and high naevus counts. Exome data filtered for variants in known OCA and melanoma/naevi susceptibility genes (n = 98) found all siblings were compound heterozygous for TYR mutations (Arg402Ter and Val275Phe), previously reported as causative OCA variants. A rare missense variant in PARP1 (p.Pro377Ser) was solely present in the melanoma-unaffected brother, which is noteworthy as this was previously reported as potentially protective in a familial melanoma pedigree positive for CDKN2A mutations. Evaluation and confirmation of functional impact in larger cohorts could personalize melanoma screening in OCA.

Published
2022
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