Helen Schmid
A5034174620- Cutaneous Melanoma Detection and Management
- melanin and skin pigmentation
- Skin Protection and Aging
- Cancer Genomics and Diagnostics
- Prostate Cancer Diagnosis and Treatment
- Prostate Cancer Treatment and Research
- Allergic Rhinitis and Sensitization
- Bladder and Urothelial Cancer Treatments
- Immunotherapy and Immune Responses
- Ovarian cancer diagnosis and treatment
- BRCA gene mutations in cancer
- Melanoma and MAPK Pathways
- Urologic and reproductive health conditions
- Health Systems, Economic Evaluations, Quality of Life
- Multiple and Secondary Primary Cancers
- Telomeres, Telomerase, and Senescence
- Renal cell carcinoma treatment
- Nonmelanoma Skin Cancer Studies
- Endometrial and Cervical Cancer Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Indoor Air Quality and Microbial Exposure
- Cancer Immunotherapy and Biomarkers
- CAR-T cell therapy research
- Molecular Biology Techniques and Applications
- Mast cells and histamine
The University of Sydney
2014-2024
Westmead Institute for Medical Research
2015-2024
LMU Klinikum
2024
Ludwig-Maximilians-Universität München
2024
Melanoma Institute Australia
2010-2023
Cancer Council NSW
2022-2023
UNSW Sydney
2019
Westmead Institute
1999-2019
Stiftung für Forschung in Spätantike und Mittelalter HR. Sennhauser
2016
University of Leeds
2014
So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations CDKN2A account approximately 40% cases, and predisposing mutations CDK4 reported very small number kindreds. Here we report the whole-genome sequencing probands from several families, which performed order to identify other melanoma. We one individual carrying novel germline variant (coding DNA sequence c.G1075A; protein p.E318K; rs149617956)...
Abstract Sunbed use is associated with increased risk of melanoma. Younger people might be more susceptible to the carcinogenic effects ultraviolet radiation. We investigated association between sunbed and early‐onset cutaneous malignant From Australian Melanoma Family Study, a multicentre, population‐based, case‐control‐family study, we analysed data for 604 cases diagnosed ages 18 39 years 479 controls. Data were collected by interview. Associations estimated as odds ratios (ORs) using...
Background:The shelterin complex protects chromosomal ends by regulating how the telomerase interacts with telomeres. Following recent finding in familial melanoma of inactivating germline mutations POT1, encoding a member complex, we searched for other five components families.
<h3>Importance</h3> The clinical phenotype and certain predisposing genetic mutations that confer increased melanoma risk are established; however, no consensus exists regarding optimal screening for such individuals. Early identification remains the most important intervention in reducing mortality. <h3>Objective</h3> To evaluate impact of full-body examinations every 6 months supported by dermoscopy total-body photography (TBP) on all patients sequential digital imaging (SDDI), when...
It is unclear to what degree genomic and traditional (phenotypic environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution common variants (in pigmentation, nevus, other pathways) with factors, using data from two population-based case-control studies Australia (n = 1,035) United Kingdom 1,460) that used same questionnaires. Polygenic scores were derived 21 gene regions associated odds ratios published meta-analyses. Logistic...
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16(INK4a) and CDK4) was undertaken 131 probands with a family history melanoma. Screening all three exons CDKN2A exon 2 CDK4 by single-strand conformation polymorphism (SSCP) and/or direct sequencing identified total 10 different germline mutations, including 6 not previously described the germline. All but one has been proven to, or is likely affect structure function p16(INK4a). The incidence mutation 8.4%...
Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, we estimated prevalence predictors these mutations for people from regions with widely differing latitudes melanoma incidence. Population-based cases controls United Kingdom (1586 cases, 499 controls) Australia (596 early-onset 476 controls), a hospital-based series Spain (747 109 were screened variants all exons p16INK4A binding domain CDK4. The was similar across regions:...
There are limited data among young adults on sunscreen use during childhood and adulthood the association of with melanoma risk.To assess correlates early-life between risk cutaneous before age 40 years.This population-based, case-control family study analyzed Australian Melanoma Family Study for persons questionnaire collected by interview from 2001 to 2005 across 3 states in Australia, representing two-thirds country's population. Case participants (aged 18-39 years) had confirmed first...
A previous single-center study observed fewer excisions, lower health care costs, thinner melanomas, and better quality of life when surveillance high-risk patients was conducted in a melanoma dermatology clinic with structured protocol involving full-body examinations every 6 months aided by total-body photography (TBP) sequential digital dermoscopy imaging (SDDI).To examine longer-term sustainability expansion the program to numerous practices, including primary skin cancer setting.This...
Abstract Genome wide association studies (GWAS) have mapped multiple independent cancer susceptibility loci to chr5p15.33. Here, we show that fine-mapping of pancreatic and testicular GWAS within one these (Region 2 in CLPTM1L ) focuses the signal nine highly correlated SNPs. Of these, rs36115365-C associated with increased but decreased lung melanoma risk, exhibited preferred protein-binding enhanced regulatory activity. Transcriptional gene silencing this element repressed TERT expression...
Discovering and understanding genetic risk factors for melanoma their interactions with phenotype, sun exposure, other could lead to new strategies control. This paper describes the Australian Melanoma Family Study, which uses a multicenter, population-based, case-control-family design. From 2001 2005, authors recruited 1,164 probands including 629 cases histopathologically confirmed, first-primary cutaneous diagnosed before age 40 years, 240 population-based controls frequency matched age,...
Background CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude is uncertain. Methods The study estimated hazard ratio (HR) and average age specific cumulative (ie, penetrance) reported melanoma for mutation carriers in case families using modified segregation analysis first higher degree relatives 35 population-based cases. sample included 223 13 cases diagnosed when aged 18–39 years from Melbourne, Sydney Brisbane, Australia, 322 22 at any Yorkshire, UK....
Melanocortin-1 receptor (MC1R) gene variants are very common and associated with melanoma risk, but their contribution to risk prediction compared traditional factors is unknown. We aimed 1) evaluate the separate incremental of MC1R genotype early-onset melanoma, compare this contributions physician-measured self-reported factors, 2) develop models that include MC1R, externally validate these using an independent dataset from a genetically similar population.Using data Australian...
Summary Sex determination in Drosophila depends on the ratio of X chromosomes to sets autosomes (X:A). This chromosomal signal is used regulate a few control genes whose state activity selects either male or female sexual pathway. We have studied structure and function dsx (double sex) which appears be last regulatory gene pathway eventually depends. mutagenized locus, varied doses dominant -mutations wildtype alleles, combined different -alleles with recessive mutations other...
Abstract The contribution of melanocortin‐1 receptor ( MC1R ) gene variants to the development early‐onset melanoma is unknown. Using an Australian population‐based, case‐control‐family study, we sequenced for 565 cases with invasive cutaneous diagnosed between ages 18 and 39 years, 409 unrelated controls 518 sibling controls. Variants were classified a priori into “R” (D84E, R142H, R151C, I155T, R160W, D294H) “r” (all other nonsynonymous variants). We estimated odds ratios (OR) using...
Spitzoid morphology in familial melanoma has been associated with germline variants
Awareness of individual risk may encourage improved prevention and early detection melanoma.We evaluated the accuracy self-reported pigmentation nevus phenotype compared with clinical assessment, examined agreement between counts from selected anatomical regions. The sample included 456 cases invasive cutaneous melanoma diagnosed ages 18 to 39 years 538 controls population-based Australian Melanoma Family Study. Participants completed a questionnaire about their phenotype, attended...
Germline mutations of BRCA1 and BRCA2 predispose individuals to a high risk breast ovarian cancer, elevated other cancers, including those the pancreas prostate. mutation carriers may have increased uveal melanoma (UM) cutaneous (CM), but associations with these cancers in been mixed. Here, we further assessed whether UM CM are associated or by assessing presence, segregation reported/predicted pathogenicity rare germline (variant allele frequency < 0.01) families multiple members affected...
In Australia, melanoma is managed in primary and secondary care settings. An individual concerned about a suspicious lesion typically presents first to their GP.To identify factors influencing GPs' decisions diagnose, treat, or refer patients with suspected melanoma.Semi-structured interviews were undertaken 23 GPs working general practice skin cancer clinics Australia.The semi-structured audio-recorded, de-identified, professionally transcribed. Thematic analysis was used analyse the...
Abstract Objectives Somatostatin receptor positron emission tomography/computed tomography (SSTR-PET/CT) using [ 68 Ga]-labeled tracers is a widely used imaging modality for neuroendocrine tumors (NET). Recently, 18 F]SiTATE, SiFAlin tagged [Tyr3]-octreotate (TATE) PET tracer, has shown great potential due to favorable clinical characteristics. We aimed evaluate the reproducibility of Receptor-Reporting and Data System 1.0 (SSTR-RADS 1.0) structured interpretation treatment planning NET...