857 results on '"Cust, Anne"'
Search Results
2. Public Preferences for Genetic and Genomic Risk-Informed Chronic Disease Screening and Early Detection: A Systematic Review of Discrete Choice Experiments
- Author
-
Salisbury, Amber, Ciardi, Joshua, Norman, Richard, Smit, Amelia K., Cust, Anne E., Low, Cynthia, Caruana, Michael, Gordon, Louisa, Canfell, Karen, Steinberg, Julia, and Pearce, Alison
- Published
- 2024
- Full Text
- View/download PDF
3. Association of functional, inherited vitamin D-binding protein variants with melanoma-specific death.
- Author
-
Gallagher, Richard, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Edmiston, Sharon, Conway, Kathleen, Ollila, David, Begg, Colin, Berwick, Marianne, Ward, Sarah, Orlow, Irene, Gibbs, David, Thomas, Nancy, Kanetsky, Peter, Luo, Li, Busam, Klaus, Cust, Anne, and Anton-Culver, Hoda
- Subjects
Humans ,Vitamin D-Binding Protein ,Vitamin D ,Polymorphism ,Single Nucleotide ,Melanoma - Abstract
BACKGROUND: It is unclear whether genetic variants affecting vitamin D metabolism are associated with melanoma prognosis. Two functional missense variants in the vitamin D-binding protein gene (GC), rs7041 and rs4588, determine 3 common haplotypes, Gc1s, Gc1f, and Gc2, of which Gc1f may be associated with decreased all-cause death among melanoma patients based on results of a prior study, but the association of Gc1f with melanoma-specific death is unclear. METHODS: We investigated the association of the Gc1s, Gc1f, and Gc2 haplotypes with melanoma-specific and all-cause death among 4490 individuals with incident, invasive primary melanoma in 2 population-based studies using multivariable Cox-proportional hazards regression. RESULTS: In the pooled analysis of both datasets, the patients with the Gc1f haplotype had a 37% lower risk of melanoma-specific death than the patients without Gc1f (hazard ratio [HR] = 0.63, 95% confidence interval [CI] = 0.47 to 0.83, P = .001), with adjustments for age, sex, study center, first- or higher-order primary melanoma, tumor site, pigmentary phenotypes, and Breslow thickness. Associations were similar in both studies. In pooled analyses stratified by Breslow thickness, the corresponding melanoma-specific death HRs for those patients with the Gc1f haplotype compared with those without Gc1f were 0.89 (95% CI = 0.63 to 1.27) among participants with tumor Breslow thickness equal to or less than 2.0 mm and 0.40 (95% CI = 0.25 to 0.63) among participants with tumor Breslow thickness greater than 2.0 mm (Pinteraction = .003). CONCLUSIONS: Our findings suggest that individuals with the GC haplotype Gc1f may have a lower risk of dying from melanoma-specifically from thicker, higher-risk melanoma-than individuals without this Gc1f haplotype.
- Published
- 2023
4. Cancer in general practice research priorities in Australia
- Author
-
Milley, Kristi, Druce, Paige, McNamara, Mairead, Chan, Raymond J, Cust, Anne E, Davis, Nikki, Fishman, George, Jefford, Michael, Rankin, Nicole, Yates, Patsy, Emery, Jon, and Bergin, Rebecca J
- Published
- 2024
5. ASO Visual Abstract: Impact of an Online Risk Calculator for Sentinel Node Positivity on Management of Patients with T1 and T2 Melanomas
- Author
-
Winder, Alec A., Boyer, Zoe, Ch’ng, Sydney, Stretch, Jonathan R., Saw, Robyn P. M., Shannon, Kerwin F., Pennington, Thomas E., Nieweg, Omgo E., Varey, Alexander H. R., Scolyer, Richard A., Thompson, John F., Cust, Anne E., Lo, Serigne N., Spillane, Andrew J., and Smith, Andrea L.
- Published
- 2024
- Full Text
- View/download PDF
6. Sex-Specific Associations of MDM2 and MDM4 Variants with Risk of Multiple Primary Melanomas and Melanoma Survival in Non-Hispanic Whites
- Author
-
Ward, Sarah V, Autuori, Isidora, Luo, Li, LaPilla, Emily, Yoo, Sarah, Sharma, Ajay, Busam, Klaus J, Olilla, David W, Dwyer, Terence, Anton-Culver, Hoda, Zanetti, Roberto, Sacchetto, Lidia, Cust, Anne E, Gallagher, Richard P, Kanetsky, Peter A, Rosso, Stefano, Begg, Colin B, Berwick, Marianne, Thomas, Nancy E, and Orlow, Irene
- Subjects
Genetics ,Cancer ,Prevention ,MDM2 ,MDM4 ,melanoma ,gene ,polymorphism ,risk ,survival ,sex ,functional ,estrogen-receptor ,GEM Study Group ,Oncology and Carcinogenesis - Abstract
MDM2-SNP309 (rs2279744), a common genetic modifier of cancer incidence in Li-Fraumeni syndrome, modifies risk, age of onset, or prognosis in a variety of cancers. Melanoma incidence and outcomes vary by sex, and although SNP309 exerts an effect on the estrogen receptor, no consensus exists on its effect on melanoma. MDM2 and MDM4 restrain p53-mediated tumor suppression, independently or together. We investigated SNP309, an a priori MDM4-rs4245739, and two coinherited variants, in a population-based cohort of 3663 primary incident melanomas. Per-allele and per-haplotype (MDM2_SNP309-SNP285; MDM4_rs4245739-rs1563828) odds ratios (OR) for multiple-melanoma were estimated with logistic regression models. Hazard ratios (HR) for melanoma death were estimated with Cox proportional hazards models. In analyses adjusted for covariates, females carrying MDM4-rs4245739*C were more likely to develop multiple melanomas (ORper-allele = 1.25, 95% CI 1.03-1.51, and Ptrend = 0.03), while MDM2-rs2279744*G was inversely associated with melanoma-death (HRper-allele = 0.63, 95% CI 0.42-0.95, and Ptrend = 0.03). We identified 16 coinherited expression quantitative loci that control the expression of MDM2, MDM4, and other genes in the skin, brain, and lungs. Our results suggest that MDM4/MDM2 variants are associated with the development of subsequent primaries and with the death of melanoma in a sex-dependent manner. Further investigations of the complex MDM2/MDM4 motif, and its contribution to the tumor microenvironment and observed associations, are warranted.
- Published
- 2023
7. Comparison of community pathologists with expert dermatopathologists evaluating Breslow thickness and histopathologic subtype in a large international population-based study of melanoma
- Author
-
Yardman-Frank, Joseph Michael, Bronner, Baillie, Rosso, Stefano, From, Lynn, Busam, Klaus, Groben, Pam, Tucker, Paul, Cust, Anne, Armstrong, Bruce, Kricker, Anne, Marrett, Loraine, Anton-Culver, Hoda, Gruber, Stephen, Gallagher, Rick, Zanetti, Roberto, Sacchetto, Lidia, Dwyer, Terry, Venn, Alison, Orlow, Irene, Kanetsky, Peter, Luo, Li, Thomas, Nancy, Begg, Colin, Berwick, Marianne, Team, GEM Study, Busam, Klaus J, Autuori, Isidora, Roy, Pampa, Reiner, Anne, Boyce, Tawny W, Cust, Anne E, Armstrong, Bruce K, Dwyer, Terence, Gallagher, Richard P, Marrett, Loraine D, Gruber, Stephen B, Bonner, Joseph D, Thomas, Nancy E, Conway, Kathleen, Ollila, David W, Groben, Pamela A, Edmiston, Sharon N, Hao, Honglin, Parrish, Eloise, Frank, Jill S, Gibbs, David C, Rebbeck, Timothy R, Kanetsky, Peter A, Taylor, Julia Lee, and Madronich, Sasha
- Subjects
Data Management and Data Science ,Information and Computing Sciences ,Biomedical and Clinical Sciences ,GEM Study Team - Published
- 2021
8. Implementation considerations for risk-tailored cancer screening in the population: A scoping review
- Author
-
Dunlop, Kate L.A., Singh, Nehal, Robbins, Hilary A., Zahed, Hana, Johansson, Mattias, Rankin, Nicole M., and Cust, Anne E.
- Published
- 2024
- Full Text
- View/download PDF
9. Study protocol for a randomised controlled trial to evaluate the use of melanoma surveillance photography to the Improve early detection of MelanomA in ultra-hiGh and high-risk patiEnts (the IMAGE trial)
- Author
-
Yan, Mabel K., Cust, Anne E., Soyer, H. Peter, Janda, Monika, Loewe, Katja, Byars, Gabrielle, Fishburn, Paul, White, Paul, Mahumud, Rashidul Alam, Saw, Robyn P. M., Herschtal, Alan, Fernandez-Penas, Pablo, Guitera, Pascale, Morton, Rachael L., Kelly, John, Wolfe, Rory, and Mar, Victoria J.
- Published
- 2023
- Full Text
- View/download PDF
10. Disease-Associated Risk Variants in ANRIL Are Associated with Tumor-Infiltrating Lymphocyte Presence in Primary Melanomas in the Population-Based GEM Study
- Author
-
Davari, Danielle R, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Edmiston, Sharon N, Conway, Kathleen, Parrish, Eloise A, Hao, Honglin, Busam, Klaus J, Sharma, Ajay, Kricker, Anne, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Ollila, David W, Begg, Colin B, Berwick, Marianne, Thomas, Nancy E, and Group, on behalf of the GEM Study
- Subjects
Clinical Research ,Human Genome ,Cardiovascular ,Cancer ,Genetics ,Diabetes ,Heart Disease ,Heart Disease - Coronary Heart Disease ,Aged ,Cyclin-Dependent Kinase Inhibitor p15 ,Female ,GTP Phosphohydrolases ,Genome-Wide Association Study ,Humans ,Lymphocytes ,Tumor-Infiltrating ,Male ,Melanoma ,Membrane Proteins ,Middle Aged ,Mutation ,Proto-Oncogene Proteins B-raf ,Skin Neoplasms ,coronary artery disease ,coronary artery calci fi cation ,myocardial ,GEM Study Group ,Medical and Health Sciences ,Epidemiology - Abstract
BackgroundGenome-wide association studies have reported that genetic variation at ANRIL (CDKN2B-AS1) is associated with risk of several chronic diseases including coronary artery disease, coronary artery calcification, myocardial infarction, and type 2 diabetes mellitus. ANRIL is located at the CDKN2A/B locus, which encodes multiple melanoma tumor suppressors. We investigated the association of these variants with melanoma prognostic characteristics.MethodsThe Genes, Environment, and Melanoma Study enrolled 3,285 European origin participants with incident invasive primary melanoma. For each of ten disease-associated SNPs at or near ANRIL, we used linear and logistic regression modeling to estimate, respectively, the per allele mean changes in log of Breslow thickness and ORs for presence of ulceration and tumor-infiltrating lymphocytes (TIL). We also assessed effect modification by tumor NRAS/BRAF mutational status.ResultsRs518394, rs10965215, and rs564398 passed false discovery and were each associated (P ≤ 0.005) with TILs, although only rs564398 was independently associated (P = 0.0005) with TILs. Stratified by NRAS/BRAF mutational status, rs564398*A was significantly positively associated with TILs among NRAS/BRAF mutant, but not wild-type, cases. We did not find SNP associations with Breslow thickness or ulceration.ConclusionsANRIL rs564398 was associated with TIL presence in primary melanomas, and this association may be limited to NRAS/BRAF-mutant cases.ImpactPathways related to ANRIL variants warrant exploration in relationship to TILs in melanoma, especially given the impact of TILs on immunotherapy and survival.
- Published
- 2021
11. Melanoma screening workshop summary report
- Author
-
Cust, Anne, primary and Janda, Monika, additional
- Published
- 2023
- Full Text
- View/download PDF
12. Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia
- Author
-
Newson, Ainsley J., Morton, Rachael L., Kimlin, Michael, Keogh, Louise, Law, Matthew, Kirk, Judy, Dobbinson, Suzanne J., Kanetsky, Peter, Mann, Graham, Dawkins, Hugh, Savard, Jacqueline, Dunlop, Kate, Trevena, Lyndal, Jenkins, Mark, Allen, Martin, Butow, Phyllis, Wordsworth, Sarah, Lo, Serigne, Low, Cynthia, Smit, Amelia K., Espinoza, David, Cust, Anne E., Law, Chi Kin, Fernandez-Penas, Pablo, Nieweg, Omgo E., and Menzies, Alexander M.
- Published
- 2023
- Full Text
- View/download PDF
13. Differences in Melanoma Between Canada and New South Wales, Australia: A Population-Based Genes, Environment, and Melanoma (GEM) Study
- Author
-
Yardman-Frank, Joseph Michael, Glassheim, Elyssa, Kricker, Anne, Armstrong, Bruce K, Marrett, Loraine D, Luo, Li, Cust, Anne E, Busam, Klaus J, Orlow, Irene, Gallagher, Richard P, Gruber, Stephen B, Anton-Culver, Hoda, Rosso, Stefano, Zanetti, Roberto, Sacchetto, Lidia, Kanetsky, Peter A, Dwyer, Terence, Venn, Alison, Lee-Taylor, Julia, Begg, Colin B, Thomas, Nancy E, and Berwick, Marianne
- Subjects
Climate Change Impacts and Adaptation ,Biomedical and Clinical Sciences ,Environmental Sciences ,Health Sciences ,Cancer - Abstract
In an effort to understand the difference between melanomas diagnosed in Australia (New South Wales) and Canada, where the incidence in New South Wales is almost three times greater than in Canada, and mortality is twice as high although survival is slightly more favorable, we had one pathologist review 1,271 melanomas from British Columbia and Ontario, Canada, to compare these to melanomas in New South Wales, Australia. We hypothesized that histopathologic characteristics might provide insight into divergent pathways to melanoma development. We found a number of differences in risk factors and tumor characteristics between the two geographic areas. There were higher mole counts and darker phenotypes in the Canadian patients, while the Australian patients had greater solar elastosis, more lentigo maligna melanomas, and more tumor infiltrating lymphocytes. We hypothesize that the differences observed may illustrate different etiologies – the cumulative exposure pathway among Australian patients and the nevus pathway among Canadian patients. This is one of the largest studies investigating the divergent pathway hypothesis and is particularly robust due to the evaluation of all lesions by one dermatopathologist.
- Published
- 2021
14. Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study
- Author
-
Davari, Danielle R, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Busam, Klaus J, Sharma, Ajay, Kricker, Anne, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Gibbs, David C, Ollila, David W, Begg, Colin B, Berwick, Marianne, and Thomas, Nancy E
- Subjects
Genetics ,Clinical Research ,Human Genome ,Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Genome-Wide Association Study ,Humans ,Lymphocytes ,Tumor-Infiltrating ,Melanoma ,Prognosis ,Skin Neoplasms ,melanoma ,single nucleotide polymorphism ,Breslow thickness ,ulceration ,mitoses ,tumor-infiltrating lymphocytes ,survival ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Genome-wide association studies (GWAS) and candidate pathway studies have identified low-penetrant genetic variants associated with cutaneous melanoma. We investigated the association of melanoma-risk variants with primary melanoma tumor prognostic characteristics and melanoma-specific survival. The Genes, Environment, and Melanoma Study enrolled 3285 European origin participants with incident invasive primary melanoma. For each of 47 melanoma-risk single nucleotide polymorphisms (SNPs), we used linear and logistic regression modeling to estimate, respectively, the per allele mean changes in log of Breslow thickness and odds ratios for presence of ulceration, mitoses, and tumor-infiltrating lymphocytes (TILs). We also used Cox proportional hazards regression modeling to estimate the per allele hazard ratios for melanoma-specific survival. Passing the false discovery threshold (p = 0.0026) were associations of IRF4 rs12203592 and CCND1 rs1485993 with log of Breslow thickness, and association of TERT rs2242652 with presence of mitoses. IRF4 rs12203592 also had nominal associations (p < 0.05) with presence of mitoses and melanoma-specific survival, as well as a borderline association (p = 0.07) with ulceration. CCND1 rs1485993 also had a borderline association with presence of mitoses (p = 0.06). MX2 rs45430 had nominal associations with log of Breslow thickness, presence of mitoses, and melanoma-specific survival. Our study indicates that further research investigating the associations of these genetic variants with underlying biologic pathways related to tumor progression is warranted.
- Published
- 2021
15. Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck
- Author
-
Wood, Renee P, Heyworth, Jane S, McCarthy, Nina S, Mauguen, Audrey, Berwick, Marianne, Thomas, Nancy E, Millward, Michael J, Anton-Culver, Hoda, Cust, Anne E, Dwyer, Terence, Gallagher, Richard P, Gruber, Stephen B, Kanetsky, Peter A, Orlow, Irene, Rosso, Stefano, Moses, Eric K, Begg, Colin B, and Ward, Sarah V
- Subjects
Biomedical and Clinical Sciences ,Health Sciences ,Oncology and Carcinogenesis ,Dental/Oral and Craniofacial Disease ,Clinical Trials and Supportive Activities ,Cancer ,Clinical Research ,Aged ,Female ,Humans ,Male ,Melanoma ,Middle Aged ,Neck ,Risk Factors ,Scalp ,Skin Neoplasms ,Medical and Health Sciences ,Epidemiology ,Biomedical and clinical sciences ,Health sciences - Abstract
BackgroundScalp and neck (SN) melanoma confers a worse prognosis than melanoma of other sites but little is known about its determinants. We aimed to identify associations between SN melanoma and known risk genes, phenotypic traits, and sun exposure patterns.MethodsParticipants were cases from the Western Australian Melanoma Health Study (n = 1,200) and the Genes, Environment, and Melanoma Study (n = 3,280). Associations between risk factors and SN melanoma, compared with truncal and arm/leg melanoma, were investigated using binomial logistic regression. Facial melanoma was also compared with the trunk and extremities, to evaluate whether associations were subregion specific, or reflective of the whole head/neck region.ResultsCompared with other sites, increased odds of SN and facial melanoma were observed in older individuals [SN: OR = 1.28, 95% confidence interval (CI) = 0.92-1.80, P trend = 0.016; Face: OR = 4.57, 95% CI = 3.34-6.35, P trend < 0.001] and those carrying IRF4-rs12203592*T (SN: OR = 1.35, 95% CI = 1.12-1.63, P trend = 0.002; Face: OR = 1.29, 95% CI = 1.10-1.50, P trend = 0.001). Decreased odds were observed for females (SN: OR = 0.49, 95% CI = 0.37-0.64, P < 0.001; Face: OR = 0.66, 95% CI = 0.53-0.82, P < 0.001) and the presence of nevi (SN: OR = 0.66, 95% CI = 0.49-0.89, P = 0.006; Face: OR = 0.65, 95% CI = 0.52-0.83, P < 0.001).ConclusionsDifferences observed between SN melanoma and other sites were also observed for facial melanoma. Factors previously associated with the broader head and neck region, notably older age, may be driven by the facial subregion. A novel finding was the association of IRF4-rs12203592 with both SN and facial melanoma.ImpactUnderstanding the epidemiology of site-specific melanoma will enable tailored strategies for risk factor reduction and site-specific screening campaigns.
- Published
- 2020
16. Patient demographic characteristics and risk factors associated with sun protection behaviours in specialist melanoma clinics
- Author
-
Smith, Juliet, primary, Espinoza, David, additional, Smit, Amelia K., additional, Gallo, Bruna, additional, Smith, Andrea L., additional, Lo, Serigne N., additional, Guitera, Pascale, additional, Martin, Linda K., additional, and Cust, Anne E., additional
- Published
- 2024
- Full Text
- View/download PDF
17. Association of optimism and social support with health‐related quality of life among Australian women cancer survivors – A cohort study
- Author
-
Rahman, Md Mijanur, primary, David, Michael, additional, Steinberg, Julia, additional, Cust, Anne, additional, Yu, Xue Qin, additional, Rutherford, Claudia, additional, Banks, Emily, additional, Byles, Julie, additional, and Canfell, Karen, additional
- Published
- 2024
- Full Text
- View/download PDF
18. Full‐body skin examination in screening for cutaneous malignancy: A focus on concealed sites and the practices of international dermatologists
- Author
-
Pham, James P., primary, Allen, Nicholas, additional, Star, Phoebe, additional, Cust, Anne, additional, Guitera, Pascale, additional, Marghoob, Ashfaq A., additional, Paoli, John, additional, Zaludek, Iris, additional, and Smith, Annika, additional
- Published
- 2024
- Full Text
- View/download PDF
19. MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort
- Author
-
Pellegrini, Cristina, Botta, Francesca, Massi, Daniela, Martorelli, Claudia, Facchetti, Fabio, Gandini, Sara, Maisonneuve, Patrick, Avril, Marie-Françoise, Demenais, Florence, Paillerets, Brigitte Bressac-de, Hoiom, Veronica, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Marrett, Loraine, Zanetti, Roberto, Dwyer, Terence, Thomas, Nancy E, Begg, Colin B, Berwick, Marianne, Puig, Susana, Potrony, Miriam, Nagore, Eduardo, Ghiorzo, Paola, Menin, Chiara, Manganoni, Ausilia Maria, Rodolfo, Monica, Brugnara, Sonia, Passoni, Emanuela, Sekulovic, Lidija Kandolf, Baldini, Federica, Guida, Gabriella, Stratigos, Alexandros, Ozdemir, Fezal, Ayala, Fabrizio, Fernandez-de-Misa, Ricardo, Quaglino, Pietro, Ribas, Gloria, Romanini, Antonella, Migliano, Emilia, Stanganelli, Ignazio, Kanetsky, Peter A, Pizzichetta, Maria Antonietta, García-Borrón, Jose Carlos, Nan, Hongmei, Landi, Maria Teresa, Little, Julian, Newton-Bishop, Julia, Sera, Francesco, Fargnoli, Maria Concetta, Raimondi, Sara, Group, IMI Study, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Mazzoni, Laura, Group, GEM Study, Orlow, Irene, Mujumdar, Urvi, Hummer, Amanda, Busam, Klaus, Roy, Pampa, Canchola, Rebecca, Clas, Brian, Cotignola, Javiar, Monroe, Yvette, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Stephens, Nicola, Switzer, Teresa, Theis, Beth, From, Lynn, Chowdhury, Noori, Vanasse, Louise, Purdue, Mark, Northrup, David, Rosso, Stefano, Sacerdote, Carlotta, Leighton, Nancy, Gildea, Maureen, Bonner, Joe, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Millikan, Robert, Mattingly, Dianne, and Player, Jon
- Subjects
Clinical Research ,Pediatric ,Genetics ,Prevention ,Cancer ,Adolescent ,Adult ,Aged ,Biomarkers ,Tumor ,Case-Control Studies ,Child ,Female ,Genetic Predisposition to Disease ,Germ-Line Mutation ,Humans ,Logistic Models ,Male ,Melanoma ,Middle Aged ,Odds Ratio ,Polymorphism ,Genetic ,Receptor ,Melanocortin ,Type 1 ,Retrospective Studies ,Skin Neoplasms ,IMI Study Group ,GEM Study Group ,M-SKIP Study Group - Abstract
BackgroundGermline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls.MethodsIn this retrospective pooled analysis, we used the M-SKIP Project, the Italian Melanoma Intergroup, and other European groups (with participants from Australia, Canada, France, Greece, Italy, the Netherlands, Serbia, Spain, Sweden, Turkey, and the USA) to assemble an international multicentre cohort. We gathered phenotypic and genetic data from children or adolescents diagnosed with sporadic single-primary cutaneous melanoma at age 20 years or younger, adult patients with sporadic single-primary cutaneous melanoma diagnosed at age 35 years or older, and healthy adult individuals as controls. We calculated odds ratios (ORs) for childhood and adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged 18 or younger and 14 years or younger.FindingsWe analysed data from 233 young patients, 932 adult patients, and 932 healthy adult controls. Children and adolescents had higher odds of carrying MC1R r variants than did adult patients (OR 1·54, 95% CI 1·02-2·33), including when analysis was restricted to patients aged 18 years or younger (1·80, 1·06-3·07). All investigated variants, except Arg160Trp, tended, to varying degrees, to have higher frequencies in young patients than in adult patients, with significantly higher frequencies found for Val60Leu (OR 1·60, 95% CI 1·05-2·44; p=0·04) and Asp294His (2·15, 1·05-4·40; p=0·04). Compared with those of healthy controls, young patients with melanoma had significantly higher frequencies of any MC1R variants.InterpretationOur pooled analysis of MC1R genetic data of young patients with melanoma showed that MC1R r variants were more prevalent in childhood and adolescent melanoma than in adult melanoma, especially in patients aged 18 years or younger. Our findings support the role of MC1R in childhood and adolescent melanoma susceptibility, with a potential clinical relevance for developing early melanoma detection and preventive strategies.FundingSPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.
- Published
- 2019
20. Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes
- Author
-
Thomas, Nancy E, Edmiston, Sharon N, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Gibbs, David C, Parrish, Eloise A, Hao, Honglin, Busam, Klaus J, Armstrong, Bruce K, Kricker, Anne, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Ollila, David W, Begg, Colin B, Berwick, Marianne, Conway, Kathleen, Begg, Colin, Roy, Pampa, Reiner, Anne, Leong, Siok, Guerrero, Sergio Corrales, Sadeghi, Keimya, Boyce, Tawny W, Venn, Alison, Tucker, Paul, Marrett, Loraine D, From, Lynn, Huang, Shu-Chen, Groben, Pamela A, Parrish, Eloise, Frank, Jill S, Rebbeck, Timothy R, Taylor, Julia Lee, and Madronich, Sasha
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Human Genome ,Cancer ,Genetic Testing ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Adult ,Aged ,Female ,GTP Phosphohydrolases ,Genetic Association Studies ,Genotype ,Group VI Phospholipases A2 ,Humans ,Interferon Regulatory Factors ,Male ,Melanoma ,Membrane Proteins ,Middle Aged ,Mutation ,Polymorphism ,Single Nucleotide ,Proto-Oncogene Proteins B-raf ,Risk ,Skin Neoplasms ,GEM Study Group ,Clinical Sciences ,Dermatology & Venereal Diseases ,Clinical sciences - Abstract
BRAF and NRAS mutations arise early in melanoma development, but their associations with low-penetrance melanoma susceptibility loci remain unknown. In the Genes, Environment and Melanoma Study, 1,223 European-origin participants had their incident invasive primary melanomas screened for BRAF/NRAS mutations and germline DNA genotyped for 47 single-nucleotide polymorphisms identified as low-penetrant melanoma-risk variants. We used multinomial logistic regression to simultaneously examine each single-nucleotide polymorphism's relationship to BRAF V600E, BRAF V600K, BRAF other, and NRAS+ relative to BRAF-/NRAS- melanoma adjusted for study features. IRF4 rs12203592*T was associated with BRAF V600E (odds ratio [OR] = 0.59, 95% confidence interval [CI] = 0.43-0.79) and V600K (OR = 0.65, 95% CI = 0.41-1.03), but not BRAF other or NRAS+ melanoma. A global test of etiologic heterogeneity (Pglobal = 0.001) passed false discovery (Pglobal = 0.0026). PLA2G6 rs132985*T was associated with BRAF V600E (OR = 1.32, 95% CI = 1.05-1.67) and BRAF other (OR = 1.82, 95% CI = 1.11-2.98), but not BRAF V600K or NRAS+ melanoma. The test for etiologic heterogeneity (Pglobal) was 0.005. The IRF4 rs12203592 associations were slightly attenuated after adjustment for melanoma-risk phenotypes. The PLA2G6 rs132985 associations were independent of phenotypes. IRF4 and PLA2G6 inherited genotypes may influence melanoma BRAF/NRAS subtype development.
- Published
- 2018
21. Factors influencing acceptance, adoption and adherence to sentinel node biopsy recommendations in the Australian Melanoma Management Guidelines: a qualitative study using an implementation science framework
- Author
-
Smith, Andrea L., Watts, Caroline G., Henderson, Michael, Long, Georgina V., Rapport, Frances, Saw, Robyn P. M., Scolyer, Richard A., Spillane, Andrew J., Thompson, John F., and Cust, Anne E.
- Published
- 2022
- Full Text
- View/download PDF
22. Mobile teledermoscopy for patients at high risk of cutaneous melanoma: A single‐arm, feasibility study of a clinical intervention at two tertiary centres (MOBILEMEL)
- Author
-
Martin, Arthur, Cust, Anne E., Lo, Serigne, Morton, Rachael L., Kasparian, Nadine, Collgros, Helena, Teh, Natalie, Martin, Linda, and Guitera, Pascale
- Subjects
- *
COVID-19 pandemic , *BOWEN'S disease , *ACTINIC keratosis , *BASAL cell carcinoma , *CHILDREN'S hospitals , *SKIN cancer , *DYSPLASTIC nevus syndrome - Abstract
This article discusses a feasibility study on the use of mobile teledermoscopy for monitoring high-risk melanoma patients. The study involved 75 patients from two Australian tertiary centers who used a portable teledermoscope compatible with their mobile phones. The study found that mobile teledermoscopy was effective in detecting skin cancers, with the potential to fast-track 37% of visits for concerning lesions. Participants aged ≤40 years and those with tertiary education provided more reliable transmissions. The study also noted a small additional cost to the healthcare system. The authors of a letter to the editor discuss the study and suggest that mobile teledermoscopy can be used to support conventional practice for high-risk patients under certain criteria. The study was supported by the NHMRC Centre of Research Excellence in Melanoma and the Melanoma Institute of Australia. [Extracted from the article]
- Published
- 2024
- Full Text
- View/download PDF
23. Targeted Screening for Cancer: Learnings and Applicability to Melanoma: A Scoping Review.
- Author
-
Zheng, Lejie, Smit, Amelia K., Cust, Anne E., and Janda, Monika
- Subjects
MEDICAL screening ,EARLY detection of cancer ,CANCER prevention ,OVARIAN cancer ,BREAST cancer - Abstract
This scoping review aims to systematically gather evidence from personalized cancer-screening studies across various cancers, summarize key components and outcomes, and provide implications for a future personalized melanoma-screening strategy. Peer-reviewed articles and clinical trial databases were searched for, with restrictions on language and publication date. Sixteen distinct studies were identified and included in this review. The studies' results were synthesized according to key components, including risk assessment, risk thresholds, screening pathways, and primary outcomes of interest. Studies most frequently reported about breast cancers (n = 7), followed by colorectal (n = 5), prostate (n = 2), lung (n = 1), and ovarian cancers (n = 1). The identified screening programs were evaluated predominately in Europe (n = 6) and North America (n = 4). The studies employed multiple different risk assessment tools, screening schedules, and outcome measurements, with few consistent approaches identified across the studies. The benefit–harm assessment of each proposed personalized screening program indicated that the majority were feasible and effective. The establishment of a personalized screening program is complex, but results of the reviewed studies indicate that it is feasible, can improve participation rates, and screening outcomes. While the review primarily examines screening programs for cancers other than melanoma, the insights can be used to inform the development of a personalized melanoma screening strategy. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
24. Changes in sun protection behaviours, sun exposure and shade availability among adults, children and adolescents in New South Wales, 2003–2016
- Author
-
Liew, Andre Ying?Song and Cust, Anne E.
- Subjects
Sun exposure -- Health aspects -- Surveys -- Demographic aspects ,Health behavior -- Surveys -- Demographic aspects ,Health - Abstract
: Objective: To inform skin cancer prevention policies and campaigns, we investigated changes over time in sun protection behaviours, sunburn, sun exposure and shade availability in public spaces among people living in New South Wales (NSW), Australia, between 2003 and 2016. Methods: We analysed cross‐sectional data from the NSW Population Health Survey collected in 2003, 2007, 2014 and 2016, which included approximately 15,000 respondents of all ages in each year. Logistic regression models were used to analyse overall changes over time and for different age, sex and sociodemographic groups. Results: The use of sunscreen and protective clothing and the availability of shade increased between 2003 and 2016, but sunburn and sun exposure during peak times of ultraviolet radiation also increased. In subgroup analyses, there was no improvement in sun protection behaviours among adolescents and increases in sunburn and sun exposure were observed only among adults, particularly women and in areas with less social disadvantage. Conclusions: Sun protection behaviours have improved over time among some population subgroups, but over‐exposure to ultraviolet radiation remains prevalent. Implications for public health: Skin cancer prevention initiatives that specifically target adolescents and sun exposure during peak times are needed to help reduce population skin cancer risk., Australia has the highest incidence of melanoma and keratinocyte carcinomas (non‐melanoma skin cancers) in the world.[sup.1,2] The major cause of melanoma and other skin cancers is excessive exposure to ultraviolet [...]
- Published
- 2021
- Full Text
- View/download PDF
25. Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial
- Author
-
Smit, Amelia K., Allen, Martin, Beswick, Brooke, Butow, Phyllis, Dawkins, Hugh, Dobbinson, Suzanne J., Dunlop, Kate L., Espinoza, David, Fenton, Georgina, Kanetsky, Peter A., Keogh, Louise, Kimlin, Michael G., Kirk, Judy, Law, Matthew H., Lo, Serigne, Low, Cynthia, Mann, Graham J., Reyes-Marcelino, Gillian, Morton, Rachael L., Newson, Ainsley J., Savard, Jacqueline, Trevena, Lyndal, Wordsworth, Sarah, and Cust, Anne E.
- Published
- 2021
- Full Text
- View/download PDF
26. The interaction between vitamin D receptor polymorphisms and sun exposure around time of diagnosis influences melanoma survival
- Author
-
Orlow, Irene, Shi, Yang, Kanetsky, Peter A, Thomas, Nancy E, Luo, Li, Corrales‐Guerrero, Sergio, Cust, Anne E, Sacchetto, Lidia, Zanetti, Roberto, Rosso, Stefano, Armstrong, Bruce K, Dwyer, Terence, Venn, Alison, Gallagher, Richard P, Gruber, Stephen B, Marrett, Loraine D, Anton‐Culver, Hoda, Busam, Klaus, Begg, Colin B, Berwick, Marianne, and Group, the GEM Study
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer ,Climate-Related Exposures and Conditions ,Prevention ,Nutrition ,Genetics ,Female ,Genetic Predisposition to Disease ,Haplotypes ,Humans ,Male ,Melanoma ,Polymorphism ,Single Nucleotide ,Receptors ,Calcitriol ,Risk Factors ,Sunlight ,Survival Analysis ,exposure ,haplotype ,interaction ,melanoma ,polymorphism ,SNP ,survival ,UVB ,vitamin D receptor ,GEM Study Group ,Biological Sciences ,Medical and Health Sciences ,Dermatology & Venereal Diseases ,Biochemistry and cell biology ,Oncology and carcinogenesis - Abstract
Evidence on the relationship between the vitamin D pathway and outcomes in melanoma is growing, although it is not always clear. We investigated the impact of measured levels of sun exposure at diagnosis on associations of vitamin D receptor gene (VDR) polymorphisms and melanoma death in 3336 incident primary melanoma cases. Interactions between six SNPs and a common 3'-end haplotype were significant (p
- Published
- 2018
27. Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma
- Author
-
Thomas, Nancy E, Edmiston, Sharon N, Kanetsky, Peter A, Busam, Klaus J, Kricker, Anne, Armstrong, Bruce K, Cust, Anne E, Anton-Culver, Hoda, Gruber, Stephen B, Luo, Li, Orlow, Irene, Reiner, Anne S, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Parrish, Eloise A, Hao, Honglin, Gibbs, David C, Frank, Jill S, Ollila, David W, Begg, Colin B, Berwick, Marianne, Conway, Kathleen, Roy, Pampa, Patel, Himali, Paine, Susan, Venn, Alison, Tucker, Paul, Marrett, Loraine D, From, Lynn, Huang, Shu-Chen, Groben, Pamela A, Parrish, Eloise, Bramson, Jennifer I, Rebbeck, Timothy R, Taylor, Julia Lee, and Madronich, Sasha
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer ,Genetics ,Adult ,Aged ,Australia ,Female ,GTP Phosphohydrolases ,Genotype ,Humans ,Male ,Melanoma ,Membrane Proteins ,Middle Aged ,Mutation ,Phenotype ,Proto-Oncogene Proteins B-raf ,Receptor ,Melanocortin ,Type 1 ,Skin Neoplasms ,United States ,GEM Study Group ,Clinical Sciences ,Dermatology & Venereal Diseases ,Clinical sciences - Abstract
Associations of MC1R with BRAF mutations in melanoma have been inconsistent between studies. We sought to determine for 1,227 participants in the international population-based Genes, Environment, and Melanoma (GEM) study whether MC1R and phenotypes were associated with melanoma BRAF/NRAS subtypes. We used logistic regression adjusted by age, sex, and study design features and examined effect modifications. BRAF+ were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS+ with older age relative to the wild type (BRAF-/NRAS-) melanomas (all P < 0.05). Comparing specific BRAF subtypes to the wild type, BRAF V600E was associated with younger age, blond/light brown hair, and increased nevi and V600K with increased nevi and less freckling (all P < 0.05). MC1R was positively associated with BRAF V600E cases but only among individuals with darker phototypes or darker hair (Pinteraction < 0.05) but inversely associated with BRAF V600K (Ptrend = 0.006) with no significant effect modification by phenotypes. These results support distinct etiologies for BRAF V600E, BRAF V600K, NRAS+, and wild-type melanomas. MC1R's associations with BRAF V600E cases limited to individuals with darker phenotypes indicate that MC1R genotypes specifically provide information about BRAF V600E melanoma risk in those not considered high risk based on phenotype. Our results also suggest that melanin pathways deserve further study in BRAF V600E melanomagenesis.
- Published
- 2017
28. Association of Incident Amelanotic Melanoma With Phenotypic Characteristics, MC1R Status, and Prior Amelanotic Melanoma
- Author
-
Vernali, Steven, Waxweiler, Weston T, Dillon, Patrick M, Kanetsky, Peter A, Orlow, Irene, Luo, Li, Busam, Klaus J, Kricker, Anne, Armstrong, Bruce K, Anton-Culver, Hoda, Gruber, Stephen B, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Sacchetto, Lidia, Dwyer, Terence, Cust, Anne E, Ollila, David W, Begg, Colin B, Berwick, Marianne, and Thomas, Nancy E
- Subjects
Genetics ,Clinical Research ,Climate-Related Exposures and Conditions ,Cancer ,Adult ,Aged ,Cohort Studies ,Female ,Humans ,Logistic Models ,Male ,Melanoma ,Amelanotic ,Middle Aged ,Phenotype ,Pigmentation ,Receptor ,Melanocortin ,Type 1 ,Skin Neoplasms ,GEM Study Group ,Clinical Sciences ,Oncology and Carcinogenesis - Abstract
ImportanceWe previously reported that survival is poorer from histopathologically amelanotic than pigmented melanoma because of more advanced stage at diagnosis. Identifying patients at risk of amelanotic melanoma might enable earlier diagnosis and improved survival; however, the phenotypic characteristics and underlying genetics associated with amelanotic melanoma are unknown.ObjectiveTo determine whether phenotypic characteristics, carriage of MC1R variants, and history of amelanotic melanoma are associated with histopathologically amelanotic melanoma.Design, setting, and participantsThe Genes, Environment, and Melanoma (GEM) study is an international cohort study that enrolled patients with incident primary cutaneous melanomas from population-based and hospital-based cancer registries (1998 to 2003). The GEM participants included here were 2387 patients with data for phenotypes, MC1R genotype, and primary melanomas scored for histopathologic pigmentation. Of these 2387 patients with incident melanomas scored for pigmentation, 527 had prior primary melanomas also scored for pigmentation.Main outcomes and measuresAssociations of phenotypic characteristics (freckles, nevi, phenotypic index) and MC1R status with incident amelanotic melanomas were evaluated using logistic regression models adjusted for age, sex, study center, and primary status (single or multiple primary melanoma); odds ratios (ORs) and 95% CIs are reported. Association of histopathologic pigmentation between incident and prior melanomas was analyzed using an exact logistic regression model.ResultsThis study included 2387 patients (1065 women, 1322 men; mean [SD] age at diagnosis, 58.3 [16.1] years) and 2917 primary melanomas. In a multivariable model including phenotypic characteristics, absence of back nevi, presence of many freckles, and a sun-sensitive phenotypic index were independently associated with amelanotic melanoma. Carriage of MC1R variants was associated with amelanotic melanoma but lost statistical significance in a model with phenotype. Further, patients with incident primary amelanotic melanomas were more likely to have had a prior primary amelanotic melanoma (OR, 4.62; 95% CI, 1.25-14.13) than those with incident primary pigmented melanomas.Conclusions and relevanceAbsence of back nevi, presence of many freckles, a sun-sensitive phenotypic index, and prior amelanotic melanoma increase odds for development of amelanotic melanoma. An increased index of suspicion for melanoma in presenting nonpigmented lesions and more careful examination for signs of amelanotic melanoma during periodic skin examination in patients at increased odds of amelanotic melanoma might lead to earlier diagnosis and improved survival.
- Published
- 2017
29. Skin checks for potential skin cancers in general practice in Victoria, Australia: the upfront and downstream patterns and costs
- Author
-
Goldsbury, David, primary, McCarthy, Damien, additional, Watts, Caroline, additional, So, Chi, additional, Wawryk, Olivia, additional, Kearney, Chris, additional, Reyes-Marcelino, Gillian, additional, McLoughlin, Kirstie, additional, Emery, Jon, additional, and Cust, Anne, additional
- Published
- 2024
- Full Text
- View/download PDF
30. Prognosis for people with multiple primary melanomas compared with a single primary melanoma
- Author
-
Ni, Yuan, primary, Watts, Caroline G., additional, Scolyer, Richard A., additional, Madronio, Christine, additional, Armstrong, Bruce K., additional, Morton, Rachael L., additional, Menzies, Scott W., additional, Mann, Graham J., additional, Thompson, John F., additional, Cust, Anne E., additional, and Lo, Serigne N., additional
- Published
- 2024
- Full Text
- View/download PDF
31. A review of skin cancer primary prevention activities in primary care settings
- Author
-
Singh, Nehal, primary, Dunlop, Kate, additional, Woolley, Nikki, additional, Wills Vashishtha, Tracey, additional, Damian, Diona, additional, Vuong, Kylie, additional, Cust, Anne, additional, and Smit, Amelia, additional
- Published
- 2024
- Full Text
- View/download PDF
32. Molecular Epidemiology of Melanoma
- Author
-
Cust, Anne E., Tsao, Hensin, Berwick, Marianne, Mann, Graham J., Iles, Mark M., Balch, Charles M., editor, Atkins, Michael B., editor, Garbe, Claus, editor, Gershenwald, Jeffrey E., editor, Halpern, Allan C., editor, Kirkwood, John M., editor, McArthur, Grant A., editor, Thompson, John F., editor, and Sober, Arthur J., editor
- Published
- 2020
- Full Text
- View/download PDF
33. FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma
- Author
-
Holland, Elizabeth A., Lo, Serigne, Kelly, Blake, Schmid, Helen, Cust, Anne E., Palmer, Jane M., Drummond, Martin, Hayward, Nicholas K., Pritchard, Antonia L., and Mann, Graham J.
- Published
- 2021
- Full Text
- View/download PDF
34. School-based interventions to improve sun-safe knowledge, attitudes and behaviors in childhood and adolescence: A systematic review
- Author
-
Reyes-Marcelino, Gillian, Wang, Rhona, Gultekin, Sinem, Humphreys, Lauren, Smit, Amelia K., Sharman, Ashleigh R., St Laurent, Andrea G., Evaquarta, Rosa, Dobbinson, Suzanne J., and Cust, Anne E.
- Published
- 2021
- Full Text
- View/download PDF
35. Prevalence of skin examination behaviours among Australians over time
- Author
-
Reyes-Marcelino, Gillian, Tabbakh, Tamara, Espinoza, David, Sinclair, Craig, Kang, Yoon-Jung, McLoughlin, Kirstie, Caruana, Michael, Fernández-Peñas, Pablo, Guitera, Pascale, Aitken, Joanne F., Canfell, Karen, Dobbinson, Suzanne, and Cust, Anne E.
- Published
- 2021
- Full Text
- View/download PDF
36. Variants in autophagy‐related genes and clinical characteristics in melanoma: a population‐based study
- Author
-
White, Kirsten AM, Luo, Li, Thompson, Todd A, Torres, Salina, Hu, Chien‐An Andy, Thomas, Nancy E, Lilyquist, Jenna, Anton‐Culver, Hoda, Gruber, Stephen B, From, Lynn, Busam, Klaus J, Orlow, Irene, Kanetsky, Peter A, Marrett, Loraine D, Gallagher, Richard P, Sacchetto, Lidia, Rosso, Stefano, Dwyer, Terence, Cust, Anne E, Begg, Colin B, Berwick, Marianne, Mujumdar, Urvi, Roy, Pampa, Armstrong, Bruce, Kricker, Anne, Litchfield, Melisa, Tucker, Paul, Venn, Alison, Stephens, Nicola, Switzer, Teresa, Marrett, Loraine, Theis, Elizabeth, Chowdhury, Noori, Vanasse, Louise, Zanetti, Roberto, Sacerdote, Carlotta, Leighton, Nancy, Jeter, Joanne, Klotz, Judith, Wilcox, Homer, Weiss, Helen, Mattingly, Dianne, Player, Jon, Rebbeck, Timothy, Walker, Amy, Panossian, Saarene, Taylor, Julia Lee, and Madronich, Sasha
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Cancer ,Genetics ,Clinical Research ,Aetiology ,4.1 Discovery and preclinical testing of markers and technologies ,Detection ,screening and diagnosis ,2.1 Biological and endogenous factors ,Adult ,Aged ,Alleles ,Autophagy ,Autophagy-Related Proteins ,Female ,Genetic Predisposition to Disease ,Genetic Variation ,Genotype ,Humans ,Male ,Melanoma ,Middle Aged ,Models ,Biological ,Neoplasm Staging ,Odds Ratio ,Polymorphism ,Single Nucleotide ,Population Surveillance ,ATG16L1 ,autophagy ,melanoma ,polymorphism ,SNP ,GEM Study Group ,ATG16L1 ,SNP ,Biochemistry and Cell Biology ,Oncology and carcinogenesis - Abstract
Autophagy has been linked with melanoma risk and survival, but no polymorphisms in autophagy-related (ATG) genes have been investigated in relation to melanoma progression. We examined five single-nucleotide polymorphisms (SNPs) in three ATG genes (ATG5; ATG10; and ATG16L) with known or suspected impact on autophagic flux in an international population-based case-control study of melanoma. DNA from 911 melanoma patients was genotyped. An association was identified between (GG) (rs2241880) and earlier stage at diagnosis (OR 0.47; 95% Confidence Intervals (CI) = 0.27-0.81, P = 0.02) and a decrease in Breslow thickness (P = 0.03). The ATG16L heterozygous genotype (AG) (rs2241880) was associated with younger age at diagnosis (P = 0.02). Two SNPs in ATG5 were found to be associated with increased stage (rs2245214 CG, OR 1.47; 95% CI = 1.11-1.94, P = 0.03; rs510432 CC, OR 1.84; 95% CI = 1.12-3.02, P = 0.05). Finally, we identified inverse associations between ATG5 (GG rs2245214) and melanomas on the scalp or neck (OR 0.20, 95% CI = 0.05-0.86, P = 0.03); ATG10 (CC) (rs1864182) and brisk tumor infiltrating lymphocytes (TILs) (OR 0.42; 95% CI = 0.21-0.88, P = 0.02), and ATG5 (CC) (rs510432) with nonbrisk TILs (OR 0.55; 95% CI = 0.34-0.87, P = 0.01). Our data suggest that ATG SNPs might be differentially associated with specific host and tumor characteristics including age at diagnosis, TILs, and stage. These associations may be critical to understanding the role of autophagy in cancer, and further investigation will help characterize the contribution of these variants to melanoma progression.
- Published
- 2016
37. Primary prevention of skin cancer in primary care settings
- Author
-
Smit, Amelia, primary, Dunlop, Kate, additional, Singh, Nehal, additional, Damian, Diona, additional, Vuong, Kylie, additional, and Cust, Anne, additional
- Published
- 2022
- Full Text
- View/download PDF
38. Full‐body skin examination in screening for cutaneous malignancy: a focus on concealed sites and the practices of Australian dermatologists.
- Author
-
Pham, James P., Allen, Nicholas, Star, Phoebe, Cust, Anne E., Stewart, Cameron, Guitera, Pascale, Marghoob, Ashfaq A., and Smith, Annika
- Subjects
SKIN examination ,DERMATOLOGISTS ,DISEASE risk factors ,ORAL mucosa - Abstract
Background: Full‐body skin examination (FSE) is a vital practice in the diagnosis of cutaneous malignancy. Precisely how FSE should be conducted with respect to concealed site inclusion remains poorly elucidated. Objective: To establish the approach of Australian dermatologists to concealed site examination (CSE). Methods: A cross‐sectional study was performed consisting of an online self‐administered 11‐question survey delivered to fellows of the Australasian College of Dermatologists. Results: There were 237 respondents. Anogenitalia was the least often examined concealed site (4.6%), and 59.9, 32.9, and 14.3% reported always examining the scalp, breasts, and oral mucosa, respectively. Patient concern was the most frequently cited factor prompting examination, while many cited low incidence of pathology and limited chaperone availability as the main barriers to routine examination of these sites. Conclusion: Most Australian dermatologists do not routinely examine breasts, oral mucosal, or anogenital sites as part of an FSE. Emphasis should be made on identifying individual patient risk factors and education regarding self‐examination of sensitive sites. A consensus approach to the conduct of the FSE, including concealed sites, is needed to better delineate clinician responsibilities and address medicolegal implications. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
39. Australian general practitioners' attitudes and knowledge of sentinel lymph node biopsy in melanoma management
- Author
-
Watts, Caroline G, Smith, Andrea L, Robinson, Sam, Chang, Chiao-Han, Goumas, Chris, Schmid, Helen, Kelly, John W, Hong, Angela M, Scolyer, Richard A, Long, Georgina V, Spillane, Andrew J, Henderson, Michael, Gyorki, David E, Mar, Victoria J, Morton, Rachael L, Saw, Robyn PM, Varey, Alex H, Mann, Graham J, Thompson, John F, and Cust, Anne E
- Published
- 2020
40. Early detection of melanoma: a consensus report from the Australian Skin and Skin Cancer Research Centre Melanoma Screening Summit
- Author
-
Janda, Monika, Cust, Anne E., Neale, Rachel E., Aitken, Joanne F., Baade, Peter D., Green, Adele C., Khosrotehrani, Kiarash, Mar, Victoria, Soyer, H. Peter, and Whiteman, David C.
- Published
- 2020
- Full Text
- View/download PDF
41. Nevus count associations with pigmentary phenotype, histopathological melanoma characteristics and survival from melanoma
- Author
-
Taylor, Nicholas J, Thomas, Nancy E, Anton‐Culver, Hoda, Armstrong, Bruce K, Begg, Colin B, Busam, Klaus J, Cust, Anne E, Dwyer, Terence, From, Lynn, Gallagher, Richard P, Gruber, Stephen B, Nishri, Diane E, Orlow, Irene, Rosso, Stefano, Venn, Alison J, Zanetti, Roberto, Berwick, Marianne, Kanetsky, Peter A, and Group, on behalf of the GEM Study
- Subjects
Cancer ,Clinical Research ,Climate-Related Exposures and Conditions ,Adult ,Aged ,Case-Control Studies ,Female ,Humans ,Kaplan-Meier Estimate ,Male ,Melanoma ,Middle Aged ,Nevus ,Pigmented ,Odds Ratio ,Phenotype ,Population Surveillance ,Prognosis ,Proportional Hazards Models ,Risk Factors ,Skin Neoplasms ,melanoma ,disease-specific survival ,nevi ,phenotypic characteristics ,GEM Study Group ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Although nevus count is an established risk factor for melanoma, relationships between nevus number and patient and tumor characteristics have not been well studied and the influence of nevus count on melanoma-specific survival is equivocal. Using data from the Genes, Environment and Melanoma (GEM) study, a large population-based study of primary cutaneous melanoma, we evaluated associations between number of nevi and patient features, including sun-sensitivity summarized in a phenotypic index, and tumor characteristics. We also assessed the association of nevus count with melanoma-specific survival. Higher nevus counts were independently and positively associated with male gender and younger age at diagnosis, and they were inversely associated with lentigo maligna histology. We observed a borderline significant trend of poorer melanoma-specific survival with increasing quartile of nevus count, but little or no association between number of nevi and pigmentary phenotypic characteristics or prognostic tumor features.
- Published
- 2016
42. Association of Interferon Regulatory Factor-4 Polymorphism rs12203592 With Divergent Melanoma Pathways
- Author
-
Gibbs, David C, Orlow, Irene, Bramson, Jennifer I, Kanetsky, Peter A, Luo, Li, Kricker, Anne, Armstrong, Bruce K, Anton-Culver, Hoda, Gruber, Stephen B, Marrett, Loraine D, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Dwyer, Terence, Sharma, Ajay, La Pilla, Emily, From, Lynn, Busam, Klaus J, Cust, Anne E, Ollila, David W, Begg, Colin B, Berwick, Marianne, and Thomas, Nancy E
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Climate-Related Exposures and Conditions ,Cancer ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Adult ,Age of Onset ,Aged ,Female ,Genetic Predisposition to Disease ,Genotype ,Humans ,Interferon Regulatory Factors ,Logistic Models ,Male ,Melanoma ,Middle Aged ,Odds Ratio ,Phenotype ,Polymorphism ,Single Nucleotide ,Principal Component Analysis ,Skin Neoplasms ,Sunlight ,Whites ,GEM Study Group ,White People ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
BackgroundSolar elastosis and neval remnants are histologic markers characteristic of divergent melanoma pathways linked to differences in age at onset, host phenotype, and sun exposure. However, the association between these pathway markers and newly identified low-penetrance melanoma susceptibility loci remains unknown.MethodsIn the Genes, Environment and Melanoma (GEM) Study, 2103 Caucasian participants had first primary melanomas that underwent centralized pathology review. For 47 single-nucleotide polymorphisms (SNPs) previously identified as low-penetrant melanoma risk variants, we used multinomial logistic regression to compare melanoma with solar elastosis and melanoma with neval remnants simultaneously to melanoma with neither of these markers, excluding melanomas with both markers. All statistical tests were two-sided.ResultsIRF4 rs12203592 was the only SNP to pass the false discovery threshold in baseline models adjusted for age, sex, and study center. rs12203592*T was associated positively with melanoma with solar elastosis (odds ratio [OR] = 1.47, 95% confidence interval [CI] = 1.18 to 1.82) and inversely with melanoma with neval remnants (OR = 0.65, 95% CI = 0.48 to 0.87) compared with melanoma with neither marker (P global = 3.78 x 10(-08)). Adjusting for phenotypic characteristics and total sun exposure hours did not materially affect rs12203592's associations. Distinct early- and late-onset age distributions were observed in patients with IRF4 rs12203592 [CC] and [TT] genotypes, respectively.ConclusionsOur findings suggest a role of IRF4 rs12203592 in pathway-specific risk for melanoma development. We hypothesize that IRF4 rs12203592 could underlie in part the bimodal age distribution reported for melanoma and linked to the divergent pathways.
- Published
- 2016
43. Melanoma Epidemiology and Prevention
- Author
-
Berwick, Marianne, Buller, David B, Cust, Anne, Gallagher, Richard, Lee, Tim K, Meyskens, Frank, Pandey, Shaily, Thomas, Nancy E, Veierød, Marit B, and Ward, Sarah
- Subjects
Prevention ,Genetic Testing ,Genetics ,Climate-Related Exposures and Conditions ,Cancer ,2.2 Factors relating to the physical environment ,Aetiology ,Gene-Environment Interaction ,Humans ,Melanoma ,Mutation ,Occupational Exposure ,Risk Factors ,Sunlight ,Epidemiology ,Risk factors ,Genetic factors ,Host characteristics ,Oncology and Carcinogenesis - Abstract
The epidemiology of melanoma is complex, and individual risk depends on sun exposure, host factors, and genetic factors, and in their interactions as well. Sun exposure can be classified as intermittent, chronic, or cumulative (overall) exposure, and each appears to have a different effect on type of melanoma. Other environmental factors, such as chemical exposures-either through occupation, atmosphere, or food-may increase risk for melanoma, and this area warrants further study. Host factors that are well known to be important are the numbers and types of nevi and the skin phenotype. Genetic factors are classified as high-penetrant genes, moderate-risk genes, or low-risk genetic polymorphisms. Subtypes of tumors, such as BRAF-mutated tumors, have different risk factors as well as different therapies. Prevention of melanoma has been attempted using various strategies in specific subpopulations, but to date optimal interventions to reduce incidence have not emerged.
- Published
- 2016
44. Acceptability and appropriateness of a risk-tailored organised melanoma screening program: Qualitative interviews with key informants
- Author
-
Dunlop, Kate L. A., primary, Keogh, Louise A., additional, Smith, Andrea L., additional, Aranda, Sanchia, additional, Aitken, Joanne, additional, Watts, Caroline G., additional, Smit, Amelia K., additional, Janda, Monika, additional, Mann, Graham J., additional, Cust, Anne E., additional, and Rankin, Nicole M., additional
- Published
- 2023
- Full Text
- View/download PDF
45. Unpacking factors contributing to melanoma overdiagnosis: does polygenic risk play a role?
- Author
-
Smit, Amelia K, primary and Cust, Anne E, additional
- Published
- 2023
- Full Text
- View/download PDF
46. PO145 DEVELOPMENT OF A HEALTH RECORD LINKAGE METHOD FOR ESTIMATING METASTATIC BREAST CANCER PREVALENCE IN NEW SOUTH WALES (NSW), AUSTRALIA
- Author
-
Smith, Andrea, primary, Yu, Xue Qin, additional, O’Connell, Dianne, additional, Houssami, Nehmat, additional, Cust, Anne, additional, Smith, David, additional, David, Michael, additional, and Lord, Sally, additional
- Published
- 2023
- Full Text
- View/download PDF
47. Can patient-led surveillance detect subsequent new primary or recurrent melanomas and reduce the need for routinely scheduled follow-up? A protocol for the MEL-SELF randomised controlled trial
- Author
-
Ackermann, Deonna M., Smit, Amelia K., Janda, Monika, van Kemenade, Cathelijne H., Dieng, Mbathio, Morton, Rachael L., Turner, Robin M., Cust, Anne E., Irwig, Les, Hersch, Jolyn K., Guitera, Pascale, Soyer, H. Peter, Mar, Victoria, Saw, Robyn P. M., Low, Donald, Low, Cynthia, Drabarek, Dorothy, Espinoza, David, Emery, Jon, Murchie, Peter, Thompson, John F., Scolyer, Richard A., Azzi, Anthony, Lilleyman, Alister, and Bell, Katy J. L.
- Published
- 2021
- Full Text
- View/download PDF
48. Sun Exposure and Cancer Risk
- Author
-
Dobbinson, Suzanne J., additional, Girgis, Afaf, additional, Armstrong, Bruce K., additional, and Cust, Anne E., additional
- Published
- 2021
- Full Text
- View/download PDF
49. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
- Author
-
Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.
- Published
- 2020
- Full Text
- View/download PDF
50. Inherited Genetic Variants Associated with Occurrence of Multiple Primary Melanoma
- Author
-
Gibbs, David C, Orlow, Irene, Kanetsky, Peter A, Luo, Li, Kricker, Anne, Armstrong, Bruce K, Anton-Culver, Hoda, Gruber, Stephen B, Marrett, Loraine D, Gallagher, Richard P, Zanetti, Roberto, Rosso, Stefano, Dwyer, Terence, Sharma, Ajay, La Pilla, Emily, From, Lynn, Busam, Klaus J, Cust, Anne E, Ollila, David W, Begg, Colin B, Berwick, Marianne, and Thomas, Nancy E
- Subjects
Genetics ,Clinical Research ,Cancer ,Australia ,Biomarkers ,Tumor ,Canada ,Case-Control Studies ,Europe ,Follow-Up Studies ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Haplotypes ,Humans ,International Agencies ,Melanoma ,Neoplasm Invasiveness ,Neoplasm Staging ,Phenotype ,Polymorphism ,Single Nucleotide ,Prognosis ,Skin Neoplasms ,United States ,GEM Study Group ,Medical and Health Sciences ,Epidemiology - Abstract
Recent studies, including genome-wide association studies, have identified several putative low-penetrance susceptibility loci for melanoma. We sought to determine their generalizability to genetic predisposition for multiple primary melanoma in the international population-based Genes, Environment, and Melanoma (GEM) Study. GEM is a case-control study of 1,206 incident cases of multiple primary melanoma and 2,469 incident first primary melanoma participants as the control group. We investigated the odds of developing multiple primary melanoma for 47 SNPs from 21 distinct genetic regions previously reported to be associated with melanoma. ORs and 95% confidence intervals were determined using logistic regression models adjusted for baseline features (age, sex, age by sex interaction, and study center). We investigated univariable models and built multivariable models to assess independent effects of SNPs. Eleven SNPs in 6 gene neighborhoods (TERT/CLPTM1L, TYRP1, MTAP, TYR, NCOA6, and MX2) and a PARP1 haplotype were associated with multiple primary melanoma. In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0.004), TYRP1 rs2733832 (P = 0.006), MTAP rs1335510 (P = 0.0005), TYR rs10830253 (P = 0.003), and MX2 rs45430 (P = 0.008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0.06). The GEM Study provides additional evidence for the relevance of these genetic regions to melanoma risk and estimates the magnitude of the observed genetic effect on development of subsequent primary melanoma.
- Published
- 2015
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.