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1. 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

2. CDKN2A Germline Mutations in Individuals with Cutaneous Malignant Melanoma

Author

Orlow, Irene, Begg, Colin B, Cotignola, Javier, Roy, Pampa, Hummer, Amanda J, Clas, Brian A, Mujumdar, Urvi, Canchola, Rebecca, Armstrong, Bruce K, Kricker, Anne, Marrett, Loraine D, Millikan, Robert C, Gruber, Stephen B, Anton-Culver, Hoda, Zanetti, Roberto, Gallagher, Richard P, Dwyer, Terence, Rebbeck, Timothy R, Kanetsky, Peter A, Wilcox, Homer, Busam, Klaus, From, Lynn, Berwick, Marianne, and Group, for the GEM Study

Subjects
Genetic Testing, Climate-Related Exposures and Conditions, Clinical Research, Rare Diseases, Cancer, Genetics, 2.1 Biological and endogenous factors, Aetiology, Cyclin-Dependent Kinase Inhibitor p16, DNA, Neoplasm, Exons, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Melanoma, Risk Factors, Skin Neoplasms, GEM Study Group, Clinical Sciences, Oncology and Carcinogenesis, Dermatology & Venereal Diseases
Abstract

Cyclin-dependent kinase inhibitor type 2A (CDKN2A) has been identified as a major melanoma susceptibility gene based on the presence of germline mutations in high-risk melanoma families. In this study, we sought to identify and characterize the spectrum of CDKN2A mutations affecting p16 inhibitor of cyclin-dependent kinase type 4 (INK4a) in individuals with melanoma using a population-based study design. DNA samples from 1189 individuals with incident multiple primary melanoma (MPM) and 2424 with incident single primary melanoma unselected for family history of melanoma were available for screening of CDKN2A (p16INK4a) mutations. Variants were classified for functional impact based on intragenic position, existing functional data, sequence, and structural analysis. The impact of individual mutations and functional groupings was assessed by comparing frequencies in cases of MPM versus cases with a single first primary melanoma, and by comparing the reported incidence rates in first-degree relatives. Our results show that mutations occur infrequently in these high-risk groups, and that they occur mainly in exons 1alpha and 2. Rare coding variants with putative functional impact are observed to increase substantially the risk of melanoma. With the exception of the variant in position -34 of CDKN2A of known functional consequence, the remaining rare variants in the non-coding region have no apparent impact on risk.

Published
2007

4. MC1Rvariants 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, Bressac-de Paillerets, Brigitte, 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, Alaibac, Mauro, Ferrari, Andrea, Valeri, Barbara, Sicher, Mariacristina, Mangiola, Daniela, Nazzaro, Gianluca, Tosti, Giulio, Mazzarol, Giovanni, Giudice, Giuseppe, Ribero, Simone, Astrua, Chiara, Romanini, Antonella, Mazzoni, Laura, 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, Player, Jon, Tse, Chiu-Kit, Rebbeck, Timothy, Walker, Amy, Panossian, Saarene, Setlow, Richard, Mohrenweiser, Harvey, Autier, Philippe, Han, Jiali, Caini, Saverio, Hofman, Albert, Kayser, Manfred, Liu, Fan, Nijsten, Tamar, Uitterlinden, Andre G., Kumar, Rajiv, Bishop, Tim, Elliott, Faye, Lazovich, DeAnn, Polsky, David, Hansson, Johan, Pastorino, Lorenza, Gruis, Nelleke A., Bouwes Bavinck, Jan Nico, Aguilera, Paula, Badenas, Celia, Carrera, Cristina, Gimenez-Xavier, Pol, Malvehy, Josep, Puig-Butille, Joan Anton, Tell-Marti, Gemma, Blizzard, Leigh, Cochrane, Jennifer, Branicki, Wojciech, Debniak, Tadeusz, Morling, Niels, Johansen, Peter, Mayne, Susan, Bale, Allen, Cartmel, Brenda, Ferrucci, Leah, Pfeiffer, Ruth, Palmieri, Giuseppe, Kypreou, Katerina, Bowcock, Anne, Cornelius, Lynn, Council, M. Laurin, Motokawa, Tomonori, Anno, Sumiko, Helsing, Per, Andresen, Per Arne, Guida, Stefania, and Wong, Terence H.

Abstract

Germline 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 MC1Rvariants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1Rvariants in child or adolescent patients with melanoma to that in adult patients with melanoma and in healthy adult controls.

Published
2019
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5. Associations of Cumulative Sun Exposure and Phenotypic Characteristics with Histologic Solar Elastosis

Author

Tucker, Paul, Marrett, Loraine D., Berwick, Marianne, Mohrenweiser, Harvey, Gildea, Maureen, Litchfield, Melisa, Rebbeck, Timothy R., Hummer, Amanda J., Kricker, Anne, Kanetsky, Peter, Bonner, Joe, Gruber, Stephen B., Anton-Culver, Hoda, Madronich, Sasha, Goumas, Chris, Orlow, Irene, Purdue, Mark, Begg, Colin B., Thomas, Nancy E., Setlow, Richard, Sacerdote, Carlotta, Stephens, Nicola, Cotignola, Javier, Taylor, Julia Lee, Lee-Taylor, Julia, Kanetsky, Peter A., Switzer, Teresa, Monroe, Yvette, Chowdhury, Noori, Theis, Elizabeth, Panossian, Saarene, Weiss, Helen, Player, Jon, Wilcox, Homer, Vanasse, Louise, Busam, Klaus, Dwyer, Terence, From, Lynn, Ritchey, Mary E., Canchola, Rebecca, Tse, Chiu Kit, Roy, Pampa, Paine, Susan, Jeter, Joanne, Leighton, Nancy, Rosso, Stefano, Armstrong, Bruce K., Clas, Brian, Mujumdar, Urvi, Zanetti, Roberto, Millikan, Robert C., Northrup, David, Mattingly, Dianne, Klotz, Judith, Walker, Amy, Gallagher, Richard P., and Mitra, Nandita

Subjects
Male, Pathology, medicine.medical_specialty, Skin Neoplasms, Epidemiology, Population, Skin Pigmentation, Article, Ciencias Biológicas, Biología Celular, Microbiología, medicine, Odds Ratio, Humans, Solar Elastosis, education, Ultraviolet radiation, Melanoma, Sunlight, education.field_of_study, integumentary system, business.industry, Uv Exposure, Age Factors, food and beverages, Odds ratio, Middle Aged, medicine.disease, Elastic Tissue, Dermatology, Confidence interval, Phenotype, Oncology, biological sciences, Female, Sun exposure, business, CIENCIAS NATURALES Y EXACTAS
Abstract

Background: Solar elastosis adjacent to melanomas in histologic sections is regarded as an indicator of sun exposure, although the associations of UV exposure and phenotype with solar elastosis are yet to be fully explored. Methods: The study included 2,589 incident primary melanoma patients with assessment of histologic solar elastosis in the population-based Genes, Environment, and Melanoma study. Ambient erythemal UV (UVE) at places of residence and sun exposure hours, including body site-specific exposure, were collected. We examined the association of cumulative site-specific and non-site-specific sun exposure hours and ambient UVE with solar elastosis in multivariable models adjusted for age, sex, center, pigmentary characteristics, nevi, and, where relevant, body site. Results: Solar elastosis was associated most strongly with site-specific UVE [odds ratio (OR) for top exposure quartile, 5.20; 95% confidence interval (95% CI), 3.40-7.96; P for trend 70 years, 7.69; 95% CI, 5.14-11.52; P for trend < 0.001) and having more than 10 back nevi (OR, 0.77; 95% CI, 0.61-0.97; P = 0.03) were independently associated with solar elastosis. Conclusion: Solar elastosis had a strong association with higher site-specific UVE dose, older age, and fewer nevi. Impact: Solar elastosis could be a useful biomarker of lifetime site-specific UV. Future research is needed to explore whether age represents more than simple accumulation of sun exposure and to determine why people with more nevi may be less prone to solar elastosis. Fil: Thomas, Nancy E.. Fil: Kricker, Anne. Fil: From, Lynn. Fil: Busam, Klaus. Fil: Millikan, Robert C.. Fil: Ritchey, Mary E.. Fil: Armstrong, Bruce K.. Fil: Lee-Taylor, Julia. Fil: Marrett, Loraine D.. Fil: Anton-Culver, Hoda. Fil: Zanetti, Roberto. Fil: Rosso, Stefano. Fil: Gallagher, Richard P.. Fil: Dwyer, Terence. Fil: Goumas, Chris. Fil: Kanetsky, Peter A.. Fil: Begg, Colin B.. Fil: Orlow, Irene. Fil: Wilcox, Homer. Fil: Paine, Susan. Fil: Berwick, Marianne. Fil: Mujumdar, Urvi. Fil: Hummer, Amanda J.. Fil: Mitra, Nandita. Fil: Roy, Pampa. Fil: Canchola, Rebecca. Fil: Clas, Brian. Fil: Cotignola, Javier Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales; Argentina Fil: Monroe, Yvette. Fil: Litchfield, Melisa. Fil: Tucker, Paul. Fil: Stephens, Nicola. Fil: Switzer, Teresa. Fil: Theis, Elizabeth. Fil: Chowdhury, Noori. Fil: Vanasse, Louise. Fil: Purdue, Mark. Fil: Northrup, David. Fil: Sacerdote, Carlotta. Fil: Leighton, Nancy. Fil: Gildea, Maureen. Fil: Gruber, Stephen B.. Fil: Bonner, Joe. Fil: Jeter, Joanne. Fil: Klotz, Judith. Fil: Weiss, Helen. Fil: Mattingly, Dianne. Fil: Player, Jon. Fil: Tse, Chiu-Kit. Fil: Rebbeck, Timothy R.. Fil: Kanetsky, Peter. Fil: Walker, Amy. Fil: Panossian, Saarene. Fil: Mohrenweiser, Harvey. Fil: Setlow, Richard. Fil: Taylor, Julia Lee. Fil: Madronich, Sasha.

Published
2010
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6. Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4AGene Mutations

Author

Orlow, Irene, Roy, Pampa, Barz, Allison, Canchola, Rebecca, Song, Yan, and Berwick, Marianne

Abstract

The incidence of melanoma is increasing rapidly in western countries. Genetic predisposition in familial and in some sporadic melanomas has been associated with the presence of INK4Agene mutations. To better define the risk for developing sporadic melanoma based on genetic and environmental interactions, large groups of cases need to be studied. Mutational analysis of genes lacking hot spots for sequence variations is time consuming and expensive. In this study we present the application of denaturing high performance liquid chromatography (DHPLC) for screening of mutations. Exons 1α, 2, and 3 were amplified from 129 samples and 13 known mutants, yielding 347 products that were examined at different temperatures. Forty-two of these amplicons showed a distinct non-wild-type profile on the chromatogram. Independent sequencing analysis confirmed 16 different nucleotide variations in Leu32Pro; Ile49Thr; 88 del G; Gln50Arg; Arg24Pro; Met53Ile; Met53Thr; Arg58stop; Pro81Leu; Asp84Ala; Arg80stop; Gly101Trp; Val106Val; Ala148Thr; and in positions (−2) in intron 1 (C → T); and in the 3′ UTR, nucleotide 500 (C → G). No false negatives or false positives were obtained by DHPLC in samples with mutations or polymorphisms. We conclude that the DHPLC is a fast, sensitive, cost-efficient, and reliable method for the scanning of INK4Asomatic or germline mutations and polymorphisms of large number of samples.

Published
2001
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7. CDKN2A Germline Mutations in Individuals with Cutaneous Malignant Melanoma

Author

Canchola, Rebecca, Gruber, Stephen, Clas, Brian, Dwyer, Terence, Kanetsky, Peter, Zanetti, Roberto, Mujumdar, Urvi, Roy, Pampa, Orlow, Irene, Berwick, Marianne, Busam, Klaus, Begg, Colin, Cotignola, Javier, Millikan, Robert, Hummer, Amanda, Anton-Culver, Hoda, Rebbeck, Timothy, From, Lynn, Armstrong, Bruce, Wilcox, Homer, Marrett, Loraine, GEM Study Group, Kricker, Anne, and Gallagher, Richard

Subjects
neoplasms, 3. Good health
Abstract

Cyclin-dependent kinase inhibitor type 2A (CDKN2A) has been identified as a major melanoma susceptibility gene based on the presence of germline mutations in high-risk melanoma families. In this study, we sought to identify and characterize the spectrum of CDKN2A mutations affecting p16 inhibitor of cyclin-dependent kinase type 4 (INK4a) in individuals with melanoma using a population-based study design. DNA samples from 1189 individuals with incident multiple primary melanoma (MPM) and 2424 with incident single primary melanoma unselected for family history of melanoma were available for screening of CDKN2A (p16INK4a) mutations. Variants were classified for functional impact based on intragenic position, existing functional data, sequence, and structural analysis. The impact of individual mutations and functional groupings was assessed by comparing frequencies in cases of MPM versus cases with a single first primary melanoma, and by comparing the reported incidence rates in first-degree relatives. Our results show that mutations occur infrequently in these high-risk groups, and that they occur mainly in exons 1alpha and 2. Rare coding variants with putative functional impact are observed to increase substantially the risk of melanoma. With the exception of the variant in position -34 of CDKN2A of known functional consequence, the remaining rare variants in the non-coding region have no apparent impact on risk.

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