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1. Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

Author

Janezic, SA, Ziogas, A, Krumroy, LM, Krasner, M, Plummer, SJ, Cohen, P, Gildea, M, Barker, D, Haile, R, Casey, G, and Anton-Culver, H

Subjects
Humans, Ovarian Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, Risk Factors, Case-Control Studies, Age Distribution, Gene Frequency, Heterozygote, Germ-Line Mutation, Polymorphism, Genetic, Adult, Aged, Aged, 80 and over, Middle Aged, European Continental Ancestry Group, Female, Genetic Variation, Polymorphism, Genetic, and over, Biotechnology, Genetics, Rare Diseases, Clinical Research, Prevention, Cancer, Genetic Testing, Ovarian Cancer, Breast Cancer, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 ( BRCA1 ) germline alterations in the ovarian cancer population. To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases. This is the first population-based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region. One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing. Two truncating mutations, 962del4 and 3600del11, were identified. Both patients had a family history of breast or ovarian cancer. Several novel as well as previously reported uncharacterized variants were also identified, some of which were associated with a family history of cancer. The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele-specific amplification. The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. In summary, our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk, and highlight the necessity to screen for missense alterations as well as truncating mutations in this population.

Published
1999

2. 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, 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, 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, Wong, Collaborators (98): Alaibac M, Terence H., Ferrari, A, Valeri, B, Et, Al., Pellegrini, C., Botta, F., Massi, D., Martorelli, C., Facchetti, F., Gandini, S., Maisonneuve, P., Avril, M. -F., Demenais, F., Bressac-de Paillerets, B., Hoiom, V., Cust, A. E., Anton-Culver, H., Gruber, S. B., Gallagher, R. P., Marrett, L., Zanetti, R., Dwyer, T., Thomas, N. E., Begg, C. B., Berwick, M., Puig, S., Potrony, M., Nagore, E., Ghiorzo, P., Menin, C., Manganoni, A. M., Rodolfo, M., Brugnara, S., Passoni, E., Sekulovic, L. K., Baldini, F., Guida, G., Stratigos, A., Ozdemir, F., Ayala, F., Fernandez-de-Misa, R., Quaglino, P., Ribas, G., Romanini, A., Migliano, E., Stanganelli, I., Kanetsky, P. A., Pizzichetta, M. A., Garcia-Borron, J. C., Nan, H., Landi, M. T., Little, J., Newton-Bishop, J., Sera, F., Fargnoli, M. C., Raimondi, S., Alaibac, M., Ferrari, A., Valeri, B., Sicher, M., Mangiola, D., Nazzaro, G., Tosti, G., Mazzarol, G., Giudice, G., Ribero, S., Astrua, C., Mazzoni, L., Orlow, I., Mujumdar, U., Hummer, A., Busam, K., Roy, P., Canchola, R., Clas, B., Cotignola, J., Monroe, Y., Armstrong, B., Kricker, A., Litchfield, M., Tucker, P., Stephens, N., Switzer, T., Theis, B., From, L., Chowdhury, N., Vanasse, L., Purdue, M., Northrup, D., Rosso, S., Sacerdote, C., Leighton, N., Gildea, M., Bonner, J., Jeter, J., Klotz, J., Wilcox, H., Weiss, H., Millikan, R., Mattingly, D., Player, J., Tse, C. -K., Rebbeck, T., Walker, A., Panossian, S., Setlow, R., Mohrenweiser, H., Autier, P., Han, J., Caini, S., Hofman, A., Kayser, M., Liu, F., Nijsten, T., Uitterlinden, A. G., Kumar, R., Bishop, T., Elliott, F., Lazovich, D., Polsky, D., Hansson, J., Pastorino, L., Gruis, N. A., Bouwes Bavinck, J. N., Aguilera, P., Badenas, C., Carrera, C., Gimenez-Xavier, P., Malvehy, J., Puig-Butille, J. A., Tell-Marti, G., Blizzard, L., Cochrane, J., Branicki, W., Debniak, T., Morling, N., Johansen, P., Mayne, S., Bale, A., Cartmel, B., Ferrucci, L., Pfeiffer, R., Palmieri, G., Kypreou, K., Bowcock, A., Cornelius, L., Council, M. L., Motokawa, T., Anno, S., Helsing, P., Andresen, P. A., Guida, S., Wong, T. H., Ege Üniversitesi, Epidemiology, Genetic Identification, and Dermatology

Subjects
Male, Skin Neoplasms, Pediatrics, Cohort Studies, 0302 clinical medicine, Odds Ratio, Developmental and Educational Psychology, Pediatrics, Perinatology and Child Health, 030212 general & internal medicine, Child, Cancer, Pediatric, Tumor, childhood disease, Middle Aged, Perinatology and Child Health, cohort analysis, Meta-analysis, Melanocortin, Cohort, Female, MC1R gene, Receptor, Melanocortin, Type 1, Receptor, Type 1, Cohort study, Adult, medicine.medical_specialty, adolescent, melanoma, cohort analysi, Subgroup analysis, Article, 03 medical and health sciences, Genetic, Clinical Research, 030225 pediatrics, Internal medicine, Genetics, Biomarkers, Tumor, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, Germ-Line Mutation, Aged, Retrospective Studies, Polymorphism, Genetic, business.industry, Prevention, Case-control study, Retrospective cohort study, GEM Study Group, Odds ratio, Logistic Models, M-SKIP Study Group, Case-Control Studies, Cutaneous melanoma, IMI Study Group, business, Biomarkers
Abstract

Ferrari, Andrea/0000-0002-4724-0517; Pellegrini, Cristina/0000-0003-2168-8097; Migliano, Emilia/0000-0002-5316-8937; Maisonneuve, Patrick/0000-0002-5309-4704; Guida, Stefania/0000-0002-8221-6694; Pastorino, Lorenza/0000-0002-2575-8331; CARRERA, CRISTINA/0000-0003-1608-8820; Paillerets, Brigitte Bressac-de/0000-0003-0245-8608; Sekulovic, Lidija Kandolf/0000-0002-5221-5068; Caini, Saverio/0000-0002-2262-1102; Potrony, Miriam/0000-0003-2766-0765; Pizzichetta, Maria Antonietta/0000-0002-4201-8490; Little, Julian/0000-0001-5026-5531; Nagore, Eduardo/0000-0003-3433-8707; Polsky, David/0000-0001-9554-5289; Demenais, Florence/0000-0001-8361-0936; Nazzaro, Gianluca/0000-0001-8534-6497; gandini, sara/0000-0002-1348-4548; Cornelius, Lynn A/0000-0002-6329-2819; Palmieri, Giuseppe/0000-0002-4350-2276; Cotignola, Javier/0000-0003-4473-9854; Ghiorzo, Paola/0000-0002-3651-8173; Autier, Philippe/0000-0003-1538-5321; Bishop, Tim/0000-0002-8752-8785; Sera, Francesco/0000-0002-8890-6848; Newton-Bishop, Julia/0000-0001-9147-6802; Litchfield, Melisa/0000-0003-0002-7724, WOS: 000464254100018, PubMed: 30872112, Background 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 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. Methods in 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. Findings We 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. Interpretation Our 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. Copyright (c) 2019 Elsevier Ltd. All rights reserved., [AIRC-MFAG-11831]; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P30CA016086, P01CA206980, P30CA016086, P30CA016086] Funding Source: NIH RePORTER, SPD-Pilot/Project-Award-2015; AIRC-MFAG-11831.

Published
2019

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