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2. Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author

Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, and Easton, Douglas F.

Published
2008
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3. Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapy

Author

Apetoh, Lionel, Ghiringhelli, Francois, Tesniere, Antoine, Obeid, Michel, Ortiz, Carla, Criollo, Alfredo, Mignot, Gregoire, Maiuri, M Chiara, Ullrich, Evelyn, Saulnier, Patrick, Yang, Huan, Amigorena, Sebastian, Ryffel, Bernard, Barrat, Franck J, Saftig, Paul, Levi, Francis, Lidereau, Rosette, Nogues, Catherine, Mira, Jean-Paul, Chompret, Agnes, Joulin, Virginie, Clavel-Chapelon, Francoise, Bourhis, Jean, Andre, Fabrice, Delaloge, Suzette, Tursz, Thomas, Kroemer, Guido, and Zitvogel, Laurence

Subjects
Apoptosis -- Health aspects, Apoptosis -- Research, Cell receptors -- Health aspects, Cell receptors -- Research, Immune system -- Health aspects, Immune system -- Research, Cancer -- Care and treatment, Cancer -- Health aspects, Cancer -- Research
Abstract

Conventional cancer treatments rely on radiotherapy and chemotherapy. Such treatments supposedly mediate their effects via the direct elimination of tumor cells. Here we show that the success of some protocols for anticancer therapy depends on innate and adaptive antitumor immune responses. We describe in both mice and humans a previously unrecognized pathway for the activation of tumor antigen-specific T-cell immunity that involves secretion of the high-mobility-group box 1 (HMGB1) alarmin protein by dying tumor cells and the action of HMGB1 on Toll-like receptor 4 (TLR4) expressed by dendritic cells (DCs). During chemotherapy or radiotherapy, DCs require signaling through TLR4 and its adaptor MyD88 for efficient processing and cross-presentation of antigen from dying tumor cells. Patients with breast cancer who carry a TLR4 loss-of-function allele relapse more quickly after radiotherapy and chemotherapy than those carrying the normal TLR4 allele. These results delineate a clinically relevant immunoadjuvant pathway triggered by tumor cell death., Author(s): Lionel Apetoh [1, 2, 3, 20]; Francois Ghiringhelli [1, 2, 3, 4, 20]; Antoine Tesniere [1, 2, 5, 20]; Michel Obeid [1, 2, 5]; Carla Ortiz [1, 2, 3]; [...]

Published
2007

7. The Y deletion gr/gr and susceptibility to testicular germ cell tumor

Author

Nathanson, Katherine L., Kanetsky, Peter A., Hawes, Rachel, Vaughn, David J., Letrero, Richard, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stephane, Chompret, Agnes, Bonaiti-Pellie, Catherine, Heidenreich, Axel, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Oosterhuis, J. Wolter, Gillis, Ad J.M., Looijenga, Leendert H.J., Guilford, Parry, Fossa, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Rudd, Matthew, Huddart, Robert, Crockford, Gillian P., Forman, David, Oliver, D. Timothy, Einhorn, Lawrence, Weber, Barbara L., Kramer, Joan, McMaster, Mary, Greene, Mark H., Pike, Malcolm, Cortessis, Victoria, Chen, Chu, Schwartz, Stephen M., Bishop, D. Timothy, Easton, Douglas F., Stratton, Michael R., and Rapley, Elizabeth A.

Subjects
Germ cell tumors -- Research, Germ cell tumors -- Diagnosis, Germ cell tumors -- Risk factors, Human genetics -- Research, Biological sciences
Published
2005

10. Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries

Author

Goldstein, Alisa M., Chaudru, Valerie, Ghiorzo, Paola, Badenas, Celia, Malvehy, Josep, Pastorino, Lorenza, Laud, Karine, Hulley, Benjamin, Avril, Marie-Francoise, Puig-Butille, Joan A., Miniere, Annie, Marti, Rosa, Chompret, Agnes, Cuellar, Francisco, Kolm, Isabel, Mila, Montserrat, Tucker, Margaret A., Demenais, Florence, Bianchi-Scarra, Giovanna, Puig, Susana, and de-Paillerets, Brigitte Bressac

Published
2007
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11. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Author

Goldstein, Alisa M, Chan, May, Harland, Mark, Hayward, Nicholas K, Demenais, Florence, Bishop, D Timothy, Azizi, Esther, Bergman, Wilma, Bianchi-Scarra, Giovanna, Bruno, William, Calista, Donato, Albright, Lisa A Cannon, Chaudru, Valerie, Chompret, Agnes, Cuellar, Francisco, Elder, David E, Ghiorzo, Paola, Gillanders, Elizabeth M, Gruis, Nelleke A, Hansson, Johan, Hogg, David, Holland, Elizabeth A, Kanetsky, Peter A, Kefford, Richard F, Landi, Maria Teresa, Lang, Julie, Leachman, Sancy A, MacKie, Rona M, Magnusson, Veronica, Mann, Graham J, Bishop, Julia Teresa, Palmer, Jane M, Puig, Susana, Puig-Butille, Joan A, Stark, Mitchell, Tsao, Hensin, Tucker, Margaret A, Whitaker, Linda, and Yakobson, Emanuel

Published
2007

12. Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

Author

Crockford, Gillian P., Linger, Rachel, Hockley, Sarah, Dudakia, Darshna, Johnson, Lola, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stéphane, Chompret, Agnes, Bonaïti-Pellié, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Guilford, Parry, Fosså, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Forman, David, Oliver, Timothy, Einhorn, Lawrence, McMaster, Mary, Kramer, Joan, Greene, Mark H., Weber, Barbara L., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., and Rapley, Elizabeth A.

Published
2006

14. Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

Author

Andrieu, Nadine, Goldgar, David E., Easton, Douglas F., Rookus, Matti, Brohet, Richard, Antoniou, Antonis C., Peock, Susan, Evans, Gareth, Eccles, Diana, Douglas, Fiona, Nogues, Catherine, Gauthier-Villars, Marion, Chompret, Agnes, Van Leeuwen, Flora E., Kluot, Irma, Benitez, Javier, Arver, Brita, Olah, Edith, and Chang-Claude, Jenny

Subjects
Breast cancer -- Prevention, Breast cancer -- Genetic aspects, Breast cancer -- Case studies, Breast feeding -- Influence, Breast feeding -- Case studies, Pregnancy -- Influence, Pregnancy -- Case studies, Health
Abstract

Background: Multiparity, young age at first childbirth, and breast-feeding are associated with a reduced risk of breast cancer in the general population. The breast cancer predisposition gene, BRCA1, regulates normal cell differentiation. Because mammary gland cells divide and differentiate during pregnancy, reproductive factors may influence breast cancer risk in BRCAl/2 mutation carriers differently than they do in noncarriers. Methods: We performed a retrospective cohort study of 1601 women in the international BRCA1/2 Carrier Cohort Study cohort, all of whom carried a mutation in BRCA1 or BRCA2. Information on reproductive factors was obtained from a questionnaire. At the time of interview 853 subjects were classified with breast cancer. Data were analyzed by using a weighted cohort approach. All statistical tests were two-sided. Results: There was no statistically significant difference in the risk of breast cancer between parous and nulliparous women. Among parous women, an increasing number of full-term pregnancies was associated with a statistically significant decrease in the risk of breast cancer ([P.sub.trend] = .008); risk was reduced by 14% (95% confidence interval [CI] = 6% to 22%) for each additional birth. This association was the same for carriers of mutations in either BRCA1 or BRCA2 and was restricted to women older than 40 years. In BRCA2 mutation carriers, first childbirth at later ages was associated with an increased risk of breast cancer compared with first childbirth before age 20 years (20-24 years, hazard ratio [HRI] = 2.33 195% CI = 0.93 to 5.83]; 25-29 years, HR = 2.68 [95% CI = 1.02 to 7.071; [greater than or equal to] 30 years, HR = 1.97 [95% CI = 0.67 to 5.811), whereas in BRCA1 mutation carriers, first childbirth at age 30 years or later was associated with a reduced risk of breast cancer compared with first childbirth before age 20 years (HR = 0.58 195% CI = 0.36 to 0.94]). Neither history of interrupted pregnancies (induced abortions or miscarriage) nor history of breast-feeding was statistically significantly associated with the risk of breast cancer. Conclusions: BRCA1 and BRCA2 mutation carriers older than 40 years show a similar reduction in breast cancer risk with increasing parity as non-carriers. [J Natl Cancer Inst 2006;98:535-44]

Published
2006

16. Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families

Author

Chaudru, Valerie, Chompret, Agnes, Bressac-de Paillerets, Brigitte, Spatz, Alain, Avril, Marie-Francoise, and Demenais, Florence

Subjects
Family -- Surveys, Melanoma -- Causes of, Melanoma -- Research, Health
Abstract

Background: Few family studies have investigated the effects of genetic, environmental, and host factors on melanoma risk, and most have been restricted to high-risk families. We assessed the role of these factors on melanoma risk in two types of families: families ascertained through melanoma probands but unselected by family history and melanoma-prone families. Methods: Data on pigmentary traits, nevus phenotypes, exposure to sun, and reactions to sunlight were collected from 295 families unselected by family history and 53 melanoma-prone families. We modeled melanoma risk using a logistic regressive model incorporating the effect of a melanoma-predisposing gene, familial dependence, and potential risk factors (e.g., pigmentary traits, nevus phenotypes, history of sun exposure, skin reactions to sunlight). Maximum-likelihood estimates of the parameters of the regressive model were used to compute odds ratios associated with each risk factor and age-specific melanoma risk depending on the genotype at the melanoma-predisposing gene and the effects of risk factors. All statistical tests were two-sided. Results: In the families unselected by family history, there was statistically significant evidence (P

Published
2004

17. Geographical variation in the penetrance of CDKN2A mutations for melanoma

Author

Bishop, D. Timothy, Demenais, Florence, Goldstein, Alisa M., Bergman, Wilma, Newton Bishop, Julia, Bressac-de Paillerets, Brigitte, Chompret, Agnes, Ghiorzo, Paola, Gruis, Nelleke, Hansson, Johan, Harland, Mark, Hayward, Nicholas, Holland, Elizabeth A., Mann, Graham J., Mantelli, Michela, Nancarrow, Derek, Platz, Anton, and Tucker, Margaret A.

Subjects
Melanoma -- Genetic aspects, Gene mutations -- Analysis, Disease susceptibility -- Causes of, Health
Abstract

Background: Germline mutations in the CDKN2A gene, which encodes two proteins (p16INK4A and p14ARF), are the most common cause of inherited susceptibility to melanoma. We examined the penetrance of such mutations using data from eight groups from Europe, Australia and the United States that are part of The Melanoma Genetics Consortium. Methods: We analyzed 80 families with documented CDKN2A mutations and multiple cases of cutaneous melanoma. We modeled penetrance for melanoma using a logistic regression model incorporating survival analysis. Hypothesis testing was based on likelihood ratio tests. Covariates included gender, alterations in p14ARF protein, and population melanoma incidence rates. All statistical tests were two-sided. Results: The 80 analyzed families contained 402 melanoma patients, 320 of whom were tested for mutations and 291 were mutation carriers. We also tested 713 unaffected family members for mutations and 194 were carriers. Overall, CDKN2A mutation penetrance was estimated to be 0.30 (95% confidence interval (CI) = 0.12 to 0.62) by age 50 years and 0.67 (95% CI = 0.31 to 0.96) by age 80 years. Penetrance was not statistically significantly modified by gender or by whether the CDKN2A mutation altered p14ARF protein. However, there was a statistically significant effect of residing in a location with a high population incidence rate of melanoma (P = .003). By age 50 years CDKN2A mutation penetrance reached 0.13 in Europe, 0.50 in the United States, and 0.32 in Australia; by age 80 years it was 0.58 in Europe, 0.76 in the United States, and 0.91 in Australia. Conclusions: This study, which gives the most informed estimates of CDKN2A mutation penetrance available, indicates that the penetrance varies with melanoma population incidence rates. Thus, the same factors that affect population incidence of melanoma may also mediate CDKN2A penetrance. [J Natl Cancer Inst 2002;94:894-903]

Published
2002

24. Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

Author

Crockford, Gillian P., Linger, Rachel, Hockley, Sarah, Dudakia, Darshna, Johnson, Lola, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stéphane, Chompret, Agnes, Bonaïti-Pellié, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Guilford, Parry, Fosså, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Forman, David, Oliver, Timothy, Einhorn, Lawrence, McMaster, Mary, Kramer, Joan, Greene, Mark H., Weber, Barbara L., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., Rapley, Elizabeth A., Crockford, Gillian P., Linger, Rachel, Hockley, Sarah, Dudakia, Darshna, Johnson, Lola, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stéphane, Chompret, Agnes, Bonaïti-Pellié, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Guilford, Parry, Fosså, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Forman, David, Oliver, Timothy, Einhorn, Lawrence, McMaster, Mary, Kramer, Joan, Greene, Mark H., Weber, Barbara L., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., and Rapley, Elizabeth A.

Abstract

A family history of disease is a strong risk factor for testicular germ cell tumour (TGCT). In order to identify the location of putative TGCT susceptibility gene(s) we conducted a linkage search in 237 pedigrees with two or more cases of TGCT. One hundred and seventy-nine pedigrees were evaluated genome-wide with an average inter-marker distance of 10 cM. An additional 58 pedigrees were used to more intensively investigate several genomic regions of interest. Genetic linkage analysis was performed with the ALLEGRO software using two model-based parametric analyses and a non-parametric analysis. Six genomic regions on chromosomes 2p23, 3p12, 3q26, 12p13-q21, 18q21-q23 and Xq27 showed heterogeneity LOD (HLOD) scores of greater than 1, with a maximum HLOD of 1.94 at 3q26. Genome-wide simulation studies indicate that the observed number of HLOD peaks greater than one does not differ significantly from that expected by chance. A TGCT locus at Xq27 has been previously reported. Of the 237 pedigrees examined in this study, 66 were previously unstudied at Xq27, no evidence for linkage to this region was observed in this new pedigree set. Overall, the results indicate that no single major locus can account for the majority of the familial aggregation of TGCT, and suggests that multiple susceptibility loci with weak effects contribute to the disease

Published
2017

25. Analysis of the DNDI gene in men with sporadic and familial testicular germ cell tumors

Author

Linger, Rachel, Dudakia, Darshna, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A. S., Lohynska, Radka, Daugaard, Gedske, Richard, Stephane, Chompret, Agnes, Stoppa-Lyonnet, Dominique, Bonaiti-Pellie, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Daly, Peter A., Guilford, Parry, Fossi, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Einhorn, Lawrence, McMaster, Mary, Korde, Larissa, Greene, Mark H., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., Rapley, Elizabeth A., and University of Groningen

Subjects
RISK, TER MUTATION, DEAD-END, SENSITIVE GEL-ELECTROPHORESIS, SUSCEPTIBILITY, TERATOMAS, CANCER
Abstract

A base substitution in the mouse DndI gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DNDI and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DNDI make, at most, a very small contribution to TGCT susceptibility in adults and adolescents. (c) 2007 Wiley-Liss, Inc.

Published
2008

26. Etude clinique de mutations germinales du gène PTCH dans une série de 22 malades atteints du Syndrome de Gorlin

Author

GORRY, Philippe, PRUVOST-BALLAND, Christelle, BOUTET, Nathalie, MAGNALDO, Thierry, MAMELLE, G, MARGULIS, A., KOLB, F., DUVILLARD, P., SPATZ, A., BRUGIERES, Laurence, CHOMPRET, Agnes, AVRIL, Marie-Francoise, GORRY, Philippe, Groupe de Recherche en Economie Théorique et Appliquée (GREThA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Service de Dermatologie, Hôpital Saint Louis, AP-HP, Paris, Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Département de cancérologie cervico-faciale [Gustave Roussy] (CCF), Institut Gustave Roussy (IGR), Département de biologie et pathologie médicales [Gustave Roussy], Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Département de médecine oncologique [Gustave Roussy], and Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract

International audience; ntroductionLa naevomatose basocellulaire ou syndrome des hamartomes basocellulaires est une génodermatose de transmission autosomique dominante caractérisée par des anomalies du développement et une prédisposition aux cancers. Le gène PTCH 1, localisé en 9q22.3 est le gène responsable de la naevomatose basocellulaire. L'objectif de ce travail était de rapporter les caractéristiques cliniques et génétiques des malades suivis pour une naevomatose basocellulaire et de les comparer aux données de la littérature.Malades et méthodesUne recherche de mutation du gène PTCH 1 a été réalisée chez 22 malades suivis entre 1981 et 2003 pour suspicion clinique de naevomatose basocellulaire. Les données cliniques et radiologiques étaient recueillies rétrospectivement dans les dossiers. L'analyse génétique était réalisée sur un échantillon de sang après signature d'un consentement éclairé par le malade. Si une anomalie du gène PTCH 1 était identifiée, l'analyse était également réalisée pour les membres de la famille qui l'acceptaient.RésultatsTous les malades avaient des hamartomes basocellulaires, 45 p. 100 des puits palmo-plantaires, 62 p. 100 des kystes odontogéniques et 66 p. 100 une calcification de la faux du cerveau. Les médulloblastomes et les méningiomes étaient les tumeurs associées les plus fréquentes. Treize malades avaient une mutation : 6 avaient une forme familiale, 3 une forme sporadique et pour 4 malades, il n'était pas possible de conclure. Neuf nouvelles mutations germinales distinctes ont été trouvées.DiscussionL'analyse génétique apporte une confirmation moléculaire du diagnostic chez la moitié des malades environ. Il est souhaitable de dépister les anomalies cliniques et radiologiques chez les sujets jeunes, afin d'apporter des conseils de prévention notamment en terme de photoprotection.

Published
2006

27. Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene

Author

Bougeard, Gaëlle, Brugieres, Laurence, Chompret, Agnes, Gesta, Paul, Charbonnier, Francoise, Valent, Alexander, Martin, Cosette, Raux, Grégory, Feunteun, Jean, Bressac-De Paillerets, Brigitte, Frébourg, Thierry, Paillerets, Brigitte Bressac-De, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), CHG Niort, Département de biologie et pathologie médicales [Gustave Roussy], Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Normandie Université (NU), Génétique oncologique (GO - UMR 8125), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), and Laboratoire de Diagnostic Moléculaire, Département de Biologie Clinique

Subjects
Male, MESH: DNA Primers, Cancer Research, MESH: Sequence Analysis, DNA, endocrine system diseases, Sequence analysis, MESH: Pedigree, MESH: Genes, p53, Alu element, Locus (genetics), Biology, Germline, Li-Fraumeni Syndrome, 03 medical and health sciences, Exon, 0302 clinical medicine, stomatognathic system, Genetics, medicine, Humans, Genetic Predisposition to Disease, MESH: Li-Fraumeni Syndrome, Molecular Biology, Gene, neoplasms, DNA Primers, 030304 developmental biology, 0303 health sciences, MESH: Humans, MESH: Genetic Predisposition to Disease, Sarcoma, Sequence Analysis, DNA, Gene rearrangement, Genes, p53, medicine.disease, Molecular biology, MESH: Male, Pedigree, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Li–Fraumeni syndrome, MESH: Gene Deletion, 030220 oncology & carcinogenesis, MESH: Sarcoma, Female, MESH: Female, Gene Deletion
Abstract

International audience; The absence of detectable germline TP53 mutations in a fraction of families with Li-Fraumeni syndrome (LFS) has suggested the involvement of other genes, but this hypothesis remains controversial. The density of Alu repeats within the TP53 gene led us to search genomic rearrangements of TP53 in families without detectable TP53 mutation. To this aim, we adapted the quantitative multiplex PCR of short fluorescent fragments (QMPSF) method to the analysis of the 11 exons of TP53. We analysed 98 families, either fulfilling (six families) or partially meeting (92 families) the criteria for LFS, and in which classical methods had failed to reveal TP53 alterations. We identified, in a large family fulfilling the criteria for LFS, a complete heterozygous deletion of TP53. Additional QMPSF analyses indicated that this deletion, which partially removed the centromeric FLJ10385 locus, covered approximately 45 kb. This deletion was shown to result from a complex rearrangement involving two distinct Alu-mediated recombinations. We conclude that TP53 germline rearrangements occur as rare events, but must be considered in LFS families without detectable point TP53 mutation.

Published
2003
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29. Analysis of theDND1 gene in men with sporadic and familial testicular germ cell tumors

Author

Linger, Rachel, primary, Dudakia, Darshna, additional, Huddart, Robert, additional, Tucker, Kathy, additional, Friedlander, Michael, additional, Phillips, Kelly-Anne, additional, Hogg, David, additional, Jewett, Michael A. S., additional, Lohynska, Radka, additional, Daugaard, Gedske, additional, Richard, Stéphane, additional, Chompret, Agnes, additional, Stoppa-Lyonnet, Dominique, additional, Bonaïti-Pellié, Catherine, additional, Heidenreich, Axel, additional, Albers, Peter, additional, Olah, Edith, additional, Geczi, Lajos, additional, Bodrogi, Istvan, additional, Daly, Peter A., additional, Guilford, Parry, additional, Fosså, Sophie D., additional, Heimdal, Ketil, additional, Tjulandin, Sergei A., additional, Liubchenko, Ludmila, additional, Stoll, Hans, additional, Weber, Walter, additional, Einhorn, Lawrence, additional, McMaster, Mary, additional, Korde, Larissa, additional, Greene, Mark H., additional, Nathanson, Katherine L., additional, Cortessis, Victoria, additional, Easton, Douglas F., additional, Bishop, D. Timothy, additional, Stratton, Michael R., additional, and Rapley, Elizabeth A., additional

Published
2008
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30. Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

Author

Pasini, Barbara, primary, McWhinney, Sarah R, additional, Bei, Thalia, additional, Matyakhina, Ludmila, additional, Stergiopoulos, Sotirios, additional, Muchow, Michael, additional, Boikos, Sosipatros A, additional, Ferrando, Barbara, additional, Pacak, Karel, additional, Assie, Guillaume, additional, Baudin, Eric, additional, Chompret, Agnes, additional, Ellison, Jay W, additional, Briere, Jean-Jacques, additional, Rustin, Pierre, additional, Gimenez-Roqueplo, Anne-Paule, additional, Eng, Charis, additional, Carney, J Aidan, additional, and Stratakis, Constantine A, additional

Published
2007
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31. Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Author

Goldstein, Alisa M., primary, Chaudru, Valerie, additional, Ghiorzo, Paola, additional, Badenas, Celia, additional, Malvehy, Josep, additional, Pastorino, Lorenza, additional, Laud, Karine, additional, Hulley, Benjamin, additional, Avril, Marie-Francoise, additional, Puig-Butille, Joan A., additional, Miniere, Annie, additional, Marti, Rosa, additional, Chompret, Agnes, additional, Cuellar, Francisco, additional, Kolm, Isabel, additional, Mila, Montserrat, additional, Tucker, Margaret A., additional, Demenais, Florence, additional, Bianchi-Scarra, Giovanna, additional, Puig, Susana, additional, and de-Paillerets, Brigitte Bressac, additional

Published
2007
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32. A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

Author

Yakobson, Emanuel, primary, Eisenberg, Shlomit, additional, Isacson, Ruth, additional, Halle, David, additional, Levy-Lahad, Efrat, additional, Catane, Raphael, additional, Safro, Mark, additional, Sobolev, Vladimir, additional, Huot, Thomas, additional, Peters, Gordon, additional, Ruiz, Anna, additional, Malvehy, Josep, additional, Puig, Suzana, additional, Chompret, Agnes, additional, Avril, Marie-Fracoise, additional, Shafir, Raphael, additional, Peretz, Hava, additional, and Paillerets, Brigitte Bressac-de, additional

Published
2003
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34. Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Author

Pasini, Barbara, McWhinney, Sarah R., Bei, Thalia, Matyakhina, Ludmila, Stergiopoulos, Sotirios, Muchow, Michael, Boikos, Sosipatros A., Ferrando, Barbara, Pacak, Karel, Assie, Guillaume, Baudin, Eric, Chompret, Agnes, Ellison, Jay W., Briere, Jean-Jacques, Rustin, Pierre, Gimenez-Roqueplo, Anne-Paule, Eng, Charis, Carney, J. Aidan, and Stratakis, Constantine A.

Subjects
GASTROINTESTINAL stromal tumors, GERM cells, GENETIC mutation, GENES, IMATINIB, METHANESULFONATES, SUCCINATE dehydrogenase
Abstract

Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-α (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not all GISTs harbor these genetic defects and several do not respond to STI571 suggesting that other molecular mechanisms may be implicated in GIST pathogenesis. In a subset of patients with GISTs, the lesions are associated with paragangliomas; the condition is familial and transmitted as an autosomal-dominant trait. We investigated 11 patients with the dyad of ‘paraganglioma and gastric stromal sarcoma’; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively). In this report, we present the molecular effects of these mutations on these genes and the clinical information on the patients. We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs.European Journal of Human Genetics (2008) 16, 79–88; doi:10.1038/sj.ejhg.5201904; published online 1 August 2007 [ABSTRACT FROM AUTHOR]

Published
2008
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35. Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

Author

Crockford, Gillian P., Linger, Rachel, Hockley, Sarah, Dudakia, Darshna, Johnson, Lola, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stéphane, Chompret, Agnes, Bonaïti-Pellié, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Guilford, Parry, Fosså, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Forman, David, Oliver, Timothy, Einhorn, Lawrence, McMaster, Mary, Kramer, Joan, Greene, Mark H., Weber, Barbara L., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., Rapley, Elizabeth A., Crockford, Gillian P., Linger, Rachel, Hockley, Sarah, Dudakia, Darshna, Johnson, Lola, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stéphane, Chompret, Agnes, Bonaïti-Pellié, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Guilford, Parry, Fosså, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Forman, David, Oliver, Timothy, Einhorn, Lawrence, McMaster, Mary, Kramer, Joan, Greene, Mark H., Weber, Barbara L., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., and Rapley, Elizabeth A.

Abstract

A family history of disease is a strong risk factor for testicular germ cell tumour (TGCT). In order to identify the location of putative TGCT susceptibility gene(s) we conducted a linkage search in 237 pedigrees with two or more cases of TGCT. One hundred and seventy-nine pedigrees were evaluated genome-wide with an average inter-marker distance of 10 cM. An additional 58 pedigrees were used to more intensively investigate several genomic regions of interest. Genetic linkage analysis was performed with the ALLEGRO software using two model-based parametric analyses and a non-parametric analysis. Six genomic regions on chromosomes 2p23, 3p12, 3q26, 12p13-q21, 18q21-q23 and Xq27 showed heterogeneity LOD (HLOD) scores of greater than 1, with a maximum HLOD of 1.94 at 3q26. Genome-wide simulation studies indicate that the observed number of HLOD peaks greater than one does not differ significantly from that expected by chance. A TGCT locus at Xq27 has been previously reported. Of the 237 pedigrees examined in this study, 66 were previously unstudied at Xq27, no evidence for linkage to this region was observed in this new pedigree set. Overall, the results indicate that no single major locus can account for the majority of the familial aggregation of TGCT, and suggests that multiple susceptibility loci with weak effects contribute to the disease

37. Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.

Author

Linger R, Dudakia D, Huddart R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Stoppa-Lyonnet D, Bonaïti-Pellié C, Heidenreich A, Albers P, Olah E, Geczi L, Bodrogi I, Daly PA, Guilford P, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L, Stoll H, Weber W, Einhorn L, McMaster M, Korde L, Greene MH, Nathanson KL, Cortessis V, Easton DF, Bishop DT, Stratton MR, and Rapley EA

Subjects
DNA Mutational Analysis, Family Health, Genetic Predisposition to Disease, Humans, Male, Mutation, Neoplasms, Germ Cell and Embryonal etiology, Polymerase Chain Reaction, Testicular Neoplasms etiology, Neoplasm Proteins genetics, Neoplasms, Germ Cell and Embryonal genetics, Testicular Neoplasms genetics
Abstract

A base substitution in the mouse Dnd1 gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DND1 and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents., ((c) 2007 Wiley-Liss, Inc.)

Published
2008
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