Search Results - "Chompret, Agnes"

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    The Li–Fraumeni syndrome by Chompret, Agnès

    Published in Biochimie (2002)
    “…Li–Fraumeni syndrome (LFS) has been the most common terminology used for the syndrome. It is a rare familial dominantly inherited cancer syndrome characterized…”
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    Genetic and environmental factors in cutaneous malignant melanoma by Bressac-de-Paillerets, Brigitte, Avril, Marie-Françoise, Chompret, Agnès, Demenais, Florence

    Published in Biochimie (2002)
    “…Cutaneous malignant melanoma (CMM) is an interesting example of multifactorial disease, where both genetic and environmental factors are involved and interact…”
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    Oncogenetic consultation for breast cancer by Chompret, Agnès, Noguès, Catherine, Stoppa-Lyonnet, Dominique

    Published in La Presse médicale (1983) (01-02-2007)
    “…Five percent of breast cancers are associated with a genetic predisposition, transmitted as an autosomal dominant trait of either maternal or paternal origin…”
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    Patterns of familial aggregation of three melanoma risk factors: great number of naevi, light phototype and high degree of sun exposure by Briollais, Laurent, Chompret, Agnès, Guilloud-Bataille, Michel, Bressac-de Paillerets, Brigitte, Avril, Marie-Françoise, Demenais, Florence

    Published in International journal of epidemiology (01-06-2000)
    “…Background Besides melanoma susceptibility genes and shared environmental exposures, part of the familial clustering of cutaneous malignant melanoma (CMM)…”
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    Melanocortin-1 Receptor (MC1R) Gene Variants and Dysplastic Nevi Modify Penetrance of CDKN2A Mutations in French Melanoma-Prone Pedigrees by CHAUDRU, Valérie, LAUD, Karine, AVRIL, Marie-Francoise, MINIERE, Annie, CHOMPRET, Agnès, BRESSAC-DE PAILLERETS, Brigitte, DEMENAIS, Florence

    “…Germline mutations in CDKN2A gene predispose to melanoma with high but incomplete penetrance. Penetrance of CDKN2A gene was found to be significantly…”
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    Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations by Brugières, Laurence, Pierron, Gaëlle, Chompret, Agnès, Paillerets, Brigitte Bressac-de, Di Rocco, Federico, Varlet, Pascale, Pierre-Kahn, Alain, Caron, Olivier, Grill, Jacques, Delattre, Olivier

    Published in Journal of medical genetics (01-02-2010)
    “…Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in…”
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    Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families by Chaudru, Valérie, Chompret, Agnès, Bressac-de Paillerets, Brigitte, Spatz, Alain, Avril, Marie-Françoise, Demenais, Florence

    “…Background: Few family studies have investigated the effects of genetic, environmental, and host factors on melanoma risk, and most have been restricted to…”
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    Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene by BOUGEARD, Gaëlle, BRUGIERES, Laurence, FREBOURG, Thierry, CHOMPRET, Agnès, GESTA, Paul, CHARBONNIER, Francoise, VALENT, Alexander, MARTIN, Cosette, RAUX, Grégory, FEUNTEUN, Jean, BRESSAC-DE PAILLERETS, Brigitte

    Published in Oncogene (13-02-2003)
    “…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…”
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    Radiation and genetic factors in the risk of second malignant neoplasms after a first cancer in childhood by Kony, S J, de Vathaire, F, Chompret, A, Shamsaldim, A, Grimaud, E, Raquin, M A, Oberlin, O, Brugières, L, Feunteun, J, Eschwège, F, Chavaudra, J, Lemerle, J, Bonaïti-Pellié, C

    Published in The Lancet (British edition) (12-07-1997)
    “…Radiotherapy and chemotherapy are associated with an increased risk of second malignant neoplasm (SMN). An association between SMN and familial aggregation has…”
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