AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer

Authors: Leclerc, Julie, Beaumont, Marie, Vibert, Roseline, Pinson, Stéphane, Vermaut, Catherine, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Demay, Christophe, Coulet, Florence, Guillerm, Erell, Hamzaoui, Nadim, Benusiglio, Patrick R., Brahimi, Afane, Cornelis, François, Delhomelle, Hélène, Fert‐Ferrer, Sandra, Fournier, Benjamin P. J., Hovnanian, Alain, Legrand, Clémentine, Lortholary, Alain, Malka, David, Petit, Florence, Saurin, Jean‐Christophe, Lejeune, Sophie, Colas, Chrystelle, Buisine, Marie‐Pierre

Source: Genes, chromosomes & cancer. 62(4):210-222

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173644539.0x000001&indx=1&recIds=ETOCvdc_100173644539.0x000001

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation

Authors: Leclerc, Julie, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Ait Yahya, Emilie, Baert-Desurmont, Stéphanie, Burnichon, Nelly, Bronner, Myriam, Cabaret, Odile, Lejeune, Sophie, Guimbaud, Rosine, Morin, Gilles, Mauillon, Jacques, Jonveaux, Philippe, Laurent-Puig, Pierre, Frébourg, Thierry, Porchet, Nicole, Buisine, Marie-Pierre

Source: In Genetics in Medicine December 2018 20(12):1589-1599

Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene

Authors: Passos, Jeremy, Quidet, Mathilde, Brahimi, Afane, Flament, Cathy, Gibier, Jean-Baptiste, Caron, Sabine, Maurage, Claude-Alain, Buisine, Marie-Pierre, Perbet, Romain

Source: Acta neuropathologica. 140(6):967-969

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186980473.0x000001&indx=1&recIds=ETOCvdc_100186980473.0x000001

Diversity of genetic events associated with MLH1promoter methylation in Lynch syndrome families with heritable constitutional epimutation

Authors: Leclerc, Julie, Flament, Cathy, Lovecchio, Tonio, Delattre, Lucie, Ait Yahya, Emilie, Baert-Desurmont, Stéphanie, Burnichon, Nelly, Bronner, Myriam, Cabaret, Odile, Lejeune, Sophie, Guimbaud, Rosine, Morin, Gilles, Mauillon, Jacques, Jonveaux, Philippe, Laurent-Puig, Pierre, Frébourg, Thierry, Porchet, Nicole, Buisine, Marie-Pierre

Source: Genetics in Medicine; December 2018, Vol. 20 Issue: 12 p1589-1599, 11p