Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Authors: Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R., Neuhausen, Susan L., Hopper, John L., Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T., Andrulis, Irene L., Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S., Caputo, Sandrine M., Chung, Wendy K., Colas, Chrystelle, Colonna, Sarah V., Cook, Jackie, Daly, Mary B., de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Fehm, Tanja N., Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E., Golmard, Lisa, Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M., Karlan, Beth Y., Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K., Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K., Senter, Leigha, Shariff, Saba, Singer, Christian F., Southey, Melissa C., Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Vega, Ana, Wagner, Sebastian A., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Spurdle, Amanda B., Easton, Douglas F., Chenevix-Trench, Georgia, Ottini, Laura, Antoniou, Antonis C.

Source: Journal of clinical oncology. 40(14):1529-1541

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Authors: Caputo, Sandrine M., Golmard, Lisa, Léone, Mélanie, Damiola, Francesca, Guillaud-Bataille, Marine, Revillion, Françoise, Rouleau, Etienne, Derive, Nicolas, Buisson, Adrien, Basset, Noémie, Schwartz, Mathias, Vilquin, Paul, Garrec, Celine, Privat, Maud, Gay-Bellile, Mathilde, Abadie, Caroline, Abidallah, Khadija, Airaud, Fabrice, Allary, Anne-Sophie, Barouk-Simonet, Emmanuelle, Belotti, Muriel, Benigni, Charlotte, Benusiglio, Patrick R., Berthemin, Christelle, Berthet, Pascaline, Bertrand, Ophelie, Bézieau, Stéphane, Bidart, Marie, Bignon, Yves-Jean, Birot, Anne-Marie, Blanluet, Maud, Bloucard, Amelie, Bombled, Johny, Bonadona, Valerie, Bonnet, Françoise, Bonnet-Dupeyron, Marie-Noëlle, Boulaire, Manon, Boulouard, Flavie, Bouras, Ahmed, Bourdon, Violaine, Brahimi, Afane, Brayotel, Fanny, Bressac de Paillerets, Brigitte, Bronnec, Noémie, Bubien, Virginie, Buecher, Bruno, Cabaret, Odile, Carriere, Jennifer, Chiesa, Jean, Chieze-Valéro, Stephanie, Cohen, Camille, Cohen-Haguenauer, Odile, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Conoy, Anne-Laure, Coulet, Florence, Coupier, Isabelle, Crivelli, Louise, Cusin, Véronica, De Pauw, Antoine, Dehainault, Catherine, Delhomelle, Hélène, Delnatte, Capucine, Demontety, Sophie, Denizeau, Philippe, Devulder, Pierre, Dreyfus, Helene, d’Enghein, Catherine Dubois, Dupré, Anaïs, Durlach, Anne, Dussart, Sophie, Fajac, Anne, Fekairi, Samira, Fert-Ferrer, Sandra, Fiévet, Alice, Fouillet, Robin, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Goldbarg, Veronica, Goussot, Vincent, Guibert, Virginie, Guillerm, Erell, Guy, Christophe, Hardouin, Agnès, Heude, Céline, Houdayer, Claude, Ingster, Olivier, Jacquot-Sawka, Caroline, Jones, Natalie, Krieger, Sophie, Lacoste, Sofiane, Lallaoui, Hakima, Larbre, Helene, Laugé, Anthony, Le Guyadec, Gabrielle, Le Mentec, Marine, Lecerf, Caroline, Le Gall, Jessica, Legendre, Bérengère, Legrand, Clémentine, Legros, Angélina, Lejeune, Sophie, Lidereau, Rosette, Lignon, Norbert, Limacher, Jean-Marc, Doriane Livon, Lizard, Sarab, Longy, Michel, Lortholary, Alain, Macquere, Pierre, Mailliez, Audrey, Malsa, Sarah, Margot, Henri, Mari, Véronique, Maugard, Christine, Meira, Cindy, Menjard, Julie, Molière, Diane, Moncoutier, Virginie, Moretta-Serra, Jessica, Muller, Etienne, Nevière, Zoe, Nguyen Minh Tuan, Thien-vu, Noguchi, Tetsuro, Noguès, Catherine, Oca, Florine, Popovici, Cornel, Prieur, Fabienne, Raad, Sabine, Rey, Jean-Marc, Ricou, Agathe, Salle, Lucie, Saule, Claire, Sevenet, Nicolas, Simaga, Fatoumata, Sobol, Hagay, Suybeng, Voreak, Tennevet, Isabelle, Tenreiro, Henrique, Tinat, Julie, Toulas, Christine, Turbiez, Isabelle, Uhrhammer, Nancy, Vande Perre, Pierre, Vaur, Dominique, Venat, Laurence, Viellard, Nicolas, Villy, Marie-Charlotte, Warcoin, Mathilde, Yvard, Alice, Zattara, Helene, Caron, Olivier, Lasset, Christine, Remenieras, Audrey, Boutry-Kryza, Nadia, Castéra, Laurent, Stoppa-Lyonnet, Dominique

Source: In The American Journal of Human Genetics 7 October 2021 108(10):1907-1923

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

Authors: Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d'Enghien, Catherine, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

Source: Breast cancer research. 20(1):1-18

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161860999.0x000001&indx=1&recIds=ETOCvdc_100161860999.0x000001

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

Authors: Renault, Anne-Laure, Mebirouk, Noura, Cavaciuti, Eve, Le Gal, Dorothée, Lecarpentier, Julie, d Enghien, Catherine Dubois, Laugé, Anthony, Dondon, Marie-Gabrielle, Labbé, Martine, Lesca, Gaetan

Source: Carcinogenesis. 38(10):994-1003

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN620721199&indx=1&recIds=ETOCRN620721199

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Authors: Micol, Romain, Ben Slama, Lilia, Suarez, Felipe, Le Mignot, Loïc, Beauté, Julien, Mahlaoui, Nizar, Dubois d’Enghien, Catherine, Laugé, Anthony, Hall, Janet, Couturier, Jérôme, Vallée, Louis, Delobel, Bruno, Rivier, François, Nguyen, Karine, Billette de Villemeur, Thierry, Stephan, Jean-Louis, Bordigoni, Pierre, Bertrand, Yves, Aladjidi, Nathalie, Pedespan, Jean-Michel, Thomas, Caroline, Pellier, Isabelle, Koenig, Michel, Hermine, Olivier, Picard, Capucine, Moshous, Despina, Neven, Bénédicte, Lanternier, Fanny, Blanche, Stéphane, Tardieu, Marc, Debré, Marianne, Fischer, Alain, Stoppa-Lyonnet, Dominique

Source: In The Journal of Allergy and Clinical Immunology March 2011

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.

Authors: Jiao, Yue, Lesueur, Fabienne, Azencott, Chloé-Agathe, Laurent, Maïté, Mebirouk, Noura, Laborde, Lilian, Beauvallet, Juana, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Laugé, Anthony, GEMO Study Collaborators, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy

Source: BMC Medical Research Methodology; 7/29/2021, Vol. 21 Issue 1, p1-11, 11p

Subject Terms: SUPERVISED learning, BRCA genes, DISEASE risk factors, SUPPORT vector machines, ALGORITHMS, MEDICAL registries

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Contribution of germline deleterious variants in the RAD51paralogs to breast and ovarian cancers

Authors: Golmard, Lisa, Castéra, Laurent, Krieger, Sophie, Moncoutier, Virginie, Abidallah, Khadija, Tenreiro, Henrique, Laugé, Anthony, Tarabeux, Julien, Millot, Gael, Nicolas, André, Laé, Marick, Abadie, Caroline, Berthet, Pascaline, Polycarpe, Florence, Frébourg, Thierry, Elan, Camille, Pauw, Antoine, Gauthier-Villars, Marion, Buecher, Bruno, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Houdayer, Claude

Source: European Journal of Human Genetics: EJHG; December 2017, Vol. 25 Issue: 12 p1345-1353, 9p

Pros and cons of HaloPlex enrichment in cancer predisposition genetic diagnosis.

Authors: Collet, Agnès, Tarabeux, Julien, Dubois D'Enghien, Catherine, Laugé, Anthony, Moncoutier, Virginie, Lefol, Cédrick, Copigny, Florence, Dehainault, Catherine, Tenreiro, Henrique, Guy, Christophe, Abidallah, Khadija, Barbaroux, Catherine, Rouleau, Etienne, De Pauw, Antoine, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Girard, Elodie, Deshaies, Vivien, Lermine, Alban

Source: AIMS Genetics; 2015, Vol. 2 Issue 4, p263-280, 18p

Subject Terms: CANCER diagnosis, DISEASE susceptibility, GENETIC code, GENETICS

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Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Authors: Jacquemin, Virginie, Rieunier, Guillaume, Jacob, Sandrine, Bellanger, Dorine, d'Enghien, Catherine Dubois, Laugé, Anthony, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

Source: European Journal of Human Genetics; Mar2012, Vol. 20 Issue 3, p305-312, 8p, 2 Charts, 3 Graphs

Subject Terms: GENE expression, ATAXIA telangiectasia, GENETIC disorders, GENETIC mutation, CELL culture

ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

Authors: Paglia, Laura, Laugé, Anthony, Weber, Jérémie, Champ, Jérôme, Cavaciuti, Eve, Russo, Antonio, Viovy, Jean-Louis, Stoppa-Lyonnet, Dominique

Source: Breast Cancer Research & Treatment; Feb2010, Vol. 119 Issue 2, p443-452, 10p