Works matching AU Berthet, Pascaline

Results: 32

Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France.

Published in:

2019

By:

Gauna Cristaldo, Fatima Belén;
Touzani, Rajae;
Apostolidis, Thémis;
Mouret‐Fourme, Emmanuelle;
Stoppa‐Lyonnet, Dominique;
Lasset, Christine;
Fricker, Jean‐Pierre;
Berthet, Pascaline;
Julian‐Reynier, Claire;
Mancini, Julien;
Noguès, Catherine;
Bouhnik, Anne‐Déborah;
Mouret-Fourme, Emmanuelle;
Stoppa-Lyonnet, Dominique;
Fricker, Jean-Pierre;
Julian-Reynier, Claire;
Bouhnik, Anne-Déborah

Publication type:

journal article

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1305, doi. 10.1038/ejhg.2014.16

By:

Castéra, Laurent;
Krieger, Sophie;
Rousselin, Antoine;
Legros, Angélina;
Baumann, Jean-Jacques;
Bruet, Olivia;
Brault, Baptiste;
Fouillet, Robin;
Goardon, Nicolas;
Letac, Olivier;
Baert-Desurmont, Stéphanie;
Tinat, Julie;
Bera, Odile;
Dugast, Catherine;
Berthet, Pascaline;
Polycarpe, Florence;
Layet, Valérie;
Hardouin, Agnes;
Frébourg, Thierry;
Vaur, Dominique

Publication type:

Article

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1052, doi. 10.1038/ejhg.2011.100

By:

Théry, Jean Christophe;
Krieger, Sophie;
Gaildrat, Pascaline;
Révillion, Françoise;
Buisine, Marie-Pierre;
Killian, Audrey;
Duponchel, Christiane;
Rousselin, Antoine;
Vaur, Dominique;
Peyrat, Jean-Philippe;
Berthet, Pascaline;
Frébourg, Thierry;
Martins, Alexandra;
Hardouin, Agnès;
Tosi, Mario

Publication type:

Article

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 494, doi. 10.1038/ejhg.2010.227

By:

Dorval, Michel;
Noguès, Catherine;
Berthet, Pascaline;
Chiquette, Jocelyne;
Gauthier-Villars, Marion;
Lasset, Christine;
Picard, Claude;
Plante, Marie;
Simard, Jacques;
Julian-Reynier, Claire

Publication type:

Article

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 500, doi. 10.1038/ejhg.2010.241

By:

Julian-Reynier, Claire;
Mancini, Julien;
Mouret-Fourme, Emmanuelle;
Gauthier-Villars, Marion;
Bonadona, Valérie;
Berthet, Pascaline;
Fricker, Jean-Pierre;
Caron, Olivier;
Luporsi, Elisabeth;
Noguès, Catherine

Publication type:

Article

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.

Published in:

2008

By:

Lesueur, F;
de Lichy, M;
Barrois, M;
Durand, G;
Bombled, J;
Avril, M-F;
Chompret, A;
Boitier, F;
Lenoir, G M;
Bressac-de Paillerets, B;
French Familial Melanoma Study Group;
Baccard, Monique;
Bachollet, Bertrand;
Berthet, Pascaline;
Bonadona, Valérie;
Bonnetblanc, Jean-Marie;
Caron, Olivier;
Chevrant-Breton, Jacqueline;
Cuny, Jean-François;
Dalle, Stéphane

Publication type:

journal article

Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing.

Published in:

Psychology, Health & Medicine, 2020, v. 25, n. 6, p. 756, doi. 10.1080/13548506.2019.1659981

By:

Troïan, Jaïs;
Apostolidis, Thémis;
Touzani, Rajae;
Mouret-Fourme, Emmanuelle;
Stoppa-Lyonnet, Dominique;
Lasset, Christine;
Berthet, Pascaline;
Julian-Reynier, Claire;
Mancini, Julien;
Noguès, Catherine;
Bouhnik, Anne-Déborah

Publication type:

Article

Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?

Published in:

Psycho-Oncology, 2014, v. 23, n. 4, p. 420, doi. 10.1002/pon.3435

By:

Maheu, Christine;
Bouhnik, Anne‐Deborah;
Nogues, Catherine;
Mouret‐Fourme, Emmanuelle;
Stoppa‐Lyonnet, Dominique;
Lasset, Christine;
Berthet, Pascaline;
Fricker, Jean‐Pierre;
Caron, Olivier;
Luporsi, Elizabeth;
Gladieff, Laurence;
Julian‐Reynier, Claire

Publication type:

Article

How and when to refer patients for oncogenetic counseling in the era of PARP inhibitors.

Published in:

Therapeutic Advances in Medical Oncology, 2020, v. 12, p. 1, doi. 10.1177/1758835919897530

By:

Neviere, Zoé;
De La Motte Rouge, Thibault;
Floquet, Anne;
Johnson, Alison;
Berthet, Pascaline;
Joly, Florence

Publication type:

Article

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Published in:

Breast Cancer Research & Treatment, 2017, v. 161, n. 1, p. 117, doi. 10.1007/s10549-016-4018-2

By:

Hamdi, Yosr;
Soucy, Penny;
Kuchenbaeker, Karoline;
Pastinen, Tomi;
Droit, Arnaud;
Lemaçon, Audrey;
Adlard, Julian;
Aittomäki, Kristiina;
Andrulis, Irene;
Arason, Adalgeir;
Arnold, Norbert;
Arun, Banu;
Azzollini, Jacopo;
Bane, Anita;
Barjhoux, Laure;
Barrowdale, Daniel;
Benitez, Javier;
Berthet, Pascaline;
Blok, Marinus;
Bobolis, Kristie

Publication type:

Article

Mutation analysis of PALB2 gene in French breast cancer families.

Published in:

Breast Cancer Research & Treatment, 2015, v. 154, n. 3, p. 463, doi. 10.1007/s10549-015-3625-7

By:

Damiola, Francesca;
Schultz, Inès;
Barjhoux, Laure;
Sornin, Valérie;
Dondon, Marie-Gabrielle;
Eon-Marchais, Séverine;
Marcou, Morgane;
Caron, Olivier;
Gauthier-Villars, Marion;
Pauw, Antoine;
Luporsi, Elisabeth;
Berthet, Pascaline;
Delnatte, Capucine;
Bonadona, Valérie;
Maugard, Christine;
Pujol, Pascal;
Lasset, Christine;
Longy, Michel;
Bignon, Yves-Jean;
Fricker, Jean-Pierre

Publication type:

Article

Two novel variants in the 3′UTR of the BRCA1 gene in familial breast and/or ovarian cancer.

Published in:

2011

By:

Lheureux, Stéphanie;
Lambert, Bernard;
Krieger, Sophie;
Legros, Angelina;
Vaur, Dominique;
Denoyelle, Christophe;
Berthet, Pascaline;
Poulain, Laurent;
Hardouin, Agnès

Publication type:

Report

Risk of second primary cancer following differentiated thyroid cancer.

Published in:

European Journal of Nuclear Medicine & Molecular Imaging, 2004, v. 31, n. 5, p. 685, doi. 10.1007/s00259-003-1448-y

By:

Berthe, Emmanuelle;
Henry-Amar, Michel;
Michels, Jean-Jacques;
Rame, Jean-Pierre;
Berthet, Pascaline;
Babin, Emmanuel;
Icard, Philippe;
Samama, Guy;
Galateau-Sallé, Françoise;
Mahoudeau, Jacques;
Bardet, Stéphane

Publication type:

Article

Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.

Published in:

International Journal of Cancer, 2005, v. 117, n. 2, p. 230, doi. 10.1002/ijc.21176

By:

Hughes, David J.;
Ginolhac, Sophie M.;
Coupier, Isabelle;
Barjhoux, Laure;
Gaborieau, Valérie;
Bressac-de-Paillerets, Brigitte;
Chompret, Agnès;
Bignon, Yves-Jean;
Uhrhammer, Nancy;
Lasset, Christine;
Giraud, Sophie;
Sobol, Hagay;
Hardouin, Agnès;
Berthet, Pascaline;
Peyrat, Jean-Philippe;
Fournier, Joelle;
Nogues, Catherine;
Lidereau, Rosette;
Muller, Danièle;
Fricker, Jean-Pierre

Publication type:

Article

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome.

Published in:

JAMA: Journal of the American Medical Association, 2011, v. 305, n. 22, p. 2304, doi. 10.1001/jama.2011.743

By:

Bonadona, Valérie;
Bonaïti, Bernard;
Olschwng, Sylviane;
Grandjouan, Sophie;
Huiart, Laetitia;
Longy, Michel;
Guimbaud, Rosine;
Buecher, Bruno;
Bignon, Yves-Jean;
Caron, Olivier;
Colas, Chrystelle;
Noguès, Catherine;
Lejeune-Dumoulin, Sophie;
Olivier-Faivre, Laurence;
Polycarpe-Osaer, Florence;
Tan Dat Nguyen;
Desseigne, Françoise;
Saurin, Jean-Christophe;
Berthet, Pascaline;
Leroux, Dominique

Publication type:

Article

A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 154, doi. 10.1002/1098-1004(200102)17:2<154::AID-HUMU12>3.0.CO;2-O

By:

Hardouin, Agnès;
Baumann, Jean-Jacques;
Roussel, Gilbert;
Quillien, Véronique;
Dugast, Catherine;
Berthet, Pascaline

Publication type:

Article

Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics.

Published in:

Familial Cancer, 2018, v. 17, n. 3, p. 451, doi. 10.1007/s10689-017-0049-z

By:

Collet, Gaëlle;
Parodi, Nathalie;
Cassinari, Kevin;
Neviere, Zoe;
Cohen, Fanny;
Gasnier, Céline;
Brahimi, Afane;
Lecoquierre, François;
Thery, Jean-Christophe;
Tennevet, Isabelle;
Lacaze, Elodie;
Berthet, Pascaline;
Frebourg, Thierry

Publication type:

Article

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.

Published in:

Familial Cancer, 2017, v. 16, n. 2, p. 167, doi. 10.1007/s10689-016-9940-2

By:

Jamard, Estelle;
Volard, Bertrand;
Dugué, Audrey;
Legros, Angelina;
Leconte, Alexandra;
Clarisse, Bénédicte;
Davy, Grégoire;
Polycarpe, Florence;
Dugast, Catherine;
Abadie, Caroline;
Frebourg, Thierry;
Tinat, Julie;
Tennevet, Isabelle;
Layet, Valérie;
Joly, Florence;
Castéra, Laurent;
Berthet, Pascaline;
Vaur, Dominique;
Krieger, Sophie

Publication type:

Article

Uptake of a randomized breast cancer prevention trial comparing letrozole to placebo in BRCA1/ 2 mutations carriers: the LIBER trial.

Published in:

Familial Cancer, 2012, v. 11, n. 1, p. 77, doi. 10.1007/s10689-011-9484-4

By:

Pujol, Pascal;
Lasset, Christine;
Berthet, Pascaline;
Dugast, Catherine;
Delaloge, Suzette;
Fricker, Jean-Pierre;
Tennevet, Isabelle;
Chabbert-Buffet, Nathalie;
This, Pascale;
Baudry, Karen;
Lemonnier, Jerome;
Roca, Lise;
Mijonnet, Sylvie;
Gesta, Paul;
Chiesa, Jean;
Dreyfus, Helene;
Vennin, Philippe;
Delnatte, Capucine;
Bignon, Yves;
Lortholary, Alain

Publication type:

Article

Intravenous leiomyomatosis of the uterus: a GnRH agonist utilisation before surgery.

Published in:

Journal of Obstetrics & Gynaecology, 1998, v. 18, n. 5, p. 492, doi. 10.1080/01443619866912

By:

Barjot, P. J.;
Refahi, N.;
Berthet, Pascaline;
Delautre, V. D.

Publication type:

Article

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.

Published in:

Cancers, 2025, v. 17, n. 7, p. 1062, doi. 10.3390/cancers17071062

By:

Ribeiro-Guerra, Maximiliano;
Dondon, Marie-Gabrielle;
Eon-Marchais, Séverine;
Le Gal, Dorothée;
Beauvallet, Juana;
Mebirouk, Noura;
Belotti, Muriel;
Cavaciuti, Eve;
Adenis-Lavignasse, Claude;
Audebert-Bellanger, Séverine;
Berthet, Pascaline;
Bonadona, Valérie;
Buecher, Bruno;
Caron, Olivier;
Cavaille, Mathias;
Chiesa, Jean;
Colas, Chrystelle;
Coupier, Isabelle;
Delnatte, Capucine;
Dreyfus, Hélène

Publication type:

Article

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Published in:

2012

By:

Lecarpentier, Julie;
Noguès, Catherine;
Mouret-Fourme, Emmanuelle;
Gauthier-Villars, Marion;
Lasset, Christine;
Fricker, Jean-Pierre;
Caron, Olivier;
Stoppa-Lyonnet, Dominique;
Berthet, Pascaline;
Faivre, Laurence;
Bonadona, Valérie;
Buecher, Bruno;
Coupier, Isabelle;
Gladieff, Laurence;
Gesta, Paul;
Eisinger, François;
Frénay, Marc;
Luporsi, Elisabeth;
Lortholary, Alain;
Colas, Chrystelle

Publication type:

journal article

EPAS1‐mutated paragangliomas associated with haemoglobin disorders.

Published in:

British Journal of Haematology, 2024, v. 204, n. 3, p. 1054, doi. 10.1111/bjh.19278

By:

Mancini, Maxence;
Buffet, Alexandre;
Porte, Baptiste;
Amar, Laurence;
Lussey‐Lepoutre, Charlotte;
Crinière, Lise;
Baudin, Eric;
Meatchi, Tchao;
Gimenez‐Roqueplo, Anne‐Paule;
Favier, Judith;
Burnichon, Nelly;
Ajzenberg, Christiane;
Barraud, Sara;
Berthet, Pascaline;
Bricaire, Léopoldine;
Chabre, Olivier;
Droumaguet, Céline;
Fasciglione, Elsa;
Groussin, Lionel;
Guilhem, Isabelle

Publication type:

Article

Patients’ characteristics and rate of Internet use to obtain cancer information.

Published in:

Journal of Public Health, 2006, v. 28, n. 3, p. 235, doi. 10.1093/pubmed/fdl019

By:

Mancini, Julien;
Noguès, Catherine;
Adenis, Claude;
Berthet, Pascaline;
Bonadona, Val&#00E9;rie;
Chompret, Agn&#00E8;s;
Coupier, Isabelle;
Eisinger, Fran&#00E7;ois;
Fricker, Jean-Pierre;
Gauthier-Villars, Marion;
Lasset, Christine;
Lortholary, Alain;
N'Guyen, Tan Dat;
Vennin, Philippe;
Sobol, Hagay;
Stoppa-Lyonnet, Dominique;
Julian-Reynier, Claire

Publication type:

Article

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.

Published in:

Breast Cancer Research, 2023, v. 25, n. 1, p. 1, doi. 10.1186/s13058-023-01673-w

By:

Kast, Karin;
John, Esther M.;
Hopper, John L.;
Andrieu, Nadine;
Noguès, Catherine;
Mouret-Fourme, Emmanuelle;
Lasset, Christine;
Fricker, Jean-Pierre;
Berthet, Pascaline;
Mari, Véronique;
Salle, Lucie;
Schmidt, Marjanka K.;
Ausems, Margreet G. E. M.;
Garcia, Encarnacion B. Gomez;
van de Beek, Irma;
Wevers, Marijke R.;
Evans, D. Gareth;
Tischkowitz, Marc;
Lalloo, Fiona;
Cook, Jackie

Publication type:

Article

Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2.

Published in:

PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0136192

By:

Blein, Sophie;
Barjhoux, Laure;
null, null;
Damiola, Francesca;
Dondon, Marie-Gabrielle;
Eon-Marchais, Séverine;
Marcou, Morgane;
Caron, Olivier;
Lortholary, Alain;
Buecher, Bruno;
Vennin, Philippe;
Berthet, Pascaline;
Noguès, Catherine;
Lasset, Christine;
Gauthier-Villars, Marion;
Mazoyer, Sylvie;
Stoppa-Lyonnet, Dominique;
Andrieu, Nadine;
Thomas, Gilles;
Sinilnikova, Olga M.

Publication type:

Article

Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.

Published in:

2021

By:

Ribeiro Guerra, Maximiliano;
Coignard, Juliette;
Eon-Marchais, Séverine;
Dondon, Marie-Gabrielle;
Le Gal, Dorothée;
Beauvallet, Juana;
Mebirouk, Noura;
Belotti, Muriel;
Caron, Olivier;
Gauthier-Villars, Marion;
Coupier, Isabelle;
Buecher, Bruno;
Lortholary, Alain;
Fricker, Jean-Pierre;
Gesta, Paul;
Noguès, Catherine;
Faivre, Laurence;
Berthet, Pascaline;
Luporsi, Elisabeth;
Delnatte, Capucine

Publication type:

journal article

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.

Published in:

2020

By:

Mavaddat, Nasim;
Antoniou, Antonis C.;
Mooij, Thea M.;
Hooning, Maartje J.;
Heemskerk-Gerritsen, Bernadette A.;
GENEPSO;
Noguès, Catherine;
Laborde, Lilian;
Breysse, Emmanuel;
Stoppa-Lyonnet, Dominique;
Gauthier-Villars, Marion;
Buecher, Bruno;
Caron, Olivier;
Fourme-Mouret, Emmanuelle;
Fricker, Jean-Pierre;
Lasset, Christine;
Bonadona, Valérie;
Berthet, Pascaline;
Faivre, Laurence;
Luporsi, Elisabeth

Publication type:

journal article

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313

By:

Sebai, Molka;
Tulasne, David;
Caputo, Sandrine M.;
Verkarre, Virginie;
Fernandes, Marie;
Guérin, Célia;
Reinhart, Fanny;
Adams, Séverine;
Maugard, Christine;
Caron, Olivier;
Guillaud‐Bataille, Marine;
Berthet, Pascaline;
Bignon, Yves‐Jean;
Bressac‐de Paillerets, Brigitte;
Burnichon, Nelly;
Chiesa, Jean;
Giraud, Sophie;
Lejeune, Sophie;
Limacher, Jean‐Marc;
de Pauw, Antoine

Publication type:

Article

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Published in:

2016

By:

Rebbeck, Timothy R;
Friebel, Tara M;
Mitra, Nandita;
Wan, Fei;
Chen, Stephanie;
Andrulis, Irene L;
Apostolou, Paraskevi;
Arnold, Norbert;
Arun, Banu K;
Barrowdale, Daniel;
Benitez, Javier;
Berger, Raanan;
Berthet, Pascaline;
Borg, Ake;
Buys, Saundra S;
Caldes, Trinidad;
Carter, Jonathan;
Chiquette, Jocelyne;
Claes, Kathleen B M;
Couch, Fergus J

Publication type:

journal article

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Published in:

Breast Cancer Research, 2016, v. 18, p. 1, doi. 10.1186/s13058-016-0768-3

By:

Rebbeck, Timothy R.;
Friebel, Tara M.;
Mitra, Nandita;
Fei Wan;
Chen, Stephanie;
Andrulis, Irene L.;
Apostolou, Paraskevi;
Arnold, Norbert;
Arun, Banu K.;
Barrowdale, Daniel;
Benitez, Javier;
Berger, Raanan;
Berthet, Pascaline;
Borg, Ake;
Buys, Saundra S.;
Caldes, Trinidad;
Carter, Jonathan;
Chiquette, Jocelyne;
Claes, Kathleen B. M.;
Couch, Fergus J.

Publication type:

Article

Comparison of the Screening Practices of Unaffected Noncarriers under 40 and between 40 and 49 in BRCA1/2 Families.

Published in:

Journal of Genetic Counseling, 2013, v. 22, n. 4, p. 469, doi. 10.1007/s10897-012-9569-8

By:

Duprez, Christelle;
Christophe, Véronique;
Milhabet, Isabelle;
Krzeminski, Aurélie;
Adenis, Claude;
Berthet, Pascaline;
Peyrat, Jean-Philippe;
Vennin, Philippe

Publication type:

Article