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1. Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement

Author: Mathias Schwartz, Sabrina Ibadioune, Sophie Vacher, Marie-Charlotte Villy, Olfa Trabelsi-Grati, Jessica Le Gall, Sandrine M. Caputo, Hélène Delhomelle, Mathilde Warcoin, Virginie Moncoutier, Christine Bourneix, Nadia Boutry-Kryza, Antoine De Pauw, Marc-Henri Stern, Bruno Buecher, Emmanuelle Mouret-Fourme, Chrystelle Colas, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Lisa Golmard, and Ivan Bieche
Subjects: HBOC syndrome, Breast neoplasm, Genetic testing, Homologous recombination, DNA methylation, Epigenomics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Breast cancers (BC) are rare in men and are often caused by constitutional predisposing factors. In women, mosaic BRCA1 promoter methylations (MBPM) are frequent events, detected in 4–8% of healthy subjects. This constitutional epimutation increases risk of early-onset and triple-negative BC. However, the role of MBPM in male BC predisposition has never been assessed. We screened 40 blood samples from men affected by BC, and performed extensive tumour analysis on MBPM-positive patients. We detected two patients carrying MBPM. Surprisingly, tumour analysis revealed that neither of these two male BCs were caused by the constitutional BRCA1 epimutations carried by the patients.
Published: 2024
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2. 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

Author: Karin Kast, Esther M. John, John L. Hopper, Nadine Andrieu, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Lasset, Jean-Pierre Fricker, Pascaline Berthet, Véronique Mari, Lucie Salle, Marjanka K. Schmidt, Margreet G. E. M. Ausems, Encarnacion B. Gomez Garcia, Irma van de Beek, Marijke R. Wevers, D. Gareth Evans, Marc Tischkowitz, Fiona Lalloo, Jackie Cook, Louise Izatt, Vishakha Tripathi, Katie Snape, Hannah Musgrave, Saba Sharif, Jennie Murray, EMBRACE Collaborators, Sarah V. Colonna, Irene L. Andrulis, Mary B. Daly, Melissa C. Southey, Miguel de la Hoya, Ana Osorio, Lenka Foretova, Dita Berkova, Anne-Marie Gerdes, Edith Olah, Anna Jakubowska, Christian F. Singer, Yen Tan, Annelie Augustinsson, Johanna Rantala, Jacques Simard, Rita K. Schmutzler, Roger L. Milne, Kelly-Anne Phillips, Mary Beth Terry, David Goldgar, Flora E. van Leeuwen, Thea M. Mooij, Antonis C. Antoniou, Douglas F. Easton, Matti A. Rookus, and Christoph Engel
Subjects: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Abstract Introduction Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also exist for carriers of pathogenic variants in the BRCA1 or BRCA2 genes. Patients and methods An international pooled cohort of 8091 BRCA1/2 variant carriers was used for retrospective and prospective analyses separately for premenopausal and postmenopausal women. Cox regression was used to estimate breast cancer risk associations with height, BMI, and weight change. Results In the retrospective analysis, taller height was associated with risk of premenopausal breast cancer for BRCA2 variant carriers (HR 1.20 per 10 cm increase, 95% CI 1.04–1.38). Higher young-adult BMI was associated with lower premenopausal breast cancer risk for both BRCA1 (HR 0.75 per 5 kg/m2, 95% CI 0.66–0.84) and BRCA2 (HR 0.76, 95% CI 0.65–0.89) variant carriers in the retrospective analysis, with consistent, though not statistically significant, findings from the prospective analysis. In the prospective analysis, higher BMI and adult weight gain were associated with higher postmenopausal breast cancer risk for BRCA1 carriers (HR 1.20 per 5 kg/m2, 95% CI 1.02–1.42; and HR 1.10 per 5 kg weight gain, 95% CI 1.01–1.19, respectively). Conclusion Anthropometric measures are associated with breast cancer risk for BRCA1 and BRCA2 variant carriers, with relative risk estimates that are generally consistent with those for women from the general population.
Published: 2023
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3. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Author: Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Rønlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, and Logan C. Walker
Subjects: Biology (General), QH301-705.5
Abstract: The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.
Published: 2022
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4. GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

Author: Fabienne Lesueur, Noura Mebirouk, Yue Jiao, Laure Barjhoux, Muriel Belotti, Maïté Laurent, Mélanie Léone, Claude Houdayer, Brigitte Bressac-de Paillerets, Dominique Vaur, Hagay Sobol, Catherine Noguès, Michel Longy, Isabelle Mortemousque, Sandra Fert-Ferrer, Emmanuelle Mouret-Fourme, Pascal Pujol, Laurence Venat-Bouvet, Yves-Jean Bignon, Dominique Leroux, Isabelle Coupier, Pascaline Berthet, Véronique Mari, Capucine Delnatte, Paul Gesta, Marie-Agnès Collonge-Rame, Sophie Giraud, Valérie Bonadona, Amandine Baurand, Laurence Faivre, Bruno Buecher, Christine Lasset, Marion Gauthier-Villars, Francesca Damiola, Sylvie Mazoyer, Sandrine M. Caputo, Nadine Andrieu, Dominique Stoppa-Lyonnet, and GEMO Study Collaborators
Subjects: breast cancer, BRCA1/2 mutation carriers, pathogenic variant (PV), DNA banking, genetic epidemiology, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Published: 2018
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5. APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?

Author: Roseline Vibert, Jessica Le Gall, Bruno Buecher, Emmanuelle Mouret-Fourme, Guillaume Bataillon, Véronique Becette, Olfa Trabelsi-Grati, Virginie Moncoutier, Catherine Dehainault, Jennifer Carriere, Mathias Schwartz, Voreak Suybeng, Ivan Bieche, Chrystelle Colas, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, and Lisa Golmard
Subjects: Genetics, Genetics (clinical)
Abstract: APCgermline pathogenic variants result in predisposition to familial adenomatous polyposis and extraintestinal tumours such as desmoid fibromatosis, medulloblastomas and thyroid cancers. They have also been recently involved in ovarian microcystic stromal tumours.APCinactivation has been described at the tumour level in epithelial ovarian cancers (EOCs). Here, we report the identification ofAPCgermline pathogenic variants in two patients diagnosed with premenopausal EOC in early 30s, with no other pathogenic variant detected in the known ovarian cancer predisposing genes. Subsequent tumour analysis showed neither a second hit ofAPCinactivation nor β-catenin activation. Both tumours did not have a homologous recombination (HR) deficiency, pointing towards the implication of other genes than those involved in HR.APCmay contribute to the carcinogenesis of EOC in a multifactorial context. Further studies are required to clarify the role ofAPCin predisposition to EOC.
Published: 2022
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6. Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants

Author: Claire Saule, Solveig Menu-Hespel, Matthieu Carton, Caroline Malhaire, Pascal Cherel, Fabien Reyal, Marine Le Mentec, Eugénie Guillot, Anne Donnadieu, Nasrine Callet, Sophie Frank, Florence Coussy, Dominique Stoppa-Lyonnet, and Emmanuelle Mouret-Fourme
Subjects: BRCA2 Protein, BRCA1 Protein, Genes, BRCA2, Genetics, Humans, Breast Neoplasms, Female, Germ-Line Mutation, Genetics (clinical), Retrospective Studies
Abstract: Women with pathogenic germline BRCA1 or BRCA2 variants have a higher risk of breast cancer than in the general population. International guidelines recommend specific clinical and radiological breast follow-up. This specific breast screening program has already been shown to be of clinical benefit, but no information is available concerning the use of prognostic factors or specific survival to guide follow-up decisions. We evaluated "high-risk" screening in a retrospective single-center study of 520 women carrying pathogenic germline variants of the BRCA1 or BRCA2 gene treated for breast cancer between January 2000 and December 2016. We compared two groups of women: the incidental breast cancer group (IBCG) were followed before breast cancer diagnosis (N = 103), whereas the prevalent breast cancer group (PBCG) (N = 417) had no specific follow-up for high risk before breast cancer diagnosis. Breast cancers were diagnosed at an earlier stage in the IBCG than in the PBCG: T0 in 64% versus 19% of tumors, (p 0.00001), and N0 in 90% vs. 75% (p 0.00001), respectively. Treatment differed significantly between the 2 groups: less neoadjuvant chemotherapy (7.1% vs. 28.5%, p 0.00001), adjuvant chemotherapy (47.7% vs. 61.9%, p = 0.004) and more mastectomies (60% vs. 42% p 0.0001) in the IBCG vs PBCG groups respectively. Overall and breast cancer-specific mortality were similar between the two groups. However, the patients in the IBCG had a significantly longer metastasis-free survival than those in the PBCG, at three years (96.9% [95% CI 93.5-100] vs. 92.30% [95% CI 89.8-94.9]; p = 0.02), suggesting a possible long-term survival advantage.
Published: 2022
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7. Data from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

Author: Nadine Andrieu, Christine Lasset, Julie Tinat, Chrystelle Colas, Christine M. Maugard, Laurence Venat-Bouvet, Dominique Leroux, Elisabeth Luporsi, Alain Lortholary, Laurence Gladieff, Véronique Mari, François Eisinger, Paul Gesta, Laurence Faivre, Pascal Pujol, Isabelle Coupier, Olivier Caron, Pascaline Berthet, Jean-Pierre Fricker, Valérie Bonadona, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Emmanuelle Mouret-Fourme, Catherine Noguès, and Julie Lecarpentier
Abstract: Background: Mutations in BRCA1/2 confer a high risk of breast cancer, but literature values of this risk vary. A genotype–phenotype correlation has been found in both genes, and the effect of reproductive factors differs according to mutation location. Therefore, we hypothesize that such a variation may exist for other factors related to estrogen exposure.Methods: We used a weighted Cox regression model to assess variation in breast cancer risk with these factors using location of mutation in homogeneous breast cancer risk region of BRCA1/2 in the GENEPSO study.Results: We found that late age at menarche reduced breast cancer risk by 31% and that among BRCA1 carriers, a long or a short menstrual cycle increased risk (by 65% and 73%, respectively). Among premenopausal women, overweight was associated with a 45% decrease in risk whereas underweight was associated with an increased risk (HR, 2.40). A natural menopause, mainly after age 50, was associated with a high breast cancer risk (HR, 2.46), and a significant interaction between menopause status and the location of mutations was found leading up to 10% variation in absolute risk according to the age at menopause.Conclusions: As observed in the general population, a late menarche, a long or a short menstrual cycle, over- or underweight, and being postmenopausal were associated with breast cancer risk in BRCA1/2 carriers. The association with the menopause was observed only when the mutation was located in the “high-risk” zones.Impact: Taking into account modifier factors, location of mutation might be important for the clinical management of BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 24(4); 698–707. ©2015 AACR.
Published: 2023
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8. Supplementary Figure 1 from Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

Author: Nadine Andrieu, Christine Lasset, Julie Tinat, Chrystelle Colas, Christine M. Maugard, Laurence Venat-Bouvet, Dominique Leroux, Elisabeth Luporsi, Alain Lortholary, Laurence Gladieff, Véronique Mari, François Eisinger, Paul Gesta, Laurence Faivre, Pascal Pujol, Isabelle Coupier, Olivier Caron, Pascaline Berthet, Jean-Pierre Fricker, Valérie Bonadona, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Emmanuelle Mouret-Fourme, Catherine Noguès, and Julie Lecarpentier
Abstract: Supplementary Figure 1: Representation of BRCA1 and BRCA2 major functional and risk domains (location of codons)
Published: 2023
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9. Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood

Author: Mathias Schwartz, Virginie Moncoutier, Adrien Peytral, Jessica Le Gall, Voreak Suybeng, Mélanie Pagès, Julien Masliah‐Planchon, Olfa Trabelsi‐Grati, Samia Melaabi, Céline Callens, Ivan Bièche, Hélène Delhomelle, Antoine De Pauw, Claire Saule, Emmanuelle Mouret‐Fourme, Marion Gauthier‐Villars, Bruno Buecher, Chrystelle Colas, Dominique Stoppa‐Lyonnet, and Lisa Golmard
Subjects: Genetics, Genetics (clinical)
Published: 2023
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10. Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence

Author: Andrew Lee, Nasim Mavaddat, Alex Cunningham, Tim Carver, Lorenzo Ficorella, Stephanie Archer, Fiona M Walter, Marc Tischkowitz, Jonathan Roberts, Juliet Usher-Smith, Jacques Simard, Marjanka K Schmidt, Peter Devilee, Vesna Zadnik, Hannes Jürgens, Emmanuelle Mouret-Fourme, Antoine De Pauw, Matti Rookus, Thea M Mooij, Paul PD Pharoah, Douglas F Easton, and Antonis C Antoniou
Subjects: Genetics, Genetics (clinical)
Abstract: BackgroundBOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) for breast cancer and the epithelial tubo-ovarian cancer (EOC) models included in the CanRisk tool (www.canrisk.org) provide future cancer risks based on pathogenic variants in cancer-susceptibility genes, polygenic risk scores, breast density, questionnaire-based risk factors and family history. Here, we extend the models to include the effects of pathogenic variants in recently established breast cancer and EOC susceptibility genes, up-to-date age-specific pathology distributions and continuous risk factors.MethodsBOADICEA was extended to further incorporate the associations of pathogenic variants inBARD1,RAD51CandRAD51Dwith breast cancer risk. The EOC model was extended to include the association ofPALB2pathogenic variants with EOC risk. Age-specific distributions of oestrogen-receptor-negative and triple-negative breast cancer status for pathogenic variant carriers in these genes andCHEK2andATMwere also incorporated. A novel method to include continuous risk factors was developed, exemplified by including adult height as continuous.ResultsBARD1,RAD51CandRAD51Dexplain 0.31% of the breast cancer polygenic variance. When incorporated into the multifactorial model, 34%–44% of these carriers would be reclassified to the near-population and 15%–22% to the high-risk categories based on the UK National Institute for Health and Care Excellence guidelines. Under the EOC multifactorial model, 62%, 35% and 3% ofPALB2carriers have lifetime EOC risks of 10%, respectively. Including height as continuous, increased the breast cancer relative risk variance from 0.002 to 0.010.ConclusionsThese extensions will allow for better personalised risks forBARD1,RAD51C,RAD51DandPALB2pathogenic variant carriers and more informed choices on screening, prevention, risk factor modification or other risk-reducing options.
Published: 2022

11. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Author: Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, Sandrine M. Caputo, Marie-Gabrielle Dondon, Mojgan Karimi, Dorothée Le Gal, Juana Beauvallet, Édith Le Floch, Claire Dandine-Roulland, Delphine Bacq-Daian, Robert Olaso, Juliette Albuisson, Séverine Audebert-Bellanger, Pascaline Berthet, Valérie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaillé, Jean Chiesa, Chrystelle Colas, Marie-Agnès Collonge-Rame, Isabelle Coupier, Capucine Delnatte, Antoine De Pauw, Hélène Dreyfus, Sandra Fert-Ferrer, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Lisa Golmard, Christine Lasset, Sophie Lejeune-Dumoulin, Mélanie Léoné, Jean-Marc Limacher, Alain Lortholary, Élisabeth Luporsi, Véronique Mari, Christine M. Maugard, Isabelle Mortemousque, Emmanuelle Mouret-Fourme, Sophie Nambot, Catherine Noguès, Cornel Popovici, Fabienne Prieur, Pascal Pujol, Nicolas Sevenet, Hagay Sobol, Christine Toulas, Nancy Uhrhammer, Dominique Vaur, Laurence Venat, Anne Boland-Augé, Pascal Guénel, Jean-François Deleuze, Dominique Stoppa-Lyonnet, Nadine Andrieu, and Fabienne Lesueur
Subjects: Cancer Research, Oncology
Abstract: Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for improving risk prediction in the general population. However, the effect of these SNPs may vary from one country to another and within a country because of other factors.To assess their associated risk and predictive performance in French women from (1) the CECILE population-based case-control study, (2) BRCA1 or BRCA2 (BRCA1/2) pathogenic variant (PV) carriers from the GEMO study, and (3) familial breast cancer cases with no BRCA1/2 PV and unrelated controls from the GENESIS study.All three PRS were associated with breast cancer in all studies, with odds ratios per standard deviation varying from 1.7 to 2.0 in CECILE and GENESIS, and hazard ratios varying from 1.1 to 1.4 in GEMO. The predictive performance of PRSOur results are in line with previous validation studies in the general population and in BRCA1/2 PV carriers. Additionally, we showed that PRS may be of clinical utility for women with a strong family history of breast cancer and no BRCA1/2 PV, and for those carrying a predicted PV in a moderate-risk gene like ATM, CHEK2 or PALB2.
Published: 2022

12. Co-occurrence of germline BRCA1 and CDH1 pathogenic variants

Author: Dominique Lamarque, Lisa Golmard, Gilles Marx, Emmanuelle Mouret-Fourme, Marie-Charlotte Villy, Etienne Rouleau, Dominique Stoppa-Lyonnet, Nasrine Callet, Véronique Becette, and Chrystelle Colas
Subjects: 0301 basic medicine, Proband, Genetics, medicine.medical_specialty, Daughter, business.industry, media_common.quotation_subject, Genetic counseling, Cancer, medicine.disease, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Breast cancer, 030220 oncology & carcinogenesis, Medicine, Medical genetics, business, Genetics (clinical), Aunt, media_common
Abstract: Introduction: We report a very rare case of familial breast cancer and diffuse gastric cancer, with germline pathogenic variants in both BRCA1 and CDH1 genes. To the best of our knowledge, this is the first report of such an association.Family description: The proband is a woman diagnosed with breast cancer at the age of 52 years. She requested genetic counselling in 2012, at the age of 91 years, because of a history of breast cancer in her daughter, her sister, her niece and her paternal grandmother and was therefore concerned about her relatives. Her sister and maternal aunt also had gastric cancer. She was tested for several genes associated with hereditary breast cancer.Results: A large deletion of BRCA1 from exons 1 to 7 and two CDH1 pathogenic cis variants were identified.Conclusion: This complex situation is challenging for genetic counselling and management of at-risk individuals.
Published: 2020
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13. Cancer Risks Associated With

Author: Shuai, Li, Valentina, Silvestri, Goska, Leslie, Timothy R, Rebbeck, Susan L, Neuhausen, John L, Hopper, Henriette Roed, Nielsen, Andrew, Lee, Xin, Yang, Lesley, McGuffog, Michael T, Parsons, Irene L, Andrulis, Norbert, Arnold, Muriel, Belotti, Åke, Borg, Bruno, Buecher, Saundra S, Buys, Sandrine M, Caputo, Wendy K, Chung, Chrystelle, Colas, Sarah V, Colonna, Jackie, Cook, Mary B, Daly, Miguel, de la Hoya, Antoine, de Pauw, Hélène, Delhomelle, Jacqueline, Eason, Christoph, Engel, D Gareth, Evans, Ulrike, Faust, Tanja N, Fehm, Florentia, Fostira, George, Fountzilas, Megan, Frone, Vanesa, Garcia-Barberan, Pilar, Garre, Marion, Gauthier-Villars, Andrea, Gehrig, Gord, Glendon, David E, Goldgar, Lisa, Golmard, Mark H, Greene, Eric, Hahnen, Ute, Hamann, Helen, Hanson, Tiara, Hassan, Julia, Hentschel, Judit, Horvath, Louise, Izatt, Ramunas, Janavicius, Yue, Jiao, Esther M, John, Beth Y, Karlan, Sung-Won, Kim, Irene, Konstantopoulou, Ava, Kwong, Anthony, Laugé, Jong Won, Lee, Fabienne, Lesueur, Noura, Mebirouk, Alfons, Meindl, Emmanuelle, Mouret-Fourme, Hannah, Musgrave, Joanne, Ngeow Yuen Yie, Dieter, Niederacher, Sue K, Park, Inge Sokilde, Pedersen, Juliane, Ramser, Susan J, Ramus, Johanna, Rantala, Muhammad U, Rashid, Florian, Reichl, Julia, Ritter, Andreas, Rump, Marta, Santamariña, Claire, Saule, Gunnar, Schmidt, Rita K, Schmutzler, Leigha, Senter, Saba, Shariff, Christian F, Singer, Melissa C, Southey, Dominique, Stoppa-Lyonnet, Christian, Sutter, Yen, Tan, Soo Hwang, Teo, Mary Beth, Terry, Mads, Thomassen, Marc, Tischkowitz, Amanda E, Toland, Diana, Torres, Ana, Vega, Sebastian A, Wagner, Shan, Wang-Gohrke, Barbara, Wappenschmidt, Bernhard H F, Weber, Drakoulis, Yannoukakos, Amanda B, Spurdle, Douglas F, Easton, Georgia, Chenevix-Trench, Laura, Ottini, and Antonis C, Antoniou
Subjects: BRCA2 Protein, Male, Ovarian Neoplasms, Risk, Heterozygote, BRCA1 Protein, Infant, Newborn, Breast Neoplasms, Breast Neoplasms, Male, Pancreatic Neoplasms, Mutation, Humans, Female, Genetic Predisposition to Disease
Abstract: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) inWe used data from 3,184In addition to female breast and ovarian cancers
Published: 2022

14. Enhancing the BOADICEA cancer risk prediction model to incorporate new data on

Author: Andrew, Lee, Nasim, Mavaddat, Alex, Cunningham, Tim, Carver, Lorenzo, Ficorella, Stephanie, Archer, Fiona M, Walter, Marc, Tischkowitz, Jonathan, Roberts, Juliet, Usher-Smith, Jacques, Simard, Marjanka K, Schmidt, Peter, Devilee, Vesna, Zadnik, Hannes, Jürgens, Emmanuelle, Mouret-Fourme, Antoine, De Pauw, Matti, Rookus, Thea M, Mooij, Paul Pd, Pharoah, Douglas F, Easton, and Antonis C, Antoniou
Subjects: Adult, Ovarian Neoplasms, DNA-Binding Proteins, BRCA1 Protein, Risk Factors, Incidence, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, Humans, Female, Genetic Predisposition to Disease, Breast Neoplasms, Carcinoma, Ovarian Epithelial
Abstract: BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) for breast cancer and the epithelial tubo-ovarian cancer (EOC) models included in the CanRisk tool (www.canrisk.org) provide future cancer risks based on pathogenic variants in cancer-susceptibility genes, polygenic risk scores, breast density, questionnaire-based risk factors and family history. Here, we extend the models to include the effects of pathogenic variants in recently established breast cancer and EOC susceptibility genes, up-to-date age-specific pathology distributions and continuous risk factors.BOADICEA was extended to further incorporate the associations of pathogenic variants inThese extensions will allow for better personalised risks for
Published: 2022

15. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author: Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, Nadine Andrieu, Irene L. Andrulis, Norbert Arnold, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Katarzyna Białkowska, Amie M. Blanco, Marinus J. Blok, Bernardo Bonanni, Susanne E. Boonen, Åke Borg, Aniko Bozsik, Angela R. Bradbury, Paul Brennan, Carole Brewer, Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Lise Lotte Christensen, Wendy K. Chung, Kathleen B.M. Claes, Chrystelle Colas, Marie-Agnès Collonge-Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret-Fourme, Hélène Schuster, Dominique Stoppa-Lyonnet, Antonis Antoniou, Jackie Cook, Rosemarie Davidson, Douglas Easton, Ros Eeles, D. Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-ren Ong, Lucy Side, Aoife O’Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Mary B. Daly, Miguel de la Hoya, Robin de Putter, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Cecilia M. Dorfling, Martine Dumont, Bent Ejlertsen, Christoph Engel, Lenka Foretova, Florentia Fostira, Michael Friedlander, Eitan Friedman, Patricia A. Ganz, Judy Garber, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Anna González-Neira, Mark H. Greene, Daphne Gschwantler-Kaulich, Eric Hahnen, Ute Hamann, Julia Hentschel, Frans B.L. Hogervorst, Maartje J. Hooning, Judit Horvath, Chunling Hu, Peter J. Hulick, Evgeny N. Imyanitov, Georgia Chenevix-Trench, Kelly-Anne Phillips, Amanda Spurdle, Marinus Blok, Frans Hogervorst, Maartje Hooning, Marco Koudijs, Arjen Mensenkamp, Hanne Meijers-Heijboer, Matti Rookus, Klaartje van Engelen, Catherine Noguès, Claudine Isaacs, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Karin Kast, Torben A. Kruse, Ava Kwong, Yael Laitman, Conxi Lazaro, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jennifer T. Loud, Jan Lubiński, Phuong L. Mai, Siranoush Manoukian, Hanne E.J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Austin Miller, Marco Montagna, Semanti Mukherjee, Anna Marie Mulligan, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Dieter Niederacher, Finn Cilius Nielsen, Liene Nikitina-Zake, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Laura Papi, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Paolo Peterlongo, Georg Pfeiler, Karolina Prajzendanc, Miquel Angel Pujana, Paolo Radice, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Gad Rennert, Harvey A. Risch, Mark Robson, Karina Rønlund, Ritu Salani, Leigha Senter, Payal D. Shah, Priyanka Sharma, Lucy E. Side, Christian F. Singer, Thomas P. Slavin, Penny Soucy, Melissa C. Southey, Amanda B. Spurdle, Doris Steinemann, Zoe Steinsnyder, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Darcy L. Thull, Silvia Tognazzo, Amanda E. Toland, Alison H. Trainer, Nadine Tung, Elizabeth J. van Rensburg, Ana Vega, Jeroen Vierstraete, Gabriel Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Siddhartha Yadav, Xin Yang, Drakoulis Yannoukakos, Dario Zimbalatti, Kenneth Offit, Mads Thomassen, Fergus J. Couch, Rita K. Schmutzler, Jacques Simard, Douglas F. Easton, Antonis C. Antoniou, Pediatric surgery, Human genetics, CCA - Cancer biology and immunology, CCA - Cancer Treatment and quality of life, Amsterdam Reproduction & Development (AR&D), Apollo - University of Cambridge Repository, University of Cambridge [UK] (CAM), Netherlands Cancer Institute (NKI), Antoni van Leeuwenhoek Hospital, Chapel Allerton Hospital, Great Ormond Street Hospital for Children [London] (GOSH), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], Université Paris sciences et lettres (PSL), Mount Sinai Hospital [Toronto, Canada] (MSH), University of Toronto (University of Toronto), Christian-Albrechts University of Kiel, The University of Texas M.D. Anderson Cancer Center [Houston], Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan], Vall d'Hebron Institute of Oncology [Barcelone] (VHIO), Vall d'Hebron University Hospital [Barcelona], Landspitali National University Hospital of Iceland, University of Iceland [Reykjavik], CIBER de Enfermedades Raras (CIBERER), Spanish National Cancer Research Center (CNIO), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Pomeranian Medical University [Szczecin] (PUM), University of California (UC), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], European Institute of Oncology IRCCS [Milan, Italy] (EIO), Zealand University Hospital [Roskilde, Denmark], Lund University [Lund], National Institute of Oncology [Budapest, Hungary], Abramson Cancer Center [philadelphia], University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Institute of Genetic Medicine [Newcastle], Newcastle University [Newcastle], Royal Devon & Exeter Hospital, Exeter, UK, Catalan Institute of Oncology [Barcelone, Espagne], Huntsman Cancer Institute [Salt Lake City], University of Utah, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Pisa University Hospital, Peter MacCallum Cancer Centre [Melbourne, Australie], University of Melbourne, Aarhus University Hospital, Columbia University [New York], Ghent University Hospital, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Sheffield Children's NHS Foundation Trust, Fox Chase Cancer Center, Queen Elizabeth University Hospital (Glasgow), Centre hospitalier universitaire de Nantes (CHU Nantes), Leiden University Medical Center (LUMC), Beckman Research Institute of the City of Hope, Abramson Cancer Center, University of Pretoria [South Africa], Centre Hospitalier Universitaire de Québec Research Center [Canada], Royal Marsden NHS Foundation Trust, Copenhagen University Hospital, Leipzig University, University of Manchester [Manchester], Manchester Academic Health Science Centre (MAHSC), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Masaryk Memorial Cancer Institute (MMCI), Institute of Nuclear and Radiological Sciences and Technology, Energy and Safety (INRASTES), National Center for Scientific Research 'Demokritos' (NCSR), NHMRC Clinical Trials Centre [Camperdown NSW 2050, Australie], Chaim Sheba Medical Center, Tel Aviv University (TAU), Jonsson Comprehensive Cancer Center, University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC), Dana-Farber Cancer Institute [Boston], University of Würzburg, Rigshospitalet [Copenhagen], Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), Hospices Civils de Lyon (HCL), University of Kansas [Kansas City], National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Medizinische Universität Wien = Medical University of Vienna, University of Cologne, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Lancashire NHS Foundation Trust, University Hospital Leipzig, Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Mayo Clinic, NorthShore University HealthSystem [Evanston, IL, USA], The University of Chicago Medicine [Chicago], N. N. Petrov Institute of Oncology, Georgetown Lombardi Comprehensive Cancer Center, Guy's and St Thomas' NHS Foundation Trust [London, UK], Peter MacCallum Cancer Center, East Melbourne, Peter MacCallum Cancer Center, Vilnius University [Vilnius], The State Scientific Research Institute Nature Research Centre, Vilnius, Lithuania, Stanford University School of Medicine [CA, USA], Memorial Sloane Kettering Cancer Center [New York], Cedars-Sinai Medical Center, Technische Universität Dresden = Dresden University of Technology (TU Dresden), University Medical Center [Utrecht], Odense University Hospital [Odense, Denmark], The Hong Kong Hereditary Breast Cancer Family Registry, The University of Hong Kong (HKU), Hong Kong Sanatorium and Hospital [Hong Kong] (HKSH), Equipe de prévention et épidémiologie génétique, Centre Léon Bérard [Lyon], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), David Geffen School of Medicine [Los Angeles], Fondation MINES ParisTech, Karolinska Institutet [Stockholm], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE), Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), Amsterdam UMC - Amsterdam University Medical Center, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Radboud University Medical Center [Nijmegen], Roswell Park Cancer Institute [Buffalo], Veneto Institute of Oncology IOV-IRCCS [Padua, Italy], University of Toronto, University Health Network, University Hospital Düsseldorf, Latvian Biomedical Research and Study Centre [Rīga], Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), University of Chicago, Birmingham Women's and Children's NHS Foundation Trust, Cambridge University Hospitals - NHS (CUH), Charité Campus Virchow-Klinikum (CVK), Università degli Studi di Firenze = University of Florence (UniFI), Seoul National University College of Medicine [Séoul, Corée du Sud] (SNUCM), Seoul National University [Seoul] (SNU), QIMR Berghofer Medical Research Institute, Aalborg University [Denmark] (AAU), IRCCS Istituto Nazionale dei Tumori [Milano], Instituto Português de Oncologia do Porto / Portuguese Oncology Institute of Porto (IPO Porto), IFOM, Istituto FIRC di Oncologia Molecolare (IFOM), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Klinikum rechts der Isar [Munich, Germany], University of New South Wales [Sydney] (UNSW), Garvan Institute of medical research, Technion Faculty of Medicine [Haifa, Israel], Yale School of Medicine [New Haven, Connecticut] (YSM), Vejle Hospital [Danemark], Ohio State University [Columbus] (OSU), Centre de lutte contre le cancer Paul-Strauss, Institut de Cancérologie de Strasbourg Europe (ICANS), Immuno-Rhumatologie Moléculaire, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Kansas Medical Center [Kansas City, KS, USA], Princess Anne Hospital, City of Hope Comprehensive Cancer Center [Duarte], Monash University [Clayton], Cancer Council Victoria [Melbourne, VIC, Australia], Hannover Medical School [Hannover] (MHH), Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Heidelberg University Hospital [Heidelberg], Institute of Biomedical Sciences Abel Salazar - ICBAS [Porto, Portugal], Malaysia and University Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya [Kuala Lumpur, Malaisie], University of Malaya = Universiti Malaya [Kuala Lumpur, Malaisie] (UM), McGill University = Université McGill [Montréal, Canada], Beth Israel Deaconess Medical Center [Boston] (BIDMC), Harvard Medical School [Boston] (HMS), Fundación Pública Galega Medicina Xenómica - SERGAS [Santiago de Compostela, Spain] (Grupo de Medicina Xenómica), CIBER de Enfermedades Raras (CIBERER)-Universidade de Santiago de Compostela [Spain] (USC ), Instituto de Investigaciones Sanitarias, Universidade de Santiago de Compostela [Spain] (USC ), Universiteit Gent = Ghent University (UGENT), Oxford University Hospitals NHS Trust, University of Oxford, Universitätsklinikum Ulm - University Hospital of Ulm, University Hospital of Cologne [Cologne], Mayo Clinic [Rochester], Collaborators : Pascaline Berthet, Chrystelle Colas, Marie-Agnès Collonge-Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret-Fourme, Hélène Schuster, Dominique Stoppa-Lyonnet, Julian Adlard, Munaza Ahmed, Antonis Antoniou, Daniel Barrowdale, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Douglas Easton, Ros Eeles, D Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-Ren Ong, Lucy Side, Aoife O'Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Georgia Chenevix-Trench, Kelly-Anne Phillips, Amanda Spurdle, Marinus Blok, Peter Devilee, Frans Hogervorst, Maartje Hooning, Marco Koudijs, Arjen Mensenkamp, Hanne Meijers-Heijboer, Matti Rookus, Klaartje van Engelen, Nadine Andrieu, Catherine Noguès, Dupuis, Christine, Institut Català de la Salut, [Barnes DR, McGuffog L, Leslie G, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Rookus MA, Mooij TM] The Netherlands Cancer Institute, Department of Epidemiology (PSOE), Amsterdam, The Netherlands. [Balmaña J] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Barnes, Daniel [0000-0002-3781-7570], Leslie, Goska [0000-0001-5756-6222], Dennis, Joe [0000-0003-4591-1214], Mavaddat, Nasim [0000-0003-0307-055X], RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Universiteit Leiden, Roswell Park Cancer Institute [Buffalo] (RPCI), Medical Oncology, Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, Department of Obstetrics and Gynecology, Biosciences, HUS Gynecology and Obstetrics, University of Helsinki, Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), MINES ParisTech - École nationale supérieure des mines de Paris, UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Pomeranian Medical University, University of California, University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], University of Leipzig [Leipzig, Allemagne], Masaryk Memorial Cancer Institute (RECAMO), Tel Aviv University [Tel Aviv], University of California-University of California, University of Münster, Amsterdam UMC, Technical University of Munich (TUM), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Garvan Institute of Medical Research [Sydney, Australia], Yale University School of Medicine, Vejle Hospital, University of Kansas Medical Center [Lawrence], Université Paris Descartes (Paris 5), University of Malaya [Kuala Lumpur, Malaisie], Universiteit Gent = Ghent University [Belgium] (UGENT), and University of Oxford [Oxford]
Subjects: 0301 basic medicine, Oncology, endocrine system diseases, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], [SDV]Life Sciences [q-bio], Càncer d'ovari, Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], MODIFIERS, Diàtesi, SUSCEPTIBILITY, Carcinoma, Ovarian Epithelial, PRS, 0302 clinical medicine, Breast cancer, 3123 Gynaecology and paediatrics, Risk Factors, Medicine and Health Sciences, Medicine, Genetics(clinical), genetics, Prospective Studies, Prospective cohort study, skin and connective tissue diseases, Genetics (clinical), Ovarian Neoplasms, education.field_of_study, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], BRCA1 Protein, Hazard ratio, Absolute risk reduction, 1184 Genetics, developmental biology, physiology, article, ASSOCIATION, neoplasias::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas::carcinoma epitelial de ovario [ENFERMEDADES], ddc, 3. Good health, [SDV] Life Sciences [q-bio], ovarian cancer, 030220 oncology & carcinogenesis, Female, Cohort study, medicine.medical_specialty, Heterozygote, Population, 3122 Cancers, Single-nucleotide polymorphism, Breast Neoplasms, MUTATION CARRIERS, Ovaris - Càncer - Aspectes genètics, Càncer de mama, 03 medical and health sciences, breast cancer, SDG 3 - Good Health and Well-being, Ovarian cancer, BRCA1/2, Internal medicine, Humans, Genetic Predisposition to Disease, education, Retrospective Studies, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], BRCA2 Protein, IDENTIFICATION, business.industry, Neoplasms::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms::Carcinoma, Ovarian Epithelial [DISEASES], Retrospective cohort study, ALLELES, medicine.disease, BRCA1, BRCA2, MODEL, PATHOLOGY, 030104 developmental biology, Mutation, Mama - Càncer - Aspectes genètics, 3111 Biomedicine, business
Abstract: Contains fulltext : 229292.pdf (Publisher’s version ) (Open Access) PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. METHODS: Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. RESULTS: The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10(-72)). For BRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36], P = 7×10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk for BRCA1 (HR = 1.32 [95% CI 1.25-1.40], P = 3×10(-22)) and BRCA2 (HR = 1.44 [95% CI 1.30-1.60], P = 4×10(-12)) carriers. The associations in the prospective cohort were similar. CONCLUSION: Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
Published: 2020
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16. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

Author: Lieske H. Schrijver, Antonis C. Antoniou, Håkan Olsson, Thea M. Mooij, Marie-José Roos-Blom, Leyla Azarang, Julian Adlard, Munaza Ahmed, Daniel Barrowdale, Rosemarie Davidson, Alan Donaldson, Ros Eeles, D. Gareth Evans, Debra Frost, Alex Henderson, Louise Izatt, Kai-Ren Ong, Valérie Bonadona, Isabelle Coupier, Laurence Faivre, Jean-Pierre Fricker, Paul Gesta, Klaartje van Engelen, Agnes Jager, Fred H. Menko, Marian J.E. Mourits, Christian F. Singer, Yen Y. Tan, Lenka Foretova, Marie Navratilova, Rita K. Schmutzler, Carolina Ellberg, Anne-Marie Gerdes, Trinidad Caldes, Jacques Simard, Edith Olah, Anna Jakubowska, Johanna Rantala, Ana Osorio, John L. Hopper, Kelly-Anne Phillips, Roger L. Milne, Mary Beth Terry, Catherine Noguès, Christoph Engel, Karin Kast, David E. Goldgar, Flora E. van Leeuwen, Douglas F. Easton, Nadine Andrieu, Matti A. Rookus, Lilian Laborde, Pauline Pontois, Emanuelle Breysse, Margot Berline, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Chrystelle Colas, Olivier Caron, Emmanuelle Mouret-Fourme, Claire Saule, Christine Lasset, Sophie Dussard, Pascaline Berthet, Elisabeth Luporsi, Véronique Mari, Laurence Gladieff, Stéphanie Chieze-Valéro, Jessica Moretta, Hagay Sobol, François Eisinger, Cornel Popovici, Michel Longy, Louise Grivelli, Florent Soubrier, Patrick Benusiglio, Pascal Pujol, Carole Corsini, Marie-Emmanuelle Morin-Meschin, Alain Lortholary, Claude Adenis, Audrey Maillez, Tan Dat Nguyen, Capucine Delnatte, Caroline Abadie, Julie Tinat, Isabelle Tennevet, Christine Maugard, Yves-Jean Bignon, Mathilde Gay Bellile, Clotilde Penet, Hélène Dreyfus, Odile Cohen-Haguenauer, Brigitte Gilbert, Laurence Venat-Bouvet, Dominique Leroux, Clémentine Legrand, Hélène Zattara-Cannoni, Valérie Layet, Elodie Lacaze, Sandra Fert-Ferrer, Odile Bera, Brigitte Gilbert-Dussardier, David Tougeron, Hakima Lallaoui, M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner, J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere, C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg, M.R. Wevers, A.R. Mensenkamp, M.G.E.M. Ausems, M.J. Koudijs, I. van de Beek, K. van Engelen, J.J.P. Gille, E.B. Gómez García, M.J. Blok, M. de Boer, L.P.V. Berger, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock, S. Siesling, J. Verloop, E.C. van den Broek, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human genetics, Epidemiology and Data Science, Cancer Center Amsterdam, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Institut National de la Santé et de la Recherche Médicale (INSERM), UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Centre Paul Strauss, CRLCC Paul Strauss, Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Aix Marseille Université (AMU), Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), Human Genetics, APH - Methodology, APH - Quality of Care, Antoniou, Antonis [0000-0001-9223-3116], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Michel-Avella, Amandine, Medical Oncology, and Clinical Genetics
Subjects: endocrine system diseases, [SDV]Life Sciences [q-bio], MESH: Proportional Hazards Models, Cohort Studies, fetal growth restriction, small for gestational age, MESH: BRCA2 Protein, EPITHELIAL OVARIAN-CANCER, Medicine, pharma-ceutical treatment, MESH: Cohort Studies, Original Research, oral contraceptives, risk, Ovarian Neoplasms, education.field_of_study, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MESH: Middle Aged, obstetrics, Obstetrics, BRCA1 Protein, Hazard ratio, MESH: Genetic Predisposition to Disease, Obstetrics and Gynecology, Oral/administration & dosage, Contraceptives, pregnancy complica-tions, MESH: Follow-Up Studies, Contraceptives, Oral/administration & dosage, Middle Aged, BRCA2 Protein/genetics, drug therapy, [SDV] Life Sciences [q-bio], Europe, MESH: Ovarian Neoplasms, ovarian cancer, SURVIVAL, Female, epidemiology, Ovarian Neoplasms/epidemiology, pregnancy, MESH: Contraceptives, Oral, preterm delivery, legislative framework, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Cohort study, HORMONAL FACTORS, Adult, preterm labor, medicine.medical_specialty, preterm premature rupture of membranes, MESH: Mutation, Population, REPRODUCTIVE RISK-FACTORS, retrospective, clinical trials with pregnant women, MUTATION CARRIERS, BREAST, Europe/epidemiology, research and development, preeclampsia, Breast cancer, multivariate, SDG 3 - Good Health and Well-being, Humans, Genetic Predisposition to Disease, observational, education, MESH: BRCA1 Protein, Proportional Hazards Models, Retrospective Studies, BRCA2 Protein, MESH: Humans, survival bias, treatment during pregnancy, Proportional hazards model, business.industry, Retrospective cohort study, MESH: Adult, MESH: Retrospective Studies, medicine.disease, BRCA1, BRCA2, drug development, Confidence interval, placental transfer, Gynecology, obstetrical syndromes, Mutation, BRCA1 Protein/genetics, MESH: Europe, business, Ovarian cancer, MESH: Female, Contraceptives, Oral, Follow-Up Studies
Abstract: Contains fulltext : 237895.pdf (Publisher’s version ) (Open Access) BACKGROUND: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral contraceptives in the general population are well established (approximately 50% risk reduction in ovarian cancer), the estimated risk reduction in mutation carriers is much less precise because of potential bias and small sample sizes. In addition, only a few studies on oral contraceptive use have examined the associations of duration of use, time since last use, starting age, and calendar year of start with risk of ovarian cancer. OBJECTIVE: This study aimed to investigate in more detail the associations of various characteristics of oral contraceptive use and risk of ovarian cancer, to provide healthcare providers and carriers with better risk estimates. STUDY DESIGN: In this international retrospective study, ovarian cancer risk associations were assessed using oral contraceptives data on 3989 BRCA1 and 2445 BRCA2 mutation carriers. Age-dependent-weighted Cox regression analyses were stratified by study and birth cohort and included breast cancer diagnosis as a covariate. To minimize survival bias, analyses were left truncated at 5 years before baseline questionnaire. Separate analyses were conducted for each aspect of oral contraceptive use and in a multivariate analysis, including all these aspects. In addition, the analysis of duration of oral contraceptive use was stratified by recency of use. RESULTS: Oral contraceptives were less often used by mutation carriers who were diagnosed with ovarian cancer (ever use: 58.6% for BRCA1 and 53.5% BRCA2) than by unaffected carriers (ever use: 88.9% for BRCA1 and 80.7% for BRCA2). The median duration of use was 7 years for both BRCA1 and BRCA2 carriers who developed ovarian cancer and 9 and 8 years for unaffected BRCA1 and BRCA2 carriers with ovarian cancer, respectively. For BRCA1 mutation carriers, univariate analyses have shown that both a longer duration of oral contraceptive use and more recent oral contraceptive use were associated with a reduction in the risk of ovarian cancer. However, in multivariate analyses, including duration of use, age at first use, and time since last use, duration of oral contraceptive use proved to be the prominent protective factor (compared with 10 years [hazard ratio, 0.37; 95% confidence interval, 0.19-0.73]; P(trend)=.008). The inverse association between duration of use and ovarian cancer risk persisted for more than 15 years (duration of ≥10 years; BRCA1 15 years since last use [hazard ratio, 0.56; 95% confidence interval, 0.18-0.59]). Univariate results for BRCA2 mutation carriers were similar but were inconclusive because of limited sample size. CONCLUSION: For BRCA1 mutation carriers, longer duration of oral contraceptive use is associated with a greater reduction in ovarian cancer risk, and the protection is long term.
Published: 2021
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17. Long-term survival in HER2-positive metastatic breast cancer treated with first-line trastuzumab: results from the french real-life curie database

Author: Matthieu Carton, J-Y Pierga, Irwin Piot, Etienne Brain, E. Kaczmarek, Alexia Savignoni, C. Saint-Martin, Emmanuelle Mouret-Fourme, Roman Rouzier, C. Dubot, Florence Lerebours, and Véronique Diéras
Subjects: 0301 basic medicine, Cancer Research, medicine.medical_specialty, Databases, Factual, Receptor, ErbB-2, medicine.medical_treatment, Breast Neoplasms, Kaplan-Meier Estimate, Disease, Logistic regression, computer.software_genre, 03 medical and health sciences, Antineoplastic Agents, Immunological, 0302 clinical medicine, Breast cancer, Trastuzumab, Epidemiology, medicine, Humans, skin and connective tissue diseases, neoplasms, Chemotherapy, Taxane, Database, business.industry, Middle Aged, medicine.disease, Metastatic breast cancer, Progression-Free Survival, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Female, business, computer, medicine.drug
Abstract: Background Outcome of HER2-positive metastatic breast cancer (MBC) patients has improved since the use of trastuzumab. However, most HER2-positive MBC patients will progress within 1 year of trastuzumab-based therapy. Only limited data are available concerning long-term responders. Methods The primary objective of this study was to compare overall survival (OS) of HER2+ MBC patients with long-term response to first-line trastuzumab with overall survival of those with non-long-term response, based on two institutional databases: the French Epidemiological Strategy and Medical Economics program and the Breast Database. Long-term responders (LTR) were defined as patients with non-progressive disease for ≥ 2 years on first-line trastuzumab. Secondary objectives included progression-free survival (PFS), and predictive factors for LTR status. Results From 2004 to 2014, 422 HER2-positive MBC patients received first-line trastuzumab. With a median follow-up of 48 months, median OS and PFS were 63 months (CI95%, 50-71), and 18 months (CI95%, 15-21) respectively. In 111 patients (26.3%) classified as LTR, median OS was 110 months (CI95%, 95-not reached) versus 56 months in non-LTR patients (CI95%, 47-68). In multivariate logistic regressions, the following factors were independently associated with LTR status: number of metastatic sites (≤ 2 versus > 2, p = 0.01); endocrine therapy for metastatic disease (p = 0.001) and taxane-based first-line chemotherapy (p = 0.003). Conclusion Several features are associated with long-term response to trastuzumab: few metastatic sites, taxane-based chemotherapy and maintenance endocrine therapy in HR+ patients. Further studies are needed to identify patients in whom trastuzumab can be stopped after several years of sustained response.
Published: 2019
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18. Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France

Author: Julien Mancini, Dominique Stoppa-Lyonnet, Claire Julian-Reynier, Jean-Pierre Fricker, Catherine Noguès, Anne-Déborah Bouhnik, Pascaline Berthet, Emmanuelle Mouret-Fourme, Thémis Apostolidis, Fatima Belén Gauna Cristaldo, Rajae Touzani, Christine Lasset, Laboratoire de Psychologie Sociale (LPS), Aix Marseille Université (AMU), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], Département de Génétique [Institut Curie, Paris] (Unité de Pharmacogénomique), Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), UFR Sciences Fondamentales et Biomédicales [Sciences] - Université Paris Cité, Université Paris Cité (UPCité), Santé publique - Oncogénétique [Lyon] (Centre Léon Bérard), Centre Léon Bérard [Lyon]-UNICANCER - Centre Léon Bérard Lyon (Rhône), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Service d'Oncologie Médicale [Strasbourg] (UNICANCER Centre Paul Strauss), Centre Paul Strauss : Centre Régional de Lutte contre le Cancer (CRLCC), Consultation d'Oncogénétique, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Biostatistique et technologies de l'information et de la communication (BioSTIC) - [Hôpital de la Timone - APHM] (BiosTIC ), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Université de Paris - UFR Sciences Fondamentales et Biomédicales [Sciences], Université de Paris (UP), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Apostolidis, Themistoklis, and Université Paris Cité - UFR Sciences Fondamentales et Biomédicales [Sciences]
Subjects: Male, Pediatrics, Genes, BRCA2, Genes, BRCA1, [SHS.PSY]Humanities and Social Sciences/Psychology, [SHS]Humanities and Social Sciences, 0302 clinical medicine, gender, family relationships, 030212 general & internal medicine, Generalized estimating equation, Response rate (survey), medicine.diagnostic_test, Middle Aged, 3. Good health, Psychiatry and Mental health, Oncology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Adult Children, Female, [SHS] Humanities and Social Sciences, France, Psychosocial, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Genetic counseling, Breast Neoplasms, Experimental and Cognitive Psychology, [SHS.PSY] Humanities and Social Sciences/Psychology, Young Adult, 03 medical and health sciences, children, BRCA1/2, medicine, Humans, cancer, Aged, Genetic testing, genetic counseling, Cancer prevention, business.industry, Cancer, Patient Acceptance of Health Care, medicine.disease, Mutation, Self Report, oncology, business
Abstract: International audience; Objective: Genetic counseling in at-risk families is known to improve cancer prevention. Our study aimed to determine the rate of uptake of genetic counseling among adult children of BRCA1/2 mutation carriers and to identify the potential psychosocial factors associated with uptake of genetic counseling.Methods: A self-reported questionnaire was mailed to 328 BRCA1/2 mutation carriers 10 years after BRCA1/2 test disclosure. Of the 233 carriers who returned the questionnaire (response rate = 71%), 135 reported having children over age 18 years and were therefore included in the analysis. Generalized estimating equations models were used to identify the factors associated with uptake of genetic counseling among adult children of mutation carriers.Results: Data were gathered for a total of 296 children (46% male, 54% female). The vast majority were informed about the familial mutation (90.9%) and 113 (38%; 95% CI, 32%-44%) underwent genetic counseling. This percentage exceeded 80% in women over 40 years. In the multivariate model, female sex, advanced age, mutation in the father, diagnosis of cancer in the mutation-carrying parent after genetic testing, and good family relationships were all factors associated with higher uptake of genetic counseling.Conclusions: Adult children of BRCA1/2 mutation carriers in France do not undergo genetic counseling sufficiently often. Further studies should be conducted on the psychosocial factors that hinder the uptake of genetic counseling among adult children of BRCA1/2 mutation carriers.
Published: 2019
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19. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Author: Marie-Noëlle Bonnet-Dupeyron, Helene Dreyfus, Nadia Boutry-Kryza, Cornel Popovici, Laurent Castera, Nancy Uhrhammer, Anthony Laugé, Yves-Jean Bignon, Hélène Delhomelle, Alice Fiévet, Christophe Guy, Noémie Bronnec, Bruno Buecher, Fabienne Prieur, Sophie Demontety, Vincent Goussot, Emmanuelle Mouret-Fourme, Claire Saule, Helene Zattara, Sarah Malsa, Paul Gesta, Cindy Meira, Erell Guillerm, Isabelle Turbiez, Agathe Ricou, Mélanie Léoné, Pierre Vande Perre, Sarab Lizard, Pascaline Berthet, Norbert Lignon, Adrien Buisson, Anne-Marie Birot, Philippe Denizeau, Etienne Rouleau, Odile Cohen-Haguenauer, Veronica Goldbarg, Virginie Moncoutier, Charlotte Benigni, Emmanuelle Barouk-Simonet, Flavie Boulouard, Caroline Jacquot-Sawka, Alice Yvard, Hakima Lallaoui, Veronica Cusin, Angélina Legros, Muriel Belotti, Christine Maugard, Marine Guillaud-Bataille, Jean-Marc Limacher, Marion Gauthier-Villars, Louise Crivelli, Afane Brahimi, Odile Cabaret, Ophelie Bertrand, Michel Longy, Gabrielle Le Guyadec, Doriane Livon, Amelie Bloucard, Dominique Stoppa-Lyonnet, Capucine Delnatte, Caroline Lecerf, Jennifer Carriere, Virginie Guibert, Véronique Mari, Anne-Sophie Allary, Florence Coulet, Françoise Bonnet, Paul Vilquin, Noémie Basset, Khadija Abidallah, Pierre Macquere, Nicolas Derive, Manon Boulaire, Stephanie Chieze-Valéro, Marine Le Mentec, Mathilde Gay-Bellile, Anne-Laure Conoy, Henri Margot, Pierre Devulder, Mathias Schwartz, Isabelle Tennevet, Stéphane Bézieau, Francesca Damiola, Violaine Bourdon, Audrey Mailliez, Zoe Nevière, Nicolas Viellard, Laurence Venat, Antoine De Pauw, Brigitte Bressac-de Paillerets, Agnès Hardouin, Sofiane Lacoste, Sandra Fert-Ferrer, Maud Privat, Helene Larbre, Dominique Vaur, Etienne Muller, Françoise Revillion, Clémentine Legrand, Rosette Lidereau, Laurence Gladieff, Sabine Raad, Jean Chiesa, Diane Molière, Ahmed Bouras, Nicolas Sevenet, Patrick R. Benusiglio, Sophie Giraud, Christine Toulas, Voreak Suybeng, Florine Oca, Tetsuro Noguchi, Catherine Dehainault, Sophie Lejeune, Céline Heude, Catherine Dubois d’Enghein, Thien-vu Nguyen Minh Tuan, Olivier Caron, Mathilde Warcoin, Christine Lasset, Claude Houdayer, Jessica Moretta-Serra, Julie Tinat, Hagay Sobol, Natalie Jones, Fanny Brayotel, Anne Fajac, Virginie Bubien, Maud Blanluet, Jean-Marc Rey, Anne Durlach, Sandrine M. Caputo, Isabelle Coupier, Fatoumata Simaga, Sophie Krieger, Catherine Noguès, Fabrice Airaud, Robin Fouillet, Celine Garrec, Valérie Bonadona, Julie Menjard, Bérengère Legendre, Chrystelle Colas, Christelle Berthemin, Camille Cohen, Caroline Abadie, Olivier Ingster, Audrey Remenieras, Anaïs Dupré, Jessica Le Gall, Lisa Golmard, Marie Bidart, Henrique Tenreiro, J Bombled, Marie-Charlotte Villy, Marie-Agnès Collonge-Rame, Sophie Dussart, Alain Lortholary, Lucie Salle, Samira Fekairi, Service de Génétique Oncologique, Institut Curie [Paris], Université Paris sciences et lettres (PSL), Département de Biologie des Tumeurs, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL), Centre Léon Bérard [Lyon], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Gustave Roussy (IGR), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut de biochimie et génétique cellulaires (IBGC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre de Références Cancers Rares (PREDIR), INCA, Institut national du cancer [Boulogne] (INCA), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO), Centre Hospitalier Universitaire de Reims (CHU Reims), dormoy, valerian, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
Subjects: Cosegregation, Genotype, [SDV]Life Sciences [q-bio], Breast Neoplasms, Biology, Article, 03 medical and health sciences, Likely benign, Genetics, medicine, Humans, Clinical significance, Genetic Predisposition to Disease, Genetic Testing, Uncertain significance, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, BRCA2 Protein, Ovarian Neoplasms, 0303 health sciences, Cancer predisposition, BRCA1 Protein, 030305 genetics & heredity, Cancer, Genetic Variation, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Classification methods, Female
Abstract: Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs. The classification method was a multifactorial model combining different associations between VUSs and cancer, including cosegregation data. At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUSs without cosegregation data. Of note, among the 34 variants classified as pathogenic by COVAR, 16 remained VUSs or likely pathogenic when following the ACMG/AMP variant classification guidelines. Although the initiation and organization of cosegregation analyses require a considerable effort, the growing number of available genetic tests results in an increasing number of families sharing a particular variant, and thereby increases the power of such analyses. Here we demonstrate that variant cosegregation analyses are a powerful tool for the classification of variants in the BRCA1/2 breast-ovarian cancer predisposition genes.
Published: 2021
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20. Co-occurrence of germline

Author: Marie-Charlotte, Villy, Emmanuelle, Mouret-Fourme, Lisa, Golmard, Véronique, Becette, Nasrine, Callet, Gilles, Marx, Chrystelle, Colas, Dominique, Lamarque, Etienne, Rouleau, and Dominique, Stoppa-Lyonnet
Subjects: Aged, 80 and over, Neoplasms, Multiple Primary, Antigens, CD, Stomach Neoplasms, Genes, BRCA1, Humans, Breast Neoplasms, Female, Cadherins, Medical History Taking, Germ-Line Mutation, Pedigree
Abstract: We report a very rare case of familial breast cancer and diffuse gastric cancer, with germline pathogenic variants in bothA large deletion ofThis complex situation is challenging for genetic counselling and management of at-risk individuals.
Published: 2020

21. Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Author: Henriette Roed Nielsen, Judith Balmaña, Anne-Marie Gerdes, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Douglas F. Easton, Linda Steele, Ava Kwong, Sung Won Kim, Bjarni A. Agnarsson, Piera Rizzolo, Angela R. Solano, Mads Thomassen, Johannes Lemke, Grazia Artioli, Heli Nevanlinna, Johanna I. Kiiski, Frans B. L. Hogervorst, Jong Won Lee, Diana Eccles, Mark H. Greene, Marc Tischkowitz, David E. Goldgar, Angela R. Bradbury, Javier Benitez, Marie Navratilova, Dominique Stoppa-Lyonnet, Arjen R. Mensenkamp, Alfons Meindl, Zisun Kim, Nadine Tung, Agnes Jager, Matthew L. Freedman, Ana Osorio, Norbert Arnold, Doris Steinemann, Inge Søkilde Pedersen, Patricia Llovet, Rob B. van der Luijt, Vivek L Patel, Munaza Ahmed, Lidia Moserle, Irene Konstantopoulou, Jackie Cook, Jacques Simard, Joan Brunet, Johanna Rantala, Kai-ren Ong, Carole Brewer, Joe Dennis, Sook-Yee Yoon, Hanne Meijers-Heijboer, Roberta Villa, Katie Snape, Louise Izatt, Ana Peixoto, Susan M. Domchek, Nina Ditsch, D. Gareth Evans, Tara M. Friebel, Sue K. Park, Katherine L. Nathanson, Lenka Foretova, Miguel Angel Pujana, Edith Olah, Hélène Schuster, Raymonda Varon-Mateeva, Silvia Tognazzo, Payal D. Shah, Oskar T. Johannsson, Hans Ehrencrona, Paul Gesta, Ian G. Campbell, Drakoulis Yannoukakos, Mirjam Larsen, Anthony V. D'Amico, Liene Nikitina-Zake, Davide Bondavalli, Valérie Bonadona, Paul A. James, Alan Donaldson, Antonis C. Antoniou, Bernd Auber, Andrew K. Godwin, Denise Molina Gomes, Jihyoun Lee, Laurence Faivre, Almuth Caliebe, Pilar Garre, Siddhartha Yadav, Julika Borde, Pedro Pérez-Segura, Birgitte Bertelsen, Paolo Peterlongo, Michael T. Parsons, John L. Hopper, Bruno Buecher, Goska Leslie, Shan Wang-Gohrke, Amanda B. Spurdle, T.M. Mooij, Juliane Ramser, kConFab Investigators, Lídia Feliubadaló, Susanne E. Boonen, Bernard Peissel, Anna von Wachenfeldt, Timothy R. Rebbeck, Christi J. van Asperen, Víctor Lorca, Estela Carrasco, Elisa Alducci, Ulrike Faust, Karin Kast, Gord Glendon, Saundra S. Buys, Fergus J. Couch, Mariarosaria Calvello, Istvan Bodrogi, Kathryn J. Ruddy, Philipp Wagner, Fabienne Lesueur, Evan L. Busch, Hebon Investigators, Laura Cortesi, Christian F. Singer, Ute Hamann, Giuseppe Damante, Stefania Tommasi, Esther M. John, Jacopo Azzollini, Cristina Zanzottera, Angelica M. Gutierrez-Barrera, Emmanuelle Mouret-Fourme, Claire Saule, Rosa B. Barkardottir, Kristin K. Zorn, Kerstin Rhiem, Uffe Birk Jensen, Mark Pomerantz, Yuan Chun Ding, Alison H. Trainer, Marco Montagna, Vijai Joseph, Domenico Palli, Kwang-Pil Ko, Angel M. Cronin, Susan L. Neuhausen, Dieter Niederacher, Laura Ottini, Angela Toss, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Caroline M. Seynaeve, Ileana Carnevali, Adalgeir Arason, Rosalind A. Eeles, Annie T W Chu, Florentia Fostira, Greet Wieme, Brita Arver, Charlotte Kvist Lautrup, Christoph Engel, Marion Gauthier-Villars, Daniel Barrowdale, Caroline Maria Rossing, Kenneth Offit, Kathleen Claes, Olufunmilayo I. Olopade, Penny Soucy, Alicia Barroso, Manuel R. Teixeira, Wendy K. Chung, Gero Kramer, Tsun Leung Chan, Agostina Stradella, Debra Frost, Noura Mebirouk, Liselotte P. van Hest, Esther Darder, Valentina Silvestri, Annabeth Høgh Petersen, Lesley McGuffog, Andrea Gehrig, Mary Porteous, Matti A. Rookus, Lizet E. van der Kolk, Siranoush Manoukian, Lone Sunde, Conxi Lázaro, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Claus-Eric Ott, Christian Sutter, Paolo Radice, Veronica Medici, Georgia Chenevix-Trench, Vanesa García-Barberán, Kristiina Aittomäki, Amanda E. Toland, Anna Marie Mulligan, Véronique Mari, Bernd Dworniczak, Lynn Martin, Lara Della Puppa, Phuong L. Mai, George Fountzilas, Yen Y. Tan, Simona Agata, Torben A Kruse, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Thomas Dyrso Jensen, Åke Borg, Mark E. Robson, Jennifer T. Loud, Vivian Y. Shin, Irene López-Perolio, Leigha Senter, Irene L. Andrulis, Rosa Scarpitta, Angela F. Brady, Annika Lindblom, Diana Torres, Lotte Nylandsted Krogh, Barbara Wappenschmidt, Muhammad Rashid, Jeroen Vierstraete, Mary B. Daly, Annelie Liljegren, Frederieke H. van der Baan, Eunyoung Kang, Alessandra Viel, Santiago Cabezas-Camarero, Eric Hahnen, Laura Matricardi, Marinus J. Blok, Edmond S. K. Ma, Maria Grazia Tibiletti, Catarina Santos, Julian Adlard, Soo Hwang Teo, Giuseppe Giannini, Jan Hauke, Peter J. Hulick, Miguel de la Hoya, Clare Miller, Bernardo Bonanni, Bent Ejlertsen, Lajos Géczi, Liliana Varesco, Orland Diez, N Herold, Christine Lasset, Adrià López-Fernández, Min Hyuk Lee, Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Clinicum, Department of Obstetrics and Gynecology, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Medical Oncology, Academic Medical Center, ARD - Amsterdam Reproduction and Development, Leslie, Goska [0000-0001-5756-6222], Adlard, Julian [0000-0002-1693-0435], Arnold, Norbert [0000-0003-4523-8808], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Barnes, Daniel R [0000-0002-3781-7570], Brunet, Joan [0000-0003-1945-3512], Caligo, Maria A [0000-0003-0589-1829], Campbell, Ian G [0000-0002-7773-4155], Claes, Kathleen BM [0000-0003-0841-7372], Darder, Esther [0000-0002-7764-1397], Dennis, Joe [0000-0003-4591-1214], Dworniczak, Bernd [0000-0003-4981-7903], Eeles, Rosalind A [0000-0002-3698-6241], Ehrencrona, Hans [0000-0002-5589-3622], Ejlertsen, Bent [0000-0001-8761-714X], Evans, D Gareth [0000-0002-8482-5784], Garre, Pilar [0000-0001-8285-4138], Greene, Mark H [0000-0003-1852-9239], Hulick, Peter J [0000-0001-8397-4078], Jager, Agnes [0000-0002-7713-1450], James, Paul [0000-0002-4361-4657], John, Esther M [0000-0003-3259-8003], Joseph, Vijai [0000-0002-7933-151X], Kim, Sung-Won [0000-0002-1413-2800], Kim, Zisun [0000-0002-1413-2800], Konstantopoulou, Irene [0000-0002-0470-0309], Lesueur, Fabienne [0000-0001-7404-4549], Matricardi, Laura [0000-0002-0241-1810], Gomes, Denise Molina [0000-0002-2836-9008], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I [0000-0002-9936-1599], Palli, Domenico [0000-0002-5558-2437], Park, Sue K [0000-0001-5002-9707], Parsons, Michael T [0000-0003-3242-8477], Peterlongo, Paolo [0000-0001-6951-6855], Petersen, Annabeth Høgh [0000-0002-4503-6942], Pujana, Miguel Angel [0000-0003-3222-4044], Ruddy, Kathryn J [0000-0001-6298-332X], Scarpitta, Rosa [0000-0001-7590-3827], Shah, Payal D [0000-0001-5874-3390], Silvestri, Valentina [0000-0003-0712-9379], Southey, Melissa C [0000-0002-6313-9005], Spurdle, Amanda B [0000-0003-1337-7897], Stoppa-Lyonnet, Dominique [0000-0002-5438-8309], Sunde, Lone [0000-0002-8479-165X], Teixeira, Manuel R [0000-0002-4896-5982], Teo, Soo Hwang [0000-0002-0444-590X], Tommasi, Stefania [0000-0002-2157-2978], Toss, Angela [0000-0002-1854-6701], van der Luijt, Rob B [0000-0002-0018-1089], Vierstraete, Jeroen [0000-0001-7909-6620], Wieme, Greet [0000-0003-2718-5300], Yadav, Siddhartha [0000-0003-4630-9903], Antoniou, Antonis C [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Human genetics, and CCA - Cancer biology and immunology
Subjects: Male, 0301 basic medicine, Oncology, Cancer Research, endocrine system diseases, PHENOTYPE, INCREASE, Prostate cancer, 0302 clinical medicine, Risk Factors, Young adult, skin and connective tissue diseases, Aged, 80 and over, Prostate cancer risk, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MESSENGER-RNA DECAY, BRCA1 Protein, Genomics, GERMLINE MUTATIONS, Middle Aged, Prognosis, OVARIAN, CARRIERS, 3. Good health, 030220 oncology & carcinogenesis, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Tumor suppressor gene, Urology, Association (object-oriented programming), 3122 Cancers, MEDLINE, Article, Young Adult, 03 medical and health sciences, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, BRCA1, BRCA2, Prostate Cancer, Pathogenic sequence variant location, Risk estimation, Journal Article, Genetic predisposition, medicine, Humans, BREAST-CANCER, Genetic Predisposition to Disease, Risk factor, Genetic Association Studies, Aged, BRCA2 Protein, IDENTIFICATION, business.industry, Prostatic Neoplasms, medicine.disease, GENE, Confidence interval, APC, 030104 developmental biology, Mutation, 3111 Biomedicine, business
Abstract: Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3′ region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25–2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63–5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71–4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12–11.54; P = 0.0002). No genotype–phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.
Published: 2020
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22. Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing

Author: Pascaline Berthet, Rajae Touzani, Julien Mancini, Emmanuelle Mouret-Fourme, Jaïs Troïan, Claire Julian-Reynier, Dominique Stoppa-Lyonnet, Catherine Noguès, Anne-Déborah Bouhnik, Christine Lasset, Thémis Apostolidis, Laboratoire de Psychologie Sociale (LPS), Aix Marseille Université (AMU), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Santé Publique, Institut Curie [Paris]-Hôpital René HUGUENIN (Saint-Cloud), Pathologie moléculaire des cancers, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Consultation d'Oncogénétique, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Soins contre le Cancer, Institut Curie [Paris]-Fédération Hospitalière de France (FHF)-Hôpital René HUGUENIN (Saint-Cloud), Apostolidis, Themistoklis, Hôpital René HUGUENIN (Saint-Cloud)-Institut Curie [Paris], UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), and Hôpital René HUGUENIN (Saint-Cloud)-Fédération Hospitalière de France (FHF)-Institut Curie [Paris]
Subjects: Oncology, medicine.medical_specialty, Offspring, [SDV]Life Sciences [q-bio], National cohort, 03 medical and health sciences, Brca1 2 mutation, 0302 clinical medicine, Internal medicine, medicine, 030212 general & internal medicine, Applied Psychology, ComputingMilieux_MISCELLANEOUS, Genetic testing, Cancer prevention, medicine.diagnostic_test, business.industry, 3. Good health, 030227 psychiatry, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Clinical Psychology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Mutation (genetic algorithm), Cohort, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract: The disclosure of genetic information is an important issue in cancer prevention. This study based on a French national cohort of BRCA1/2 mutation carriers (GENEPSO-PS cohort, N=233) aimed to asses...
Published: 2020
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23. Background parenchymal enhancement and fibroglandular tissue on breast MRI in women with high genetic risk: Are changes before and after risk-reducing salpingo-oophorectomy associated with breast cancer risk?

Author: Delphine Sebbag-Sfez, Caroline Malhaire, Cécile Bermot, Emmanuelle Mouret-Fourme, Fabienne Thibault, Caroline Saint-Martin, and Matthieu Carton
Subjects: Adult, Oncology, medicine.medical_specialty, medicine.medical_treatment, Genes, BRCA2, Genes, BRCA1, Salpingo-oophorectomy, Breast Neoplasms, 030218 nuclear medicine & medical imaging, Cohort Studies, 03 medical and health sciences, Postoperative Complications, 0302 clinical medicine, Breast cancer, Risk Factors, Internal medicine, Parenchyma, medicine, Humans, Breast MRI, Genetic Predisposition to Disease, Radiology, Nuclear Medicine and imaging, Clinical significance, Breast, Genetic risk, skin and connective tissue diseases, Aged, Retrospective Studies, medicine.diagnostic_test, business.industry, Hazard ratio, Oophorectomy, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Radiography, 030220 oncology & carcinogenesis, Cohort, Female, business
Abstract: Background Parenchymal enhancement and fibroglandular tissue on breast MRI in women with high genetic risk: are changes before and after risk-reducing salpingo-oophorectomy associated with breast cancer risk? Objective To evaluate changes in the level of background parenchymal enhancement (BPE) and amount of fibroglandular tissue (FGT) on breast MRI before and after risk-reducing oophorectomy (RRSO), and to determine whether these changes correlate with ultimate breast cancer risk. Materials and methods The cohort included 146 women with high genetic risk who had undergone pre- and post-RRSO breast MRI. BPE level and FGT amount were retrospectively graded according to BI-RADS classification. Initial values and changes were compared in women with or without later breast cancer after RRSO. Hazard ratios (HR) were estimated using Cox univariate models. Results Patients with initial moderate (BI-RADS C category) BPE had a higher risk of subsequent breast cancer of HR = 3.9 (95% CI [1.1–14.3]; p = 0.04) compared to patients with initial minimal (BI-RADS A) BPE. A categorical BPE decrease after RRSO, versus no change, was associated with a higher cancer risk (HR 2.2, 95% CI [1.04–4.8]; p = 0.04). Initially dense (BI-RADS 3 category) FGT correlated with an increased cancer risk compared to fatty (BI-RADS 1 category) parenchyma (HR 8.3, 95% CI [1.1–64]; p = 0.04). After RRSO, there was a trend for higher cancer risk related to a categorical FGT decrease (HR 2.3, 95% CI [0.9–35.4]; p = 0.06). Conclusion Patients in whom BPE decreases after RRSO might be at higher risk of subsequent breast cancer compared to patients with stable BPE. This finding is consistent with the concept of increased risk associated with high initial BPE, which could be of higher clinical relevance than post-RRSO BPE reduction. A similar trend was observed with high initial FGT.
Published: 2018
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24. Abstract P5-21-14: Long-term survival in HER2-positive metastatic breast cancer treated with first-line trastuzumab: Real-life results from the Curie ESME database

Author: Gaëtane Simon, Alexia Savignoni, E. Brain, E. Kaczmarek, J-Y Pierga, Emmanuelle Mouret-Fourme, Coraline Dubot, Roman Rouzier, Florence Lerebours, Matthieu Carton, and C. Saint-Martin
Subjects: Oncology, Cancer Research, medicine.medical_specialty, Univariate analysis, Chemotherapy, Taxane, business.industry, medicine.medical_treatment, Cancer, medicine.disease, Metastatic breast cancer, Breast cancer, Trastuzumab, Internal medicine, medicine, skin and connective tissue diseases, business, Progressive disease, medicine.drug
Abstract: Background About 20% of breast cancer (BC) patients will develop distant metastases. HER2-positive (HER2+) disease is associated with poorer prognosis. However, outcome of HER2+ BC patients has dramatically improved since the use of trastuzumab. Although most HER2+ metastatic BC (MBC) patients will eventually develop progressive disease within one year of trastuzumab-based treatment, some are long-term responders (LTR). Few data on these patients are available. Methods The primary objective was to assess overall survival (OS) of HER2+ MBC patients treated with trastuzumab as 1st-line at the Institut Curie, based on institution-specific data included in the French Epidemiological Strategy and Medical Economics (ESME) program for MBC patients established in 2014 by Unicancer. Long-term responders (LTR) were defined as having a non-progressive disease for at least 2 years under 1st-line trastuzumab. Secondary objectives included progression-free survival (PFS), disease-free interval (DFI), prediction factors for LTR status by univariate and multivariate analysis: characteristics of patients (age, BMI, menopausal status), of primary tumour (e.g. hormone receptor (HR) status), of treatment (e.g. endocrine therapy, partner for trastuzumab combination), number and type of metastases. Results From 2008 to 2014, 2990 MBC patients were identified in the Curie-ESME MBC database. Of these, 460 had HER2+ disease. Sixteen patients with second primary malignancy were excluded. Of the 444 remaining patients, 340 received 1st-line trastuzumab and could be analyzed. With a 42.5-month median follow-up time, the mean age at metastatic diagnosis was 55.7 years, 59.4% had a HR-positive disease and 43.2% had de novo metastases or occurring within 6 months after adjuvant treatment. DFI was >24 months in 47.9% of patients, and 78.5% received 1st-line trastuzumab combined with taxane-based chemotherapy (CT). In 87 patients (25.6%) classified as LTR, median PFS was 56.2 months (CI95% 41.53-not reached) vs. 10.9 months in non-LTR (CI95% 9.46-11.8). Median OS in LTR is not reached versus 44.3 months in non-LTR (CI95% 37.9-49.1). Median age, menopausal status, BMI, pathological characteristics and treatment for primary BC were similar in both groups. The following factors were predictive of LTR status by univariate analysis: number of metastatic sites ( 3, p=0.022); endocrine treatment for metastatic disease (p=0.002); absence of central nervous system metastases (p=0.035); and taxane-based 1st- line CT (p=0.032). In multivariate analysis, only number of metastatic sites and taxane-based 1st-line CT were predictive of LTR status. In contrast, age, DFI, visceral disease, and adjuvant trastuzumab-based treatment did not influence outcome. Although not statistically significant, HR+ status was more frequent in LTR versus non-LTR patients (66.7% versus 56.9%). Conclusions With a median follow-up of 42.5 months, we found that more than 95% of LTR to 1st-line trastuzumab were still alive and could achieve a median PFS longer than 4.6 years. Although some clinical factors are clearly associated with better outcome, further investigations are needed to identify the mechanisms of resistance or sensitivity to trastuzumab. Citation Format: Kaczmarek E, Saint-Martin C, Pierga J-Y, Brain E, Rouzier R, Dubot C, Savignoni A, Mouret-Fourme E, Simon G, Carton M, Lerebours F. Long-term survival in HER2-positive metastatic breast cancer treated with first-line trastuzumab: Real-life results from the Curie ESME database [abstract]. In: Proceedings of the 2017 San Antonio Breast Cancer Symposium; 2017 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2018;78(4 Suppl):Abstract nr P5-21-14.
Published: 2018
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25. Parental disclosure of positive

Author: Jaïs, Troïan, Thémis, Apostolidis, Rajae, Touzani, Emmanuelle, Mouret-Fourme, Dominique, Stoppa-Lyonnet, Christine, Lasset, Pascaline, Berthet, Claire, Julian-Reynier, Julien, Mancini, Catherine, Noguès, and Anne-Déborah, Bouhnik
Subjects: Adult, Male, Parents, Adolescent, Ovariectomy, Genes, BRCA2, Genes, BRCA1, Disclosure, Prophylactic Surgical Procedures, Middle Aged, Cohort Studies, Young Adult, Prophylactic Mastectomy, Sex Factors, Mutation, Adult Children, Hereditary Breast and Ovarian Cancer Syndrome, Humans, Female, France, Genetic Testing, Child, Aged
Abstract: The disclosure of genetic information is an important issue in cancer prevention. This study based on a French national cohort of
Published: 2019

26. Association of Genomic Domains in

Author: Vivek L, Patel, Evan L, Busch, Tara M, Friebel, Angel, Cronin, Goska, Leslie, Lesley, McGuffog, Julian, Adlard, Simona, Agata, Bjarni A, Agnarsson, Munaza, Ahmed, Kristiina, Aittomäki, Elisa, Alducci, Irene L, Andrulis, Adalgeir, Arason, Norbert, Arnold, Grazia, Artioli, Brita, Arver, Bernd, Auber, Jacopo, Azzollini, Judith, Balmaña, Rosa B, Barkardottir, Daniel R, Barnes, Alicia, Barroso, Daniel, Barrowdale, Muriel, Belotti, Javier, Benitez, Birgitte, Bertelsen, Marinus J, Blok, Istvan, Bodrogi, Valérie, Bonadona, Bernardo, Bonanni, Davide, Bondavalli, Susanne E, Boonen, Julika, Borde, Ake, Borg, Angela R, Bradbury, Angela, Brady, Carole, Brewer, Joan, Brunet, Bruno, Buecher, Saundra S, Buys, Santiago, Cabezas-Camarero, Trinidad, Caldés, Almuth, Caliebe, Maria A, Caligo, Mariarosaria, Calvello, Ian G, Campbell, Ileana, Carnevali, Estela, Carrasco, Tsun L, Chan, Annie T W, Chu, Wendy K, Chung, Kathleen B M, Claes, Gemo Study, Collaborators, Embrace, Collaborators, Jackie, Cook, Laura, Cortesi, Fergus J, Couch, Mary B, Daly, Giuseppe, Damante, Esther, Darder, Rosemarie, Davidson, Miguel, de la Hoya, Lara Della, Puppa, Joe, Dennis, Orland, Díez, Yuan Chun, Ding, Nina, Ditsch, Susan M, Domchek, Alan, Donaldson, Bernd, Dworniczak, Douglas F, Easton, Diana M, Eccles, Rosalind A, Eeles, Hans, Ehrencrona, Bent, Ejlertsen, Christoph, Engel, D Gareth, Evans, Laurence, Faivre, Ulrike, Faust, Lídia, Feliubadaló, Lenka, Foretova, Florentia, Fostira, George, Fountzilas, Debra, Frost, Vanesa, García-Barberán, Pilar, Garre, Marion, Gauthier-Villars, Lajos, Géczi, Andrea, Gehrig, Anne-Marie, Gerdes, Paul, Gesta, Giuseppe, Giannini, Gord, Glendon, Andrew K, Godwin, David E, Goldgar, Mark H, Greene, Angelica M, Gutierrez-Barrera, Eric, Hahnen, Ute, Hamann, Jan, Hauke, Natalie, Herold, Frans B L, Hogervorst, Ellen, Honisch, John L, Hopper, Peter J, Hulick, KConFab, Investigators, Hebon, Investigators, Louise, Izatt, Agnes, Jager, Paul, James, Ramunas, Janavicius, Uffe Birk, Jensen, Thomas Dyrso, Jensen, Oskar Th, Johannsson, Esther M, John, Vijai, Joseph, Eunyoung, Kang, Karin, Kast, Johanna I, Kiiski, Sung-Won, Kim, Zisun, Kim, Kwang-Pil, Ko, Irene, Konstantopoulou, Gero, Kramer, Lotte, Krogh, Torben A, Kruse, Ava, Kwong, Mirjam, Larsen, Christine, Lasset, Charlotte, Lautrup, Conxi, Lazaro, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lee, Johannes, Lemke, Fabienne, Lesueur, Annelie, Liljegren, Annika, Lindblom, Patricia, Llovet, Adria, Lopez-Fernández, Irene, Lopez-Perolio, Victor, Lorca, Jennifer T, Loud, Edmond S K, Ma, Phuong L, Mai, Siranoush, Manoukian, Veronique, Mari, Lynn, Martin, Laura, Matricardi, Noura, Mebirouk, Veronica, Medici, Hanne E J, Meijers-Heijboer, Alfons, Meindl, Arjen R, Mensenkamp, Clare, Miller, Denise Molina, Gomes, Marco, Montagna, Thea M, Mooij, Lidia, Moserle, Emmanuelle, Mouret-Fourme, Anna Marie, Mulligan, Katherine L, Nathanson, Marie, Navratilova, Heli, Nevanlinna, Dieter, Niederacher, Finn C Cilius, Nielsen, Liene, Nikitina-Zake, Kenneth, Offit, Edith, Olah, Olufunmilayo I, Olopade, Kai-Ren, Ong, Ana, Osorio, Claus-Eric, Ott, Domenico, Palli, Sue K, Park, Michael T, Parsons, Inge Sokilde, Pedersen, Bernard, Peissel, Ana, Peixoto, Pedro, Pérez-Segura, Paolo, Peterlongo, Annabeth Høgh, Petersen, Mary E, Porteous, Miguel Angel, Pujana, Paolo, Radice, Juliane, Ramser, Johanna, Rantala, Muhammad U, Rashid, Kerstin, Rhiem, Piera, Rizzolo, Mark E, Robson, Matti A, Rookus, Caroline M, Rossing, Kathryn J, Ruddy, Catarina, Santos, Claire, Saule, Rosa, Scarpitta, Rita K, Schmutzler, Hélène, Schuster, Leigha, Senter, Caroline M, Seynaeve, Payal D, Shah, Priyanka, Sharma, Vivian Y, Shin, Valentina, Silvestri, Jacques, Simard, Christian F, Singer, Anne-Bine, Skytte, Katie, Snape, Angela R, Solano, Penny, Soucy, Melissa C, Southey, Amanda B, Spurdle, Linda, Steele, Doris, Steinemann, Dominique, Stoppa-Lyonnet, Agostina, Stradella, Lone, Sunde, Christian, Sutter, Yen Y, Tan, Manuel R, Teixeira, Soo Hwang, Teo, Mads, Thomassen, Maria Grazia, Tibiletti, Marc, Tischkowitz, Silvia, Tognazzo, Amanda E, Toland, Stefania, Tommasi, Diana, Torres, Angela, Toss, Alison H, Trainer, Nadine, Tung, Christi J, van Asperen, Frederieke H, van der Baan, Lizet E, van der Kolk, Rob B, van der Luijt, Liselotte P, van Hest, Liliana, Varesco, Raymonda, Varon-Mateeva, Alessandra, Viel, Jeroen, Vierstraete, Roberta, Villa, Anna, von Wachenfeldt, Philipp, Wagner, Shan, Wang-Gohrke, Barbara, Wappenschmidt, Jeffrey N, Weitzel, Greet, Wieme, Siddhartha, Yadav, Drakoulis, Yannoukakos, Sook-Yee, Yoon, Cristina, Zanzottera, Kristin K, Zorn, Anthony V, D'Amico, Matthew L, Freedman, Mark M, Pomerantz, Georgia, Chenevix-Trench, Antonis C, Antoniou, Susan L, Neuhausen, Laura, Ottini, Henriette Roed, Nielsen, and Timothy R, Rebbeck
Subjects: Adult, Aged, 80 and over, BRCA2 Protein, Male, Heterozygote, Adolescent, BRCA1 Protein, Prostatic Neoplasms, Genomics, Middle Aged, Prognosis, Young Adult, Risk Factors, Mutation, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Aged
Abstract: Pathogenic sequence variants (PSV) in
Published: 2019

27. Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers

Author: Dominique Stoppa-Lyonnet, Bruno Buecher, Alice Fievet, Antoine De Pauw, Chrystelle Colas, Emmanuelle Mouret-Fourme, Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université Paris Descartes - Paris 5 (UPD5)
Subjects: Male, Heterozygote, Colorectal cancer, media_common.quotation_subject, [SDV]Life Sciences [q-bio], Nonsense, MEDLINE, Breast Neoplasms, Bioinformatics, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Text mining, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Frameshift Mutation, 030304 developmental biology, media_common, Ovarian Neoplasms, 0303 health sciences, Endodeoxyribonucleases, Hepatology, business.industry, FAN1, Gastroenterology, Computational Biology, High-Throughput Nucleotide Sequencing, Heterozygote advantage, medicine.disease, Multifunctional Enzymes, Pedigree, Exodeoxyribonucleases, Codon, Nonsense, 030220 oncology & carcinogenesis, Female, business, Colorectal Neoplasms
Published: 2019
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28. Phase I feasibility study for intrathecal administration of trastuzumab in patients with HER2 positive breast carcinomatous meningitis

Author: Coraline Dubot, S. Taillibert, Maya Gutierrez, P. Tresca, Emilie Le Rhun, Christophe Passot, Céline Desvignes, Gilles Paintaud, Jacques Li, Claire Bonneau, Isabelle Turbiez, Olivier Tredan, Fawzia Mefti, Emmanuelle Mouret-Fourme, Véronique Diéras, Hôpital René Huguenin [Institut Curie, Saint-Cloud], Génétique, immunothérapie, chimie et cancer (GICC), UMR 7292 CNRS [2012-2017] (GICC UMR 7292 CNRS), Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Centre Léon Bérard [Lyon], Hôpital Claudius Regaud [Institut Curie, Paris], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Institut Curie [Paris], Clinique de la Porte verte [Versailles], Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 (PRISM), Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), SALZET, Michel, Groupe innovation et ciblage cellulaire (GICC), EA 7501 [2018-...] (GICC EA 7501), Université de Tours (UT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Tours-Centre National de la Recherche Scientifique (CNRS), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: 0301 basic medicine, Adult, Cancer Research, medicine.medical_specialty, Maximum Tolerated Dose, Nausea, Receptor, ErbB-2, Intrathecal therapy, [SDV]Life Sciences [q-bio], Breast Neoplasms, Gastroenterology, Drug Administration Schedule, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Breast cancer, Trastuzumab, Internal medicine, medicine, Humans, skin and connective tissue diseases, neoplasms, Injections, Spinal, Aged, Dose-Response Relationship, Drug, business.industry, Middle Aged, medicine.disease, Metastatic breast cancer, 3. Good health, [SDV] Life Sciences [q-bio], Regimen, 030104 developmental biology, Meningeal carcinomatosis, Oncology, 030220 oncology & carcinogenesis, Vomiting, Feasibility Studies, Female, medicine.symptom, business, Meningeal Carcinomatosis, Carcinomatous meningitis, Progressive disease, medicine.drug
Abstract: Purpose Leptomeningeal carcinomatosis (MC) is commonly associated with HER2-positive breast cancer (HER2-BC), with a poor prognosis and no standardised treatment. We conducted a phase I dose-escalation study of intrathecal (IT) administration of trastuzumab in HER2-BC patients with MC to determine the maximum tolerated dose (MTD), which was based on both the achievement of a trastuzumab intra-cerebrospinal fluid concentration close to a conventional therapeutic plasma concentration (30 mg/L) and/or dose-limiting toxicity (DLT). Methods The protocol planned IT administration of trastuzumab (30 mg, 60 mg, 100 mg or 150 mg dose levels) once a week, over the course of at least 4 weeks. Sixteen patients with MC from HER2-BC received IT trastuzumab. Intra-cerebrospinal fluid samples were obtained before each injection for pharmacokinetics. Results We did not observe DLT of IT trastuzumab. Eleven patients had no toxicity attributed to IT trastuzumab. For 60 mg or higher dose levels, minor toxicities attributed to IT trastuzumab included headache (2 patients), nausea (2 patients), vomiting (1 patient), cervical pain (1 patient) and peripheral neuropathy (1 patient). Two patients experienced immediate toxicity including headache or vomiting. The mean residual intra-cerebrospinal fluid concentration of trastuzumab was 27.9 mg/L for the 150 mg dose level. Three patients achieved a clinical response, seven patients had stable disease and four patients had progressive disease. Conclusions The MTD and recommended phase II weekly dose of IT trastuzumab in patients with HER2-BC and MC is 150 mg. A phase II trial using this dose regimen in MC from HER2-BC is ongoing. Registration identification ClinicalTrials.gov Identifier: NCT01373710 ( https://clinicaltrials.gov/ct2/show/NCT01373710?term=trastuzumab+intrathecal&rank=1 ).
Published: 2018
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29. Efficacy of anthracycline/taxane-based neo-adjuvant chemotherapy on triple-negative breast cancer in BRCA1 / BRCA2 mutation carriers

Author: Véronique Mari, Catherine Noguès, Paul Gesta, Laurence Faivre, Thierry Petit, Jean-Pierre Fricker, Christine Lasset, Michel Velten, Emmanuelle Mouret-Fourme, Lucie Bignon, Alain Lortholary, Akila Hamimi, Laurence Gladieff, Olivier Caron, Dominique Stoppa-Lyonnet, Département de médecine oncologique, CRLCC Paul Strauss, CRLCC René Huguenin, Département de Biologie des Tumeurs, Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR), Centre Catherine-de-Sienne [Nantes] (CCS), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Léon Bérard [Lyon], Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), Institut Claudius Regaud, Hôpital René HUGUENIN (Saint-Cloud), Département d'Oncologie et Hématologie [Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Progression tumorale et microenvironnement. Approches translationnelles et épidémiologie, Université de Strasbourg (UNISTRA)-CHU Strasbourg-Les Hôpitaux Universitaires de Strasbourg (HUS)-Institut Régional du Cancer-Centre Paul Strauss : Centre Régional de Lutte contre le Cancer (CRLCC), université de Bourgogne, LNC, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut Curie, Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc (CRLCC - CGFL), Centre Antoine Lacassagne, CRLCC Antoine Lacassagne, and CRLCC Institut Claudius Regaud
Subjects: 0301 basic medicine, Oncology, medicine.medical_treatment, neo-adjuvant chemotherapy, BRCA2 mutation, Triple Negative Breast Neoplasms, Docetaxel, 0302 clinical medicine, Antineoplastic Combined Chemotherapy Protocols, Anthracyclines, skin and connective tissue diseases, Triple-negative breast cancer, BRCA1 Protein, Middle Aged, Neoadjuvant Therapy, 3. Good health, prognostic significance, Treatment Outcome, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), triple-negative breast cancer, Female, Adult, Heterozygote, medicine.medical_specialty, Paclitaxel, Anthracycline, [SDV.CAN]Life Sciences [q-bio]/Cancer, Disease-Free Survival, 03 medical and health sciences, pathologic complete response, Breast cancer, BRCA1 mutation, [SDV.CAN] Life Sciences [q-bio]/Cancer, Internal medicine, Internal Medicine, medicine, Humans, Neo adjuvant chemotherapy, Brca1 gene, BRCA2 Protein, Chemotherapy, Taxane, business.industry, medicine.disease, 030104 developmental biology, Mutation, Surgery, business
Abstract: IF 2.424; International audience; This study aims to estimate the pathologic complete response (pCR) rate after neo-adjuvant chemotherapy and to compare disease-free survival (DFS) and overall survival (OS) between pCR and non-pCR groups of patients with triple-negative breast cancer (TNBC) and deleterious BRCA1 or BRCA2 mutation. We carried out a retrospective analysis of 53 patients including 46 BRCA1, 6 BRCA2, and 1 combined BRCA1 and BRCA2 mutation. All patients had been diagnosed with triple-negative breast cancer (TNBC) between 1997 and 2014. Neo-adjuvant therapy consisted of regimens that were based on anthracycline or an anthracycline-taxane doublet. DFS included any relapse or second cancer. The Kaplan-Meier method and the log-rank test were used to compare pCR and non-pCR groups. A pCR was observed in 23 (42.6% [95% CI, 29.2%-56.8%]) of the TNBC included. The pCR rate was 38.3% [95% CI, 26%-55%] among BRCA1 mutation carriers, and 66% among the 6 BRCA2 mutation carriers. Median follow-up was 4.4 years (range 0.62-16.2 years) and did not differ between the groups (P = .25). Fifteen relapses and six second cancers were recorded during the follow-up period. Eleven deaths occurred, all of which were in the non-pCR group. DFS (P
Published: 2018
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30. Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

Author: Christian F. Singer, Louise Izatt, Yen Y. Tan, Emmanuelle Mouret-Fourme, Embrace, Genepso, Bcfr, Hebon, kConFab, Marie Navratilova, Lucy Side, Trinidad Caldés, Rosemarie Davidson, Kelly-Anne Phillips, Saundra S. Buys, Dominique Leroux, Mary B. Daly, Melissa C. Southey, Marian J.E. Mourits, Brita Arver, Theo A. M. van Os, Anne-Marie Gerdes, Douglas F. Easton, Marie-José Roos-Blom, Michael Friedlander, Lieske H. Schrijver, David E. Goldgar, Anna Jakubowska, Roger L. Milne, Håkan Olsson, Lisa Walker, Ros Eeles, Flora E. van Leeuwen, Mary Porteous, Sue-Anne McLachlan, Pascaline Berthet, Lenka Foretova, Catherine Noguès, Matti A. Rookus, Debra Frost, Daniel Barrowdale, Esther M. John, Julian Adlard, Encarna B. Gomez Garcia, Nadine Andrieu, Laurence Venat-Bouvet, Anita Bane, John L. Hopper, Mary Beth Terry, Jacques Simard, Ana Osorio, Antonis C. Antoniou, Christoph Engel, Wendy K. Chung, Karin Kast, Ibccs, D. Gareth Evans, Valérie Bonadona, Edith Olah, Steve Ellis, Christi J. van Asperen, T.M. Mooij, Human Genetics, APH - Methodology, APH - Quality of Care, Netherlands Cancer Institute (NKI), Antoni van Leeuwenhoek Hospital, Skane University Hospital [Lund], Lund University [Lund], University of Melbourne, Columbia Mailman School of Public Health, University of Utah School of Medicine [Salt Lake City], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Department of Clinical Sciences [Lund], University of Leipzig [Leipzig, Allemagne], Chapel Allerton Hospital, University of Cambridge [UK] (CAM), Queen Elizabeth University Hospital (Glasgow), Royal Marsden NHS Foundation Trust, University of Manchester [Manchester], Guy's and St Thomas NHS Foundation Trust [London], Western General Hospital [Edinburgh, UK], Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK], Churchill Hospital [Breast Care Unit], Churchill Hospital Oxford Centre for Haematology, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre Hospitalier Universitaire [Grenoble] (CHU), hôpital couple-enfant [CHU Grenoble Alpes], Hôpital René HUGUENIN (Saint-Cloud), Hôpital Dupuytren [CHU Limoges], Huntsman Cancer Institute [Salt Lake City], University of Utah, Monash University [Melbourne], Stanford University School of Medicine [CA, USA], California Sciences Institute, Columbia University [New York], Fox Chase Cancer Center, McMaster University [Hamilton, Ontario], Karolinska Institutet [Stockholm], Leiden University Medical Center (LUMC), School for Oncology and Developmental Biology [Maastricht] (GROW), Maastricht University [Maastricht]-Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], University Medical Center Groningen [Groningen] (UMCG), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), University of New South Wales [Sydney] (UNSW), Prince of Wales Hospital, St. Vincent's Hospital, Sydney, Medizinische Universität Wien = Medical University of Vienna, Masaryk Memorial Cancer Institute (RECAMO), University Hospital of Cologne [Cologne], Copenhagen University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Université Laval [Québec] (ULaval), National Institute of Oncology [Budapest, Hungary], Pomeranian Medical University [Szczecin, Poland] (PMU), Spanish National Cancer Centre, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Cancer Epidemiology Centre & Cancer Council Victoria [Melbourne, Australia], Melbourne School for Population and Global Health-University of Melbourne, Leipzig University, Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Masaryk Memorial Cancer Institute (MMCI), Pomeranian Medical University [Szczecin] (PUM), Mines Paris - PSL (École nationale supérieure des mines de Paris), University of Melbourne-Melbourne School for Population and Global Health, Malbec, Odile, Universiteit Leiden, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Life Course Epidemiology (LCE), and Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE)
Subjects: 0301 basic medicine, Cancer Research, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Article, OVARIAN-CANCER, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, medicine, Prospective cohort study, skin and connective tissue diseases, Pregnancy, Proportional hazards model, Obstetrics, business.industry, Hazard ratio, CONSORTIUM, WOMEN, medicine.disease, PREVENTION, Confidence interval, KCONFAB, [SDV] Life Sciences [q-bio], 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Cohort, business, Cohort study
Abstract: Background For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use and breast cancer (BC) risk is still unclear. Methods Breast camcer risk associations were estimated from OCP data on 6030 BRCA1 and 3809 BRCA2 mutation carriers using age-dependent Cox regression, stratified by study and birth cohort. Prospective, left-truncated retrospective and full-cohort retrospective analyses were performed. Results For BRCA1 mutation carriers, OCP use was not associated with BC risk in prospective analyses (hazard ratio [HR] = 1.08, 95% confidence interval [CI] = 0.75 to 1.56), but in the left-truncated and full-cohort retrospective analyses, risks were increased by 26% (95% CI = 6% to 51%) and 39% (95% CI = 23% to 58%), respectively. For BRCA2 mutation carriers, OCP use was associated with BC risk in prospective analyses (HR = 1.75, 95% CI = 1.03 to 2.97), but retrospective analyses were inconsistent (left-truncated: HR = 1.06, 95% CI = 0.85 to 1.33; full cohort: HR = 1.52, 95% CI = 1.28 to 1.81). There was evidence of increasing risk with duration of use, especially before the first full-term pregnancy (BRCA1: both retrospective analyses, P < .001 and P = .001, respectively; BRCA2: full retrospective analysis, P = .002). Conclusions Prospective analyses did not show that past use of OCP is associated with an increased BC risk for BRCA1 mutation carriers in young middle-aged women (40–50 years). For BRCA2 mutation carriers, a causal association is also not likely at those ages. Findings between retrospective and prospective analyses were inconsistent and could be due to survival bias or a true association for younger women who were underrepresented in the prospective cohort. Given the uncertain safety of long-term OCP use for BRCA1/2 mutation carriers, indications other than contraception should be avoided and nonhormonal contraceptive methods should be discussed.
Published: 2018
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31. How Can Contingent Valuation Inform the Bioethics Debate? Evidence from a Survey on Hereditary Cancers in France

Author: Isabelle Coupier, Emmanuelle Mouret-Fourme, Catherine Noguès, Olivier Chanel, Christel Protière, Claire Julian-Reynier, Lhuillier, Elisabeth, Groupement de Recherche en Économie Quantitative d'Aix-Marseille (GREQAM), École des hautes études en sciences sociales (EHESS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Santé Publique, Institut Curie [Paris]-Hôpital René HUGUENIN (Saint-Cloud), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Soins contre le Cancer, Institut Curie [Paris]-Fédération Hospitalière de France (FHF)-Hôpital René HUGUENIN (Saint-Cloud), Unité d'Oncogénétique, CRLCC Val d'Aurelle - Paul Lamarque, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, École Centrale de Marseille (ECM)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), and Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)
Subjects: medicine.medical_specialty, endocrine system, Prenatal diagnosis, [SHS]Humanities and Social Sciences, 03 medical and health sciences, 0302 clinical medicine, Willingness to pay, mental disorders, medicine, [SHS.ECO] Humanities and Social Sciences/Economics and Finance, reproductive and urinary physiology, Economie quantitative, Contingent valuation, 030219 obstetrics & reproductive medicine, business.industry, Authorization, Bioethics, respiratory system, [SHS.ECO]Humanities and Social Sciences/Economics and Finance, 3. Good health, Economy, 030220 oncology & carcinogenesis, Family medicine, Cohort, lipids (amino acids, peptides, and proteins), [SHS] Humanities and Social Sciences, business, Genetic diagnosis, General Economics, Econometrics and Finance
Abstract: BRCA1/2 carriers have a higher risk of developing breast and ovarian cancer at a younger age. Preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) are two of the few options available to avoid transmitting the mutation. To inform the bioethics debate about authorization, a contingent valuation survey elicited preferences regarding access to PGD and PND from a sample of 460 unaffected by cancer BRCA1/2 carriers (GENEPSO cohort). We find that the respondents can be classified into three groups: one opposed to PGD/PND (28.3%), one strongly in favour of PGD/PND (45.8%), and one in an intermediate position (25.9%). We look for the determinants of these preferences, especially of the willingness to pay for PGD/PND. Overall, we find that BRCA1/2 carriers support access to PGD/PND, which has implications for recommendations to decision-makers.JEL Codes: C01, C83, D04, D79, I19.
Published: 2017
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32. Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with aCDH1germline mutation

Author: Olivier Caron, David Malka, Audrey Remenieras, Bruno Buecher, Patrick R. Benusiglio, Camille Tlemsani, Mathilde Warcoin, Dominique Stoppa-Lyonnet, Qing Wang, Chystelle Colas, Jessica Moretta, Emmanuelle Mouret-Fourme, Pierre Romero, Martine Blayau, Sophie Grandjouan, Etienne Rouleau, Marina Di Maria, Nancy Uhrhammer, Antoine De Pauw, Catherine Noguès, Institut National du Cancer [Boulogne Billancourt] (INC), Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Curie [Paris], Département d'Oncogénétique, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Laboratoire de diagnostic génétique et moléculaire, Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Centre Léon Bérard [Lyon], Service de Génétique Oncologique, Institut Gustave Roussy (IGR), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique clinique [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Institut National du Cancer [Boulogne Billancourt] ( INC ), Institut Gustave Roussy ( IGR ) -Institut Gustave Roussy ( IGR ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Institut Curie, CRLCC Jean Perrin, Centre Jean Perrin, INSTITUT CURIE, Institut Gustave Roussy ( IGR ), CHU Cochin [AP-HP], Université de Rennes 1 ( UR1 ), and Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -CHU Pontchaillou [Rennes]-Hôpital Sud
Subjects: Oncology, Proband, medicine.medical_specialty, [SDV.CAN]Life Sciences [q-bio]/Cancer, Sensitivity and Specificity, Germline, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, Breast cancer screening, Germline mutation, Breast cancer, Antigens, CD, Stomach Neoplasms, Internal medicine, Genetics, medicine, Humans, Genetic Testing, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Germ-Line Mutation, Genetics (clinical), Retrospective Studies, medicine.diagnostic_test, business.industry, Cancer, Cadherins, medicine.disease, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Immunology, Medical genetics, Hereditary diffuse gastric cancer, business
Abstract: The international, consensus testing criteria for CDH1 germline mutations were recently revised in order to increase their performances, particularly their sensitivity. It is paramount to identify a high proportion of actual mutation carriers, as finding a mutation in a proband and subsequently in some of his relatives allows for risk-reducing recommendations regarding diffuse gastric cancer (DGC) and lobular breast cancer (LBC). We collected data on all French probands tested for CDH1 in a retrospective study on the hereditary DGC syndrome (HDGC). Out of 627 probands, 52 were carriers. We compared the new, 2015 version of these criteria to the 2010 version, and showed that both the sensitivity and the Youden index ( J ), an index that estimates the criteria discriminating power, increased. CDH1 is a tumour suppressor gene located on chromosome 16q22. It codes for the E-cadherin adhesion protein. Monoallelic germline mutations in CDH1 cause HDGC, in which carriers have a high lifetime risk of DGC (also called signet ring cell gastric cancer), and LBC (reviewed in ref. 1). In clinical practice, mutations are first identified in a proband with a personal history of DGC and/or LBC, and adult relatives are subsequently tested to see whether they also carry the mutation. Asymptomatic carriers are then advised to undergo risk-reducing gastrectomy, and for women annual breast cancer screening using MRI. The International Gastric Cancer Linkage Consortium defined clinical criteria warranting CDH1 germline testing in a proband. The criteria were first published in 1999 and then updated in 2010.2 ,3 A new 2015 version is being published in this issue of the Journal of Medical Genetics …
Published: 2015
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33. Abstract P3-06-19: Large-scale retrospective analysis between 1980-2008 in 20 838 women with breast cancer - Results in young women (< 40 years old)

Author: L. Jouanneau, Florence Lerebours, J.-M. Guinebretiere, A. Guerard, Catherine Noguès, D. Stevens, Emmanuelle Mouret-Fourme, Pascal Cherel, S. Lasry, and B. De La Lande
Subjects: Gynecology, Cancer Research, medicine.medical_specialty, education.field_of_study, business.industry, Obstetrics, Population, Cancer, medicine.disease, Aged patients, Large cohort, Breast cancer, Oncology, medicine, Retrospective analysis, business, education, Pathological
Abstract: Background: The risk for developing breast cancer before the age of 40 is less than 1% and is similar worldwide. Breast cancer in young women is different from that of older women in terms of clinical and pathological characteristics and prognosis. We reviewed the evolution of breast cancer in young women aged < 40 years between 1980 and 2008 in the large database of the René Huguenin Hospital in France. Patients and Methods: Women diagnosed with a first breast cancer were prospectively included in the institution database. The analysis population included all women treated and followed between 1980 and 2008 for new breast cancer. The data were grouped into three periods: 1980-1990 (systematic pre-screening), 1991-2003 (first pilot screening experiences) and 2004-2008 (generalized systematic screening) and per age group comparing women Results: From 1980-2008, there were 20838 new breast cancers diagnosed, including 1431 (6.9%) in women Conclusion: Results of the retrospective analysis of a very large cohort of women less than 40 years diagnosed with breast cancer show that woman Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P3-06-19.
Published: 2013
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34. Épidémiologie et aspects cliniques des métastases osseuses

Author: Frédérique Cvitkovic and Emmanuelle Mouret-Fourme
Subjects: Cancer Research, medicine.medical_specialty, business.industry, Pathologic fracture, Skeletal related events, Hematology, General Medicine, medicine.disease, Asymptomatic, Primary tumor, Clinical trial, Oncology, Spinal cord compression, Epidemiology, medicine, BONE RESORPTION INHIBITORS, Radiology, Nuclear Medicine and imaging, medicine.symptom, Intensive care medicine, business
Abstract: The actual improvement of epidemiologic database collection concerning bone metastases of solid tumors allows us to better understand the seriousness of this evolution, its human, social and financial burden. A renewal of interest appeared with a better screening of the asymptomatic forms and by the therapeutic advances obtained by bone resorption inhibitors. They were developed in clinical trials with a specific and original methodology evaluating their efficacy on the skeletal-related events (SRE) (pain, fracture, spinal cord compression, pathologic fracture and hypercalcemia). It is a major concern for the clinician, whatever his specialization (medical oncology, radiotherapist, surgeon, supportive care expert), to recognize these SRE for an early diagnosis and treatment since they are, with the primary tumor, the most important prognostic factors for patient's survival.
Published: 2013
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35. Which factors predict proposal and uptake of psychological counselling after BRCA1/2 test result disclosure?

Author: Jean-Pierre Fricker, Dominique Stoppa-Lyonnet, Elizabeth Luporsi, Anne-Déborah Bouhnik, Laurence Gladieff, Pascaline Berthet, Claire Julian-Reynier, Christine Lasset, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Maheu, and Olivier Caron
Subjects: 0303 health sciences, medicine.medical_specialty, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Experimental and Cognitive Psychology, Odds ratio, Logistic regression, Confidence interval, Test (assessment), 03 medical and health sciences, Psychiatry and Mental health, Distress, 0302 clinical medicine, Oncology, 030220 oncology & carcinogenesis, Epidemiology, medicine, business, Prospective cohort study, Social psychology, Demography, Genetic testing
Abstract: Objective: The aim of this study is to prospectively determine the factors contributing to whether unaffected women from BRCA1/2 families reported that clinicians proposed psychological consultations and that they had attended these consultations during the genetic testing process. Methods: A prospective study was performed on a national cohort, using self-administered questionnaires to determine the rates of proposal and use of psychological services at the time of BRCA1/2 test result disclosure (N=533) and during the first year after disclosure (N=478) among unaffected French women from BRCA1/2 families who had undergone genetic testing for BRCA1/2. Multivariate adjustment was carried out using logistic regression models fitted using generalized estimation equations, with the genetic testing centre as the clustering variable. Results: At the time of BRCA1/2 test result disclosure, a psychological consultation was proposed by cancer geneticists to 72% and 32% of the carriers (N=232) and noncarriers (N=301), respectively (p
Published: 2013
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36. miRNA expression profiling of inflammatory breast cancer identifies a 5-miRNA signature predictive of breast tumor aggressiveness

Author: Géraldine Cizeron-Clairac, Sophie Vacher, C. Bélichard, Jean-Louis Alberini, Etienne Brain, Rosette Lidereau, Frédérique Spyratos, Emmanuelle Mouret-Fourme, Aurélie Susini, Florence Lerebours, and Ivan Bièche
Subjects: Mirna signature, Oncology, Cancer Research, medicine.medical_specialty, Biology, medicine.disease, Inflammatory breast cancer, Phenotype, Breast cancer, Mirna expression, Internal medicine, Gene expression, microRNA, medicine, Epigenetics, skin and connective tissue diseases
Abstract: IBC (inflammatory breast cancer) is a rare but very aggressive form of breast cancer with a particular phenotype. The molecular mechanisms responsible for IBC remain largely unknown. In particular, genetic and epigenetic alterations specific to IBC remain to be identified. MicroRNAs, a class of small noncoding RNAs able to regulate gene expression, are deregulated in breast cancer and may therefore serve as tools for diagnosis and prediction. This study was designed to determine miRNA expression profiling (microRNAome) in IBC. Quantitative RT-PCR was used to determine expression levels of 804 miRNAs in a screening series of 12 IBC compared to 31 non-stage-matched non-IBC and 8 normal breast samples. The differentially expressed miRNAs were then validated in a series of 65 IBC and 95 non-IBC. From a set of 18 miRNAs of interest selected from the screening series, 13 were differentially expressed with statistical significance in the validation series of IBC compared to non-IBC. Among these, a 5-miRNA signature comprising miR-421, miR-486, miR-503, miR-720 and miR-1303 was shown to be predictive for IBC phenotype with an overall accuracy of 89%. Moreover, multivariate analysis showed that this signature was an independent predictor of poor Metastasis-Free Survival in non-IBC patients.
Published: 2013
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37. A Double-blind Randomized Trial of Wound and Intercostal Space Infiltration with Ropivacaine during Breast Cancer Surgery

Author: Cyrus Motamed, Smail Hamouda, Emmanuelle Mouret-Fourme E, Pierre-Yves Dubois, Aline Albi-Feldzer, Christian Jayr, and Ludivine Jouanneau
Subjects: medicine.medical_specialty, Ropivacaine, Local anesthetic, medicine.drug_class, business.industry, Breast surgery, medicine.medical_treatment, Analgesic, Chronic pain, medicine.disease, Placebo, Surgery, Anesthesiology and Pain Medicine, Anesthesia, Neuropathic pain, medicine, Brief Pain Inventory, business, medicine.drug
Abstract: Background:The efficacy of local anesthetic wound infiltration for the treatment of acute and chronic postoperative pain is controversial and there are no detailed studies. The primary objective of this study was to evaluate the influence of ropivacaine wound infiltration on chronic pain after breast surgery.Methods:In this prospective, randomized, double-blind, parallel-group, placebo-controlled study, 236 patients scheduled for breast cancer surgery were randomized (1:1) to receive ropivacaine or placebo infiltration of the wound, the second and third intercostal spaces and the humeral insertion of major pectoralis. Acute pain, analgesic consumption, nausea and vomiting were assessed every 30 min for 2 h in the postanesthesia care unit and every 6 h for 48 h. Chronic pain was evaluated 3 months, 6 months, and 1 yr after surgery by the brief pain inventory, hospital anxiety and depression, and neuropathic pain questionnaires.Results:Ropivacaine wound infiltration significantly decreased immediate postoperative pain for the first 90 min, but did not decrease chronic pain at 3 months (primary endpoint), or at 6 and 12 months postoperatively. At 3 months, the incidence of chronic pain was 33% and 27% (P = 0.37) in the ropivacaine and placebo groups, respectively. During follow-up, brief pain inventory, neuropathic pain, and anxiety increased over time in both groups (P < 0.001) while depression remained stable. No complications occurred.Conclusion:This multicenter, prospective study shows that ropivacaine wound infiltration after breast cancer surgery decreased immediate postoperative pain but did not decrease chronic pain at 3, 6, and 12 months postoperatively.
Published: 2013
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38. GENESIS: a French national resource to study the missing heritability of breast cancer

Author: Sylvie Mazoyer, Valérie Layet, Carole Verny-Pierre, Claude Adenis, Marie-Gabrielle Dondon, Isabelle Mortemousque, Morgane Marcou, Olga M. Sinilnikova, Philippe Jonveaux, Anne Floquet, François Eisinger, Yves-Jean Bignon, Catherine Noguès, Laurence Gladieff, Capucine Delnatte, Olivier Caron, Bruno Buecher, Pascaline Berthet, Anne Fajac, Clotilde Penet, Séverine Eon-Marchais, Sandra Fert-Ferrer, Florent Soubrier, Dominique Stoppa-Lyonnet, Chrystelle Colas, Isabelle Coupier, Christine Lasset, Emmanuelle Barouk-Simonet, Michel Longy, Jean-Pierre Fricker, Jean Chiesa, Sophie Giraud, Dominique Leroux, Catherine Dugast, Sophie Lejeune-Dumoulin, Hélène Dreyfus, Annie Chevrier, Odile Cohen-Haguenauer, Thierry Frebourg, Liliane Demange, Julie Tinat, Fabienne Lesueur, Pascal Pujol, Emmanuelle Mouret-Fourme, Elisabeth Luporsi, Christine Maugard, Dorothée Le Gal, Noura Mebirouk, Séverine Audebert-Bellanger, Laure Barjhoux, Muriel Belotti, Eve Cavaciuti, Marion Gauthier-Villars, Marie-Agnès Collonge-Rame, Paul Gesta, Jean-Marc Limacher, Odile Bera, Lucie Toulemonde, Anne Tardivon, Fabienne Prieur, Laurence Faivre, Juana Beauvallet, Alain Lortholary, Nadine Andrieu, François Cornelis, Marc Frenay, Valérie Sornin, Laurence Venat-Bouvet, Francesca Damiola, Valérie Bonadona, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], Université Paris sciences et lettres (PSL), Service de génétique, Institut Curie Paris, Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Catherine-de-Sienne [Nantes] (CCS), CRLCC Eugène Marquis (CRLCC), Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), CRLCC Paul Strauss, CRLCC René Huguenin, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service d'oncogénétique [Centre georges-François Leclerc], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), CRLCC René Gauducheau, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centre Léon Bérard [Lyon], Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Département d'Oncologie et Hématologie [Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Institut Bergonié [Bordeaux], Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université de Lille-UNICANCER, Service d'Oncologie médicale [CHU Limoges], CHU Limoges, Polyclinique de Courlancy, Institut Sainte Catherine [Avignon], Centre Hospitalier Universitaire [Grenoble] (CHU), Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), Institut Claudius Regaud, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Département de génétique médicale en pédiatrie [CHRU Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital Jeanne de Flandre [Lille], Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Hôpital pasteur [Colmar], Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Métropole Savoie [Chambéry], CRLCC Jean Godinot, Institut du cancer Courlancy-Reims, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital Gustave Flaubert, Service de génétique médicale CHU Grenoble Hôpital Couple Enfant, CHU Grenoble, Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre Viggo-Petersen, Service de Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), CHU de la Martinique [Fort de France], Institut Curie, Département d'Imagerie Médicale (Curie Institute, Department of Medical Imaging), F-75005 Paris, France., Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), UL, NGERE, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), MINES ParisTech - École nationale supérieure des mines de Paris, UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Université Lille Nord de France (COMUE)-UNICANCER, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: 0301 basic medicine, Oncology, Cancer Research, [SDV]Life Sciences [q-bio], Genome-wide association study, Identifies 2, Genome-Wide Association, 0302 clinical medicine, Missing heritability problem, Confer Susceptibility, Susceptibility Loci, 10. No inequality, skin and connective tissue diseases, education.field_of_study, medicine.diagnostic_test, BRCA1 Protein, Middle Aged, 16. Peace & justice, 3. Good health, Neoplasm Proteins, [SDV] Life Sciences [q-bio], 030220 oncology & carcinogenesis, Female, France, Research Article, Adult, Risk, medicine.medical_specialty, Population, Breast Neoplasms, 03 medical and health sciences, Germline mutation, Breast cancer, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Germ-Line Mutation, Alleles, Genetic testing, Aged, Gynecology, BRCA2 Protein, Common Variants, business.industry, Genetic heterogeneity, Cancer, medicine.disease, 030104 developmental biology, business
Abstract: Background Less than 20 % of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibility genes in women attending cancer genetics clinics and with no BRCA1/2 mutation. Methods The study involved the French national network of family cancer clinics. It was based on enrichment in genetic factors of the recruited population through case selection relying on familial criteria, but also on the consideration of environmental factors and endophenotypes like mammary density or tumor characteristics to assess potential genetic heterogeneity. One of the initial aims of GENESIS was to recruit affected sibpairs. Siblings were eligible when index cases and at least one affected sister were diagnosed with infiltrating mammary or ductal adenocarcinoma, with no BRCA1/2 mutation. In addition, unrelated controls and unaffected sisters were recruited. The enrolment of patients, their relatives and their controls, the collection of the clinical, epidemiological, familial and biological data were centralized by a coordinating center. Results Inclusion of participants started in February 2007 and ended in December 2013. A total of 1721 index cases, 826 affected sisters, 599 unaffected sisters and 1419 controls were included. 98 % of participants completed the epidemiological questionnaire, 97 % provided a blood sample, and 76 % were able to provide mammograms. Index cases were on average 59 years old at inclusion, were born in 1950, and were 49.7 years of age at breast cancer diagnosis. The mean age at diagnosis of affected sisters was slightly higher (51.4 years). The representativeness of the control group was verified. Conclusions The size of the study, the availability of biological specimens and the clinical data collection together with the detailed and complete epidemiological questionnaire make this a unique national resource for investigation of the missing heritability of breast cancer, by taking into account environmental and life style factors and stratifying data on endophenotypes to decrease genetic heterogeneity.
Published: 2016
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39. Disclosure of research results: a randomized study on GENEPSO-PS cohort ă participants

Author: Julien Mancini, Elodie Le Cozannet, Claire Julian-Reynier, Anne-Déborah Bouhnik, Noémie Resseguier, Catherine Noguès, Christine Lasset, Emmanuelle Mouret-Fourme, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Biostatistique et technologies de l'information et de la communication (BioSTIC) - [Hôpital de la Timone - APHM] (BiosTIC ), Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Equipe de prévention et épidémiologie génétique, Centre Léon Bérard [Lyon], Santé Publique, Institut Curie [Paris]-Hôpital René HUGUENIN (Saint-Cloud), Soins contre le Cancer, Institut Curie [Paris]-Fédération Hospitalière de France (FHF)-Hôpital René HUGUENIN (Saint-Cloud), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), and Auquier, Pascal
Subjects: Male, 0301 basic medicine, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Genes, BRCA2, Health Behavior, Genes, BRCA1, Psychological intervention, [SHS.PSY]Humanities and Social Sciences/Psychology, 030105 genetics & heredity, law.invention, Randomized controlled trial, law, Surveys and Questionnaires, [SHS.ECO] Humanities and Social Sciences/Economics and Finance, media_common, research results, Daughter, satisfaction, cohort, Middle Aged, [SHS.ECO]Humanities and Social Sciences/Economics and Finance, Original Research Paper, Patient Satisfaction, quality, randomized controlled trials, Cohort, Educational Status, Female, France, Psychosocial, Social psychology, medicine.medical_specialty, media_common.quotation_subject, Breast Neoplasms, Disclosure, [SHS.PSY] Humanities and Social Sciences/Psychology, 03 medical and health sciences, Patient satisfaction, BRCA1/2, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, business.industry, Public Health, Environmental and Occupational Health, Odds ratio, Confidence interval, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Family medicine, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Original Research Papers
Abstract: International audience; Background There exist no recommendations as to how aggregate research ă results should best be disclosed to long-term cohort participants. ă Objective To study the impact of cohort results disclosure documents of ă various kinds on participants' satisfaction. ă Design Randomized study with a 2x2 factorial design. ă Setting and participants The GENEPSO-PS cohort is used to study the ă psychosocial characteristics and preventive behaviour of both BRCA1/2 ă carriers and non-carriers; 235 participants wishing to receive ă `information about the survey results' answered a self-administered ă questionnaire. ă Interventions The impact of providing the following items in addition to ă a leaflet about aggregate psychosocial research results was investigated ă (i) an up-to-date medical information sheet about BRCA1/2 genetic ă topics, (ii) a photograph with the names of the researchers. ă Main outcome measures Satisfaction profiles drawn up using cluster ă analysis methods. ă Results Providing additional medical and/or research team information ă had no significant effect on satisfaction. The patients attributed to ă the `poorly satisfied' group (n = 60, 25.5%) differed significantly ă from those in the `highly satisfied' group (n = 51, 21.7%): they were ă younger [odds ratio (OR) = 0.96, 95% confidence interval (0.92-0.99), ă P = 0.028], less often had a daughter [OR = 4.87 (1.80-13.20), P = ă 0.002], had reached a higher educational level [OR = 2.94 (1.24-6.95), ă P = 0.014] and more frequently carried a BRCA1/2 mutation [OR = 2.73 ă (1.20-6.23), P = 0.017]. ă Conclusions This original approach to disclosing research results to ă cohort participants was welcomed by most of the participants, but less ă by the more educated and by BRCA1/2 carriers. Although an easily ă understandable document is necessary, it might also be worth providing ă some participants with more in-depth information.
Published: 2016
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40. Randomized phase 2 neoadjuvant trial evaluating anastrozole and fulvestrant efficacy for postmenopausal, estrogen receptor-positive, human epidermal growth factor receptor 2-negative breast cancer patients: Results of the UNICANCER CARMINA 02 French trial (UCBG 0609)

Author: Sandrine Lavau-Denes, Pierre Kerbrat, Jean-Marc Nabholz, Marie-Christine Mathieu, Martine Trassard, Pascal Cherel, Jérôme Lemonnier, Corinne Balleyguier, Anne-Laure Martin, B Sigal, Veronique Boussion, Sofia Rivera, Véronique Becette, Fabienne Thibault, L. Venat-Bouvet, Séverine Alran, Rémy Salmon, Emmanuelle Mouret-Fourme, Céline Bourgier, Marie-Ange Mouret-Reynier, Florence Lerebours, Institut Curie [Paris], Institut Gustave Roussy (IGR), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Service d'Oncologie médicale [CHU Limoges], CHU Limoges, CRLCC Eugène Marquis (CRLCC), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), R&D UNICANCER, Fédération Nationale des Centres de Lutte Contre le Cancer (FNCLCL/UNICANCER), and UNICANCER-UNICANCER
Subjects: 0301 basic medicine, Oncology, Cancer Research, Receptor, ErbB-2, medicine.medical_treatment, Estrogen receptor, clinical response, neoadjuvant endocrine therapy, 0302 clinical medicine, MESH: Aged, 80 and over, MESH: Carcinoma, Lobular, Antineoplastic Combined Chemotherapy Protocols, Breast-conserving surgery, Neoadjuvant therapy, Aged, 80 and over, MESH: Aged, postmenopausal, MESH: Middle Aged, Estradiol, fulvestrant, Carcinoma, Ductal, Breast, MESH: Neoplasm Staging, MESH: Follow-Up Studies, Middle Aged, MESH: Fulvestrant, Prognosis, Neoadjuvant Therapy, MESH: Nitriles, 3. Good health, Postmenopause, Survival Rate, MESH: Receptor, ErbB-2, MESH: Antineoplastic Combined Chemotherapy Protocols, 030220 oncology & carcinogenesis, Female, France, MESH: Estradiol, breast-conserving surgery, MESH: Postmenopause, medicine.drug, medicine.medical_specialty, MESH: Anastrozole, MESH: Survival Rate, anastrozole, MESH: Neoadjuvant Therapy, Anastrozole, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, survival, MESH: Prognosis, 03 medical and health sciences, Breast cancer, breast cancer, Internal medicine, Nitriles, medicine, Humans, Survival rate, Aged, Neoplasm Staging, MESH: Humans, Fulvestrant, business.industry, Cancer, Triazoles, medicine.disease, MESH: France, MESH: Carcinoma, Ductal, Breast, Carcinoma, Lobular, 030104 developmental biology, MESH: Triazoles, phase 2, hormone receptor-positive, business, MESH: Female, MESH: Breast Neoplasms, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Follow-Up Studies
Abstract: International audience; BACKGROUND:Treatment strategies for locally advanced breast cancer in elderly patients too frail to receive neoadjuvant chemotherapy and the introduction of new classes of drugs in the early 2000s have led to the consideration of endocrine therapy as a neoadjuvant treatment for younger hormone receptor (HR)-positive, postmenopausal patients not eligible for primary breast-conserving surgery (BCS).METHODS:This was a multicenter, phase 2, randomized trial designed to evaluate as its primary objective the clinical response rate after up to 6 months of neoadjuvant endocrine therapy (NET) alone in HR-positive/human epidermal growth factor receptor 2 (HER2)-negative patients with 1 mg of anastrozole (arm A) or 500 mg of fulvestrant (arm B). Secondary objectives included the BCS rate, tumor response assessment (breast ultrasound and magnetic resonance imaging), pathological response (Sataloff classification), safety profile, relapse-free survival (RFS), and predictive markers of responses and outcomes.RESULTS:From October 2007 to April 2011, 116 women (mean age, 71.6 years) with operable infiltrating breast adenocarcinoma (T2-T4, N0-N3, M0) were randomized to receive anastrozole or fulvestrant. The clinical response rates at 6 months were 52.6% (95% confidence interval [CI], 41%-64%) in arm A and 36.8% (95% CI, 25%-49%) in arm B. BCS was performed for 57.6% of arm A patients and 50% of arm B patients. The RFS rates at 3 years were 94.9% in arm A and 91.2% in arm B. The Preoperative Endocrine Prognostic Index status was significantly predictive of RFS. Both treatments were well tolerated.CONCLUSIONS:Both drugs are effective and well tolerated as NET in postmenopausal women with HR-positive/HER2-negative breast cancer. NET could be considered a treatment option in this subpopulation. Cancer 2016;122:3032-3040. © 2016 American Cancer Society.
Published: 2016
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41. Indications et efficacité de la chirurgie prophylactique des cancers gynécologiques et digestifs avec prédisposition génétique

Author: Emmanuelle Mouret-Fourme and Catherine Noguès
Subjects: Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, Endometrial cancer, Cancer, General Medicine, medicine.disease, Prophylactic Surgery, Lynch syndrome, Breast cancer, medicine, business, Bilateral Prophylactic Mastectomy, Ovarian cancer, Watchful waiting
Abstract: Preventive surgery is a mainstay of treatment for persons with genetic risk factors for cancer The indications of preventive surgery are based on a thorough risk assessment, clinical characteristics of the different hereditary cancer susceptibility syndromes, the types of mutation, and the possibility of watchful waiting for early cancer detection. Preventive surgery may either be recommended or represent one possible option. Bilateral prophylactic mastectomy can reduce the risk of breast cancer by up to 95% in BRCA1/BRCA2 mutation carriers. Bilateral prophylactic salpingo-oophorectomy is recommended for BRCA1/ BRCA2 carriers: women who undergo this preventive surgery have a reduced risk of ovarian cancer but also of breast cancer (around 50% for breast cancer). Patients with Lynch syndrome are at high risk of endometrial cancer, and prophylactic hysterectomy may be proposed to women for whom surgery is indicated for a uterine disorder (fibroma). Prophylactic surgery may be proposed to patients at risk of hereditary gastrointestinal malignancies, either on a case-by-case basis (Lynch syndrome) or more systematically for patients with the familial adenomatous polyposis syndrome or hereditary difuse gastric cancer Despite its efficacy, prophylactic surgery in a healthy individual, albeit at high risk of cancer, remains a difficult, multidisciplinary decision. Psychological support is needed to anticipate the possible physical psychological and social complications--and benefits.
Published: 2012
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42. Development of a scale for assessing respondents' perceptions of health research questionnaires (the REP-HQ Scale)

Author: Julien Mancini, Anne-Déborah Bouhnik, Emmanuelle Mouret-Fourme, Catherine Noguès, Michel Dorval, Claire Julian-Reynier, and Roxane Fabre
Subjects: Adult, Biomedical Research, Psychometrics, Scale (ratio), Epidemiology, media_common.quotation_subject, Genes, BRCA2, Genes, BRCA1, Medical information, Cronbach's alpha, Surveys and Questionnaires, Perception, Humans, Genetic Testing, Longitudinal Studies, Aged, media_common, Principal Component Analysis, Reproducibility of Results, Middle Aged, Test (assessment), Cohort, Female, France, Psychology, Attitude to Health, Cohort study, Clinical psychology
Abstract: Objective To develop a scale for assessing Respondents' Perceptions of Health Research Questionnaires (the REP-HQ Scale) and test this scale psychometrically. Study Design and Setting A scale was drawn, based on detailed content analysis of patients' free comments, which were collected prospectively in a 2-year cohort study ( n = 228). The questionnaire corresponding to this scale was subsequently completed by a cohort of female BRCA1/2 carriers/noncarriers not affected by cancer, who had been followed up for 5 years since test result disclosure ( n = 246). Principal component analysis, Cronbach's alpha coefficient, and Pearson's correlations were used in the statistical analyses. Results The perceived effects that emerged from the respondents' responses were analyzed and classified under the headings: “Useful medical information,” “Usefulness of research,” and “Labeling intrusion.” Cronbach's alpha coefficients on the three dimensions were 0.75, 0.64, and 0.56, respectively. Carriers obtained lower scores than noncarriers on the first dimension ( P = 0.005) and on the overall score ( P = 0.002). Conclusions The REP-HQ scale is the first generic tool to be developed for assessing participants' perceptions about the effects of health research questionnaires. Further testing is now required to confirm the validity of the findings obtained here by applying this tool in other settings.
Published: 2012
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43. Métastases cérébrales des cancers du sein : intérêt et limites des scores pronostiques

Author: Romuald Le Scodan, Christophe Massard, Emmanuelle Mouret-Fourme, Maya Gutierrez, and L. Jouanneau
Subjects: Oncology, Cancer Research, medicine.medical_specialty, education.field_of_study, business.industry, Standard treatment, medicine.medical_treatment, Population, Cancer, Hematology, General Medicine, medicine.disease, Metastatic breast cancer, Radiation therapy, Breast cancer, Internal medicine, medicine, Radiology, Nuclear Medicine and imaging, Breast disease, education, business, Breast carcinoma
Abstract: Approximately 10 to 30% of patients with metastatic breast cancer will develop brain metastases (BM) during the disease course. Whole-brain radiation therapy (WBRT) is considered the standard treatment for most patients, particularly those with extensive intracranial disease, providing symptom relief and increasing median and overall survival. Despite WBRT, the prognosis for the general population of patients with BM remains poor, with a median survival time of approximately five months. Several studies have examined the relative contributions of patient characteristics to survival and have attempted to identify subgroups of patients with substantially different outcomes in order to tailor therapy and to influence the design, stratification and interpretation of future clinical trials. This review examines prognostic scores and their validation in patients with BM from breast carcinoma. We also discuss the prognostic value of specific parameters for breast carcinoma, such as tumor HR status, HER2 over-expression or specific treatment parameters, and the value and limits of these prognostic scores in clinical practice.
Published: 2011
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44. Impact of age at diagnosis of metastatic breast cancer on overall survival in the real-life ESME MBC COHORT

Author: Corinne Tchokothe, Audrey Mailliez, Anthony Gonçalves, Lionel Uwer, Sophie Frank, Coraline Dubot, Barbara Pistilli, Christelle Levy, Mario Campone, Claudia Lefeuvre, Jean-Marc Ferrero, Marianne Leheurteur, Thomas Bachelot, Matthieu Carton, Thierry Petit, T. Guesmia, William Jacot, Emmanuelle Mouret-Fourme, Paul Cottu, Marc Debled, Jean-Christophe Eymard, Mathieu Robain, Marie-Ange Mouret-Reynier, and Florence Dalenc
Subjects: Oncology, medicine.medical_specialty, business.industry, Internal medicine, Cohort, Overall survival, Medicine, Age at diagnosis, Surgery, General Medicine, business, medicine.disease, Metastatic breast cancer
Published: 2018
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45. Brain Metastases From Breast Carcinoma: Validation of the Radiation Therapy Oncology Group Recursive Partitioning Analysis Classification and Proposition of a New Prognostic Score

Author: A. Labib, Nicole Renody, Brigitte De Lalande, C. Cohen-Solal, Romuald Le Scodan, Alain Goupil, Miriam Gardner, P. Moisson, Jean Marc Guinebretierre, J.-L. Floiras, Christophe Massard, Emmanuelle Mouret-Fourme, and Christelle Breton-Callu
Subjects: Adult, Oncology, Cancer Research, medicine.medical_specialty, Multivariate analysis, Receptor, ErbB-2, medicine.medical_treatment, Breast Neoplasms, Recursive partitioning, Prognostic score, Breast cancer, Lymphopenia, Internal medicine, Confidence Intervals, medicine, Humans, Radiology, Nuclear Medicine and imaging, Karnofsky Performance Status, Aged, Retrospective Studies, Aged, 80 and over, Radiation, Brain Neoplasms, business.industry, Middle Aged, Prognosis, medicine.disease, Primary tumor, Confidence interval, Survival Rate, Radiation therapy, Multivariate Analysis, Female, Cranial Irradiation, Breast carcinoma, business
Abstract: Purpose To validate the Radiation Therapy Oncology Group Recursive Partitioning Analysis (RTOG RPA) classification and determine independent prognostic factors, to create a simple and specific prognostic score for patients with brain metastases (BM) from breast carcinoma treated with whole-brain radiotherapy (WBRT). Methods and Materials From January 1998 through December 2003, 132 patients with BM from breast carcinoma were treated with WBRT. We analyzed several potential predictors of survival after WBRT: age, Karnofsky performance status, RTOG-RPA class, number of BM, presence and site of other systemic metastases, interval between primary tumor and BM, tumor hormone receptor (HR) status, lymphocyte count, and HER-2 overexpression. Results A total of 117 patients received exclusive WBRT and were analyzed. Median survival with BM was 5 months. One-year and 2-year survival rates were 27.6% (95% confidence interval [CI] 19.9–36.8%) and 12% (95% CI 6.5–21.2%), respectively. In multivariate analysis, RTOG RPA Class III, lymphopenia (≤0.7 × 10 9 /L) and HR negative status were independent prognostic factors for poor survival. We constructed a three-factor prognostic scoring system that predicts 6-month and 1-year rates of overall survival in the range of 76.1–29.5% ( p = 0.00033) and 60.9–15.9% ( p = 0.0011), respectively, with median survival of 15 months, 5 months, or 3 months for patients with none, one, or more than one adverse prognostic factor(s), respectively. Conclusions This study confirms the prognostic value of the RTOG RPA classification, lymphopenia, and tumor HR status, which can be used to form a prognostic score for patients with BM from breast carcinoma.
Published: 2007
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46. Impact of BRCA1/2 mutation on young women’s 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort)

Author: Julien Mancini, Catherine Noguès, Emmanuelle Mouret-Fourme, Claire Julian-Reynier, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Hôpital de la Timone [CHU - APHM] (TIMONE), CRLCC René Huguenin, and Lissalde, Claire
Subjects: Adult, Cancer Research, medicine.medical_specialty, Genetic testing, Adolescent, Genes, BRCA2, Genes, BRCA1, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.GEN] Life Sciences [q-bio]/Genetics, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, 5. Gender equality, [SDV.CAN] Life Sciences [q-bio]/Cancer, Couples’ relationships, BRCA1/2, Epidemiology, Genetics, medicine, Humans, Prospective cohorts, Prospective Studies, Prospective cohort study, Genetics (clinical), 030304 developmental biology, Gynecology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Parenting, medicine.diagnostic_test, business.industry, Odds ratio, Middle Aged, Confidence interval, Parenthood, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Mutation, Cohort, Mutation (genetic algorithm), Female, business, Demography, Cohort study
Abstract: International audience; Previous qualitative and intentions surveys have shown that the disclosure of a BRCA1/2 mutation might deter young women from becoming pregnant. However, to our knowledge, no comparative studies have ever documented the possibility that positive genetic test results might affect these women’s future reproductive rates. Our aim was therefore to quantify the impact of BRCA1/2 mutation disclosure on long-term relationships between partners and childbearing rates. Participants were cancer-free women belonging to families in which a deleterious BRCA1/2 mutation had been identified, who had attended one of the 29 participating cancer genetic clinics for BRCA1/2 testing between 2000 and 2006. Logistic regression models were used to determine predictors of the 5-year self-reported parenthood rate. The sample consisted of 271 women aged 18–45 years (126 BRCA1/2 mutation carriers and 145 non-carriers). Couples had separated more frequently among BRCA1/2 carriers than non-carriers (10 vs. 3 %, p = .040), especially among nulliparous carriers (13 %). Among the 104 women who were childless at disclosure, disclosure of a BRCA1/2 mutation was not significantly associated with childbearing during the 5-year follow-up period [adjusted odds ratio .64, 95 % confidence interval (CI) (.26, 1.57), p = .334]. Among the 167 women with at least one child at disclosure of a BRCA1/2 mutation had no conspicuous effect on the childbearing trends [adjOR .88, 95 % CI (.35, 2.21), p = .787]. The disclosure of a BRCA1/2 mutation might impact couples’ relationships and future mothering rates, particularly among nulliparous women. Studies on larger populations are now required to confirm these findings.
Published: 2015
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47. Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers

Author: Nadine Andrieu, Laurence Gladieff, Olivier Caron, Laurence Venat-Bouvet, Dominique Stoppa-Lyonnet, Pascaline Berthet, Catherine Noguès, Véronique Mari, Alain Lortholary, Jean-Pierre Fricker, Emmanuelle Mouret-Fourme, Elisabeth Luporsi, Dominique Leroux, Paul Gesta, Valérie Bonadona, Laurence Faivre, Christine Lasset, Pascal Pujol, François Eisinger, Isabelle Coupier, Chrystelle Colas, Julie Lecarpentier, Julie Tinat, Christine Maugard, Marion Gauthier-Villars, Bruno Buecher, Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie - Saint Cloud (ICSC), Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Léon Bérard [Lyon], Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), CRLCC Paul Strauss, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service d'oncogénétique [Centre georges-François Leclerc], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), Centre Investigations Préventives et Cliniques (IPC), CPAM, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Hématologie - IUCT-Oncopole [CHU Toulouse], Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle IUCT [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut Claudius Regaud, Centre Catherine-de-Sienne [Nantes] (CCS), Service d'oncologie médicale [ICL Alexis Vautrin], Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Service de génétique médicale CHU Grenoble Hôpital Couple Enfant, CHU Grenoble, CHU Dupuytren, Nouvel Hôpital Civil, Laboratoire de Diagnostic Génétique, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Rouen, Normandie Université (NU), The GENEPSO study is supported by the Fondation de France and the Ligue Nationale Contre le Cancer., JL has been supported by Fondation de France., Lissalde, Claire, Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Saint-Cloud], UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Service d'Hématologie [IUCT Toulouse], Université Fédérale Toulouse Midi-Pyrénées-Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Epidemiology, Physiology, phenotype-genotype correlation, 0302 clinical medicine, Breast cancer, Risk Factors, skin and connective tissue diseases, Reproductive History, Aged, 80 and over, 0303 health sciences, education.field_of_study, BRCA1 Protein, Hazard ratio, Absolute risk reduction, Middle Aged, 3. Good health, Menopause, Oncology, risk factor, 030220 oncology & carcinogenesis, Menarche, Female, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Population, interaction, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, estrogen exposure, Young Adult, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, medicine, Humans, Genetic Predisposition to Disease, Risk factor, education, Aged, Proportional Hazards Models, 030304 developmental biology, BRCA2 Protein, Gynecology, business.industry, Proportional hazards model, Estrogens, medicine.disease, BRCA1, BRCA2, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Mutation, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract: Background: Mutations in BRCA1/2 confer a high risk of breast cancer, but literature values of this risk vary. A genotype–phenotype correlation has been found in both genes, and the effect of reproductive factors differs according to mutation location. Therefore, we hypothesize that such a variation may exist for other factors related to estrogen exposure. Methods: We used a weighted Cox regression model to assess variation in breast cancer risk with these factors using location of mutation in homogeneous breast cancer risk region of BRCA1/2 in the GENEPSO study. Results: We found that late age at menarche reduced breast cancer risk by 31% and that among BRCA1 carriers, a long or a short menstrual cycle increased risk (by 65% and 73%, respectively). Among premenopausal women, overweight was associated with a 45% decrease in risk whereas underweight was associated with an increased risk (HR, 2.40). A natural menopause, mainly after age 50, was associated with a high breast cancer risk (HR, 2.46), and a significant interaction between menopause status and the location of mutations was found leading up to 10% variation in absolute risk according to the age at menopause. Conclusions: As observed in the general population, a late menarche, a long or a short menstrual cycle, over- or underweight, and being postmenopausal were associated with breast cancer risk in BRCA1/2 carriers. The association with the menopause was observed only when the mutation was located in the “high-risk” zones. Impact: Taking into account modifier factors, location of mutation might be important for the clinical management of BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev; 24(4); 698–707. ©2015 AACR.
Published: 2015
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48. Medullary Breast Carcinoma: Prognostic Implications of P53 Expression

Author: Bernard Asselain, P. de Cremoux, J Medioni, Jacques R. Vilcoq, A. de la Rochefordière, Alain Fourquet, Thierry Soussi, Emmanuelle Mouret-Fourme, Alexia Savignoni, R. Dendale, François Campana, and Anne Vincent-Salomon
Subjects: Adult, Oncology, 0301 basic medicine, medicine.medical_specialty, Cancer Research, medicine.medical_treatment, Mammary gland, Clinical Biochemistry, Breast Neoplasms, Pathology and Forensic Medicine, 03 medical and health sciences, Breast cancer, 0302 clinical medicine, Internal medicine, Medullary breast carcinoma, Carcinoma, medicine, Humans, Pathological, Aged, Aged, 80 and over, business.industry, Middle Aged, Genes, p53, Prognosis, medicine.disease, Immunohistochemistry, Surgery, Radiation therapy, medicine.anatomical_structure, 030104 developmental biology, Medullary carcinoma, Carcinoma, Medullary, 030220 oncology & carcinogenesis, Mutation, Female, Tumor Suppressor Protein p53, business, Mastectomy
Abstract: Medullary breast carcinoma (MBC) is a rare pathological type of breast cancer. The rate of p53 protein accumulation is higher in MBC than in common invasive ductal carcinoma. Whether this particular feature of MBC influences the outcome after treatment is unknown. We retrospectively analyzed the characteristics, treatment and outcome of 71 patients with MBC treated between 1981 and 1996. The median age was 51 years (range 27–81) and the median clinical tumor size was 25 mm (range 0-70 mm). Breast-conserving treatment was offered when possible: 55 patients had undergone a tumorectomy and radiotherapy while 16 patients had undergone a mastectomy. p53 protein accumulation was determined by immunohistochemistry on paraffin-embedded tumor specimens from 58/71 samples available for this study. The median follow-up for the 56 survivors was 113 months (range 30–241). The 10-year survival and metastasis-free survival rates were 81% and 81.4%, respectively. The local recurrence rate was 16.4%. The two factors predicting outcome were pathological axillary node involvement in the 60 patients who underwent axillary dissection and adjuvant chemotherapy. p53 accumulation was found in 33/58 patients (57%). p53 status was not predictive of survival nor of distant or local recurrences. We confirm that medullary breast carcinoma has a favorable prognosis despite its aggressive pathological features. p53 protein accumulation, found in the majority of MBCs, was not related to outcome.
Published: 2003
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49. Chimioradiothérapie dans les cancers du col utérin localement évolués. Étude rétrospective de 92 patientes traitées à l’institut Curie de 1986 à 1998

Author: A. de la Rochefordière, Krishna B. Clough, P. Beuzeboc, Emmanuelle Mouret-Fourme, Laurent Chauveinc, D. Nguyen, Jean-Marc Cosset, and M. Guyonnet
Subjects: Gynecology, medicine.medical_specialty, Combined treatment, Uterine cervix, Oncology, business.industry, Advanced stage, Medicine, Radiology, Nuclear Medicine and imaging, business
Abstract: Resume Objectif de l’etude. – Le pronostic des formes avancees de cancer du col uterin reste sombre et le risque de dissemination metastatique et de rechute locale non negligeable. L’analyse des donnees recentes de la litterature a montre que la chimioradiotherapie permettait d’obtenir un meilleur controle local que la radiotherapie seule. Elle pourrait egalement reduire l’incidence des metastases. Nous rapportons notre experience portant sur 92 patientes traitees de 1986 a 1998 a l’institut Curie pour un cancer du col uterin localement evolue. Patientes et methodes. – Toutes les patientes ont recu une chimioradiotherapie et, pour 41 d’entre elles, une chirurgie a pu etre proposee. Quarante-trois pour cent des patientes ont recu une chimiotherapie associant 5-fluoro-uracile-cisplatine-mitomycine C-vindesine (protocole A) et 57 % 5-fluorouracile-cisplatine seuls (protocole B). Resultats. – La duree mediane de surveillance a ete de 64 mois (6–149 mois). Le taux de survie sans evenement etait de 47 % a 5 ans et le taux de controle local de 70 %. Il y avait une correlation entre la survie sans evenement et la reponse therapeutique. Apres radiotherapie exclusive, les patientes en situation de reponse clinique complete avaient un meilleur taux de survie sans evenement (54 contre 26 %, p = 0,018). Apres association radiochirurgicale, les patientes dont l’examen anatomopathologique de la piece operatoire avait montre la sterilisation de la tumeur et des ganglions avaient egalement un meilleur taux de survie (76 contre 47 %, p = 0,036). La toxicite, essentiellement hematologique et digestive, etait plus importante avec le protocole A. Conclusion. – Bien que la chimioradiotherapie dans les cancers du col uterin localement evolues permette une amelioration du taux de controle local, le gain de survie sans evenement reste en revanche sensiblement faible en raison de l’evolution metastatique. Dans notre etude, les metastases isolees restaient en effet frequentes. La chimiotherapie par 5-fluoro-uracile-cisplatine a ete aussi efficace et moins toxique que celle par 5-fluoro-uracile-cisplatine-mitomycine C-vindesine, en association avec la radiotherapie.
Published: 2002
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50. Efficacité de la chimiothérapie néoadjuvante incluant des anthracyclines sur les cancers du sein triple-négatifs des sujets porteurs d’une mutation du gène BRCA1 ou BRCA2

Author: A. Hamimi, Christine Lasset, Olivier Caron, Michel Velten, Paul Gesta, Jean-Pierre Fricker, Alain Lortholary, Laurence Gladieff, Emmanuelle Mouret-Fourme, V. Mari, L. Bignon, Dominique Stoppa-Lyonnet, T. Petit, Laurence Faivre, and Catherine Noguès
Subjects: Epidemiology, Public Health, Environmental and Occupational Health
Abstract: Roles des auteurs L. Bignon, J.-P. Fricker, T. Petit, M. Velten : Conception, Design et Redaction. C. Nogues : Inclusions, Redaction. Etat de la question Estimer la proportion de reponse pathologique complete (pCR) des cancers du sein triple negatifs (CSTN) chez des patientes porteuses d’une mutation deletere du gene BRCA1 ou BRCA2. Comparer la survie globale (SG) et la survie sans maladie (SSM) en fonction de la reponse pathologique. Materiel et methodes Au total, 46 patientes porteuses d’une mutation du gene BRCA1, 6 de BRCA2 et 1 d’une mutation concomitante BRCA1 et BRCA2 ont ete incluses au centre de lutte contre le cancer Paul-Strauss et via la cohorte nationale GENEPSO. Toutes ont presente un CSTN traite par chimiotherapie neoadjuvante comprenant des anthracyclines plus ou moins associees a des taxanes. La methode de Kaplan-Meier et le test du Log-Rank ont ete appliques pour comparer la survie entre les groupes pCR et non-pCR. Resultats Des 54 CSTN inclus, 23 (42 %) ont obtenu une pCR. Ces proportions etaient respectivement de 38,3 % chez les sujets porteurs d’une mutation BRCA1 et de 66 % chez les BRCA2. La mediane de suivi etait de 5,2 ans (de 0,62 a 16,2 ans) et ne differait pas entre les groupes pCR et non pCR (p = 0,45). Au cours du suivi, 15 rechutes et 6 second cancers ont ete identifies. Onze patientes sont decedees uniquement dans le groupe non pCR. Les SG (p
Published: 2017
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