S. Chen and G. Parmigiani, Meta-analysis of BRCA1 and BRCA2 penetrance, J Clin Oncol, vol.25, pp.1329-1333, 2007.

N. Mavaddat, S. Peock, D. Frost, S. Ellis, R. Platte et al., Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE, JNCI J Natl Cancer Inst, vol.105, pp.812-834, 2013.

N. Mavaddat, D. Barrowdale, I. L. Andrulis, S. M. Domchek, D. Eccles et al., Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), Cancer Epidemiol Biomark Prev Publ Am Assoc Cancer Res Cosponsored Am Soc Prev Oncol, vol.21, pp.134-181, 2012.

D. Mauri, N. Pavlidis, and J. Ioannidis, Neoadjuvant versus adjuvant systemic treatment in breast cancer: a meta-analysis, J Natl Cancer Inst, vol.97, pp.188-94, 2005.

B. Ataseven, G. Minckwitz, and . Von, The Impact of Neoadjuvant Treatment on Surgical Options and Outcomes, Ann Surg Oncol, vol.23, pp.3093-3102, 2016.

, Recommendations from an International Consensus Conference on the Current Status and Future of Neoadjuvant Systemic Therapy in Primary Breast Cancer | SpringerLink

P. Pujol, P. Vande-perre, L. Faivre, D. Sanlaville, C. Corsini et al., Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations, Eur J Hum Genet, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01870352

D. Sur,

D. M. Sataloff, B. A. Mason, A. J. Prestipino, U. L. Seinige, C. P. Lieber et al., Institut national de la santé et de la recherche médicale, Fédération nationale des centres de lutte contre le cancer (France). Risques héréditaires de cancers du sein et de l'ovaire quelle prise en charge, J Am Coll Surg, vol.180, pp.297-306, 1995.

B. Disponible-sur-;-bonaïti, F. Alarcon, V. Bonadona, S. Pennec, N. Andrieu et al.,

, Nouveau système de score pour le diagnostic des prédispositions aux cancers du sein et de l'ovaire associées à BRCA1/2, Bull Cancer (Paris), vol.98, pp.779-95, 2011.

A. Tutt, B. Kaufman, R. D. Gelber, E. Mc-fadden, C. D. Goessl et al., A randomized phase III trial of olaparib as adjuvant therapy in patients with high-risk HER2-negative breast cancer (BC) and a germline BRCA1/2 mutation (gBRCAm), J Clin Oncol, vol.33, pp.1109-1109, 2015.

C. A. Hudis, W. E. Barlow, J. P. Costantino, R. J. Gray, K. I. Pritchard et al., Proposal for standardized definitions for efficacy end points in adjuvant breast cancer trials: the STEEP system, J Clin Oncol Off J Am Soc Clin Oncol, vol.25, pp.2127-2159, 2007.

M. Wunderle, P. Gass, L. Häberle, V. M. Flesch, C. Rauh et al., BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients, Breast Cancer Res Treat, vol.171, pp.85-94, 2018.

P. A. Fasching, S. Loibl, H. Eidtmann, H. Tesch, M. Untch et al., Abstract S5-06: BRCA mutations, therapy response and prognosis in the neoadjuvant GeparQuinto study, Cancer Res, vol.76, pp.5-06, 2016.

, Prédispositions génétiques -Facteurs de risque | Institut National Du Cancer

D. Sur,

N. Tung, C. Battelli, B. Allen, R. Kaldate, S. Bhatnagar et al., Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel, Cancer, vol.121, pp.25-33, 2015.

D. F. Easton, P. Pharoah, A. C. Antoniou, M. Tischkowitz, S. V. Tavtigian et al., Gene-panel sequencing and the prediction of breast-cancer risk, N Engl J Med, vol.372, pp.2243-57, 2015.

F. J. Couch, H. Shimelis, C. Hu, S. N. Hart, E. C. Polley et al., Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer, JAMA Oncol, vol.3, pp.1190-1196, 2017.
DOI : 10.1001/jamaoncol.2017.0424

URL : https://jamanetwork.com/journals/jamaoncology/articlepdf/2618073/jamaoncology_couch_2017_oi_170012.pdf

T. R. Lester, K. K. Hunt, K. M. Nayeemuddin, R. L. Bassett, A. M. Gonzalez-angulo et al., Metaplastic sarcomatoid carcinoma of the breast appears more aggressive than other triple receptor-negative breast cancers, Breast Cancer Res Treat, vol.131, pp.41-49, 2012.

G. Bougeard, M. Renaux-petel, J. Flaman, C. Charbonnier, P. Fermey et al.,

R. Li-fraumeni, Syndrome From TP53 Mutation Carriers, J Clin Oncol Off J Am Soc Clin Oncol, vol.33, pp.2345-52, 2015.

S. Heymann, S. Delaloge, A. Rahal, O. Caron, T. Frebourg et al., Radioinduced malignancies after breast cancer postoperative radiotherapy in patients with LiFraumeni syndrome, Radiat Oncol Lond Engl, vol.5, p.104, 2010.
DOI : 10.1186/1748-717x-5-104

URL : https://ro-journal.biomedcentral.com/track/pdf/10.1186/1748-717X-5-104

K. R. Bauer, M. Brown, R. D. Cress, C. A. Parise, and V. Caggiano, Descriptive analysis of estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, and HER2-negative invasive breast cancer, the so-called triple-negative phenotype, Cancer, vol.109, pp.1721-1729, 2007.

A. Antoniou, P. Pharoah, S. Narod, H. A. Risch, J. E. Eyfjord et al., Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies, Am J Hum Genet, vol.72, pp.1117-1147, 2003.

B. Arun, K. J. Vogel, A. Lopez, M. Hernandez, D. Atchley et al., High prevalence of preinvasive lesions adjacent to BRCA1/2-associated breast cancers, Cancer Prev Res Phila Pa, vol.2, pp.122-129, 2009.

L. J. Pierce, K. Phillips, K. A. Griffith, S. Buys, D. K. Gaffney et al., Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy, Breast Cancer Res Treat, vol.121, pp.389-98, 2010.

D. P. Atchley, C. T. Albarracin, A. Lopez, V. Valero, C. I. Amos et al., Clinical and pathologic characteristics of patients with BRCA-positive and BRCAnegative breast cancer, J Clin Oncol Off J Am Soc Clin Oncol, vol.26, pp.4282-4290, 2008.

A. C. Wolff, M. Hammond, D. G. Hicks, M. Dowsett, L. M. Mcshane et al., Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update, J Clin Oncol Off J Am Soc Clin Oncol, vol.31, pp.3997-4013, 2013.

S. Park, J. E. Lee, J. M. Ryu, I. Kim, S. Y. Bae et al., Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer, World J Surg, vol.42, pp.1384-90, 2018.
DOI : 10.1007/s00268-017-4342-7

A. Chiba, T. L. Hoskin, E. J. Hallberg, J. A. Cogswell, C. N. Heins et al., Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer, Patient Educ Couns, vol.23, pp.89-95, 2012.

M. R. Wevers, N. K. Aaronson, E. Bleiker, D. Hahn, T. Brouwer et al., Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making, J Surg Oncol, vol.116, pp.1029-1068, 2017.

A. H. Trainer, C. R. Lewis, K. Tucker, B. Meiser, M. Friedlander et al., The role of BRCA mutation testing in determining breast cancer therapy, Nat Rev Clin Oncol, vol.7, pp.708-725, 2010.

A. Valachis, A. D. Nearchou, and P. Lind, Surgical management of breast cancer in BRCAmutation carriers: a systematic review and meta-analysis, Breast Cancer Res Treat, vol.144, pp.443-55, 2014.

L. Bordeleau, S. Panchal, and P. Goodwin, Prognosis of BRCA-associated breast cancer: a summary of evidence, Breast Cancer Res Treat, vol.119, pp.13-24, 2010.

C. A. Hudis, W. E. Barlow, J. P. Costantino, R. J. Gray, K. I. Pritchard et al., Proposal for Standardized Definitions for Efficacy End Points in Adjuvant Breast Cancer Trials: The STEEP System, J Clin Oncol, vol.25, pp.2127-2159, 2007.

B. G. Haffty, H. E. Khan, A. J. Pathare, P. Smith, T. E. Turner et al., Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status, Lancet Lond Engl, vol.359, pp.1471-1478, 2002.

K. Metcalfe, H. T. Lynch, P. Ghadirian, N. Tung, C. Kim-sing et al., Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers, Breast Cancer Res Treat, vol.127, pp.287-96, 2011.

G. Nègre, T. Balcaen, R. Sinna, and E. Chazard, En France, une minorité de femmes bénéficient d'une reconstruction mammaire après mastectomie pour cancer du sein, Rev DÉpidémiologie Santé Publique, vol.66, p.19, 2018.

C. R. Albornoz, P. B. Bach, B. J. Mehrara, J. J. Disa, A. L. Pusic et al., A paradigm shift in U.S. Breast reconstruction: increasing implant rates, Plast Reconstr Surg, vol.131, pp.15-23, 2013.

B. Jabo, A. C. Lin, M. A. Aljehani, J. L. Morgan, J. W. Selleck et al., Impact of Breast Reconstruction on Time to Definitive Surgical Treatment, Adjuvant Therapy, and Breast Cancer Outcomes, Ann Surg Oncol, vol.44, 2018.

E. R. Copson, T. C. Maishman, W. J. Tapper, R. I. Cutress, S. Greville-heygate et al., Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study, Worse Breast Cancer Prognosis of BRCA1/BRCA2 Mutation Carriers: What's the Evidence? A Systematic Review with Meta-Analysis. PLoS ONE, vol.10, pp.169-80, 2015.

P. A. Fasching, Breast cancer in young women: do BRCA1 or BRCA2 mutations matter?, Lancet Oncol, vol.19, pp.150-151, 2018.

E. Hahnen, B. Lederer, J. Hauke, S. Loibl, S. Kröber et al., Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in TripleNegative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial, JAMA Oncol, vol.3, pp.1378-85, 2017.

K. L. Bolton, G. Chenevix-trench, C. Goh, S. Sadetzki, S. J. Ramus et al., Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer, JAMA, vol.307, pp.382-90, 2012.

F. J. Candido-dos-reis, H. Song, E. L. Goode, J. M. Cunningham, B. L. Fridley et al., Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer, Clin Cancer Res Off J Am Assoc Cancer Res, vol.21, pp.652-659, 2015.

J. A. Ledermann, P. Harter, C. Gourley, M. Friedlander, I. Vergote et al., Overall survival in patients with platinum-sensitive recurrent serous ovarian cancer receiving olaparib maintenance monotherapy: an updated analysis from a randomised, placebo-controlled, double-blind, phase 2 trial, Lancet Oncol, vol.17, pp.1579-89, 2016.

, FDA Approves First Treatment for Breast Cancer With a Certain Inherited Genetic Mutation

. Practiceupdate, , 2018.

M. Robson, S. Im, E. Senkus, B. Xu, S. M. Domchek et al., Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation, N Engl J Med, vol.377, pp.523-556, 2017.

R. Contexte, Les patientes porteuses d'une mutation sur les gènes BRCA 1, 2 ont plus de rechute locale (RL) après 5 ans et de rechute controlatérale (RCL)

. Objectif, Comparer les taux de RL et RCL après CNA pour tumeur du sein localement avancée, entre une population porteuse ou non de mutation des gènes de prédisposition

, Seules les patientes traitées par CNA pour tumeur mammaire localement avancée avec recherche de mutation des gènes BRCA au minimum élargie à un panel de 25 gènes, ont été sélectionnées. Résultats: 122 patientes ont été incluses. 28 patientes sont porteuses d'une mutation, 2007.

, Après chirurgie conservatrice, trois patientes porteuses de mutations ont eu une RL

, BRCA 2) sur 15 et deux patientes non porteuses de mutation sur 67, BRCA1, issue.0403, p.0

L. Délai-médian-de and L. ,

, Conclusion: Après CNA et chirurgie conservatrice, les patientes porteuses d'une mutation sur les gènes de prédisposition ont plus de rechute locale du cancer du sein avant 5 ans