PURPOSE: The debate concerning poorer survival for patients with breast cancer (BC) carrying a BRCA1 germline mutation is unresolved, and requires additional data from population-based studies. PATIENTS AND METHODS: We followed 232 women with invasive BC under age 46, ascertained prospectively through a French population-based BC registry and tested for BRCA1/2 mutations (median follow-up: 82 months). We compared tumour characteristics and survival rates between 21 BRCA1/2 deleterious mutation carriers and 211 non-carriers. RESULTS: As compared to sporadic tumours, BRCA1/2 tumours showed higher grade (P = 0.02), fewer ductal carcinoma in situ (P = 0.02), more frequent medullary histology (P = 0.02), more frequent negative oestrogen and progesterone receptors (P = 0.001 each). At 5 years, BC-specific survival, metastasis-free survival, ipsilateral recurrence-free survival and contralateral BC-free survival rates for BRCA1/2 mutation carriers were 95.0%, 94.7%, 100% and 90.0% respectively, compared with 89.6%, 78.2%, 88.8% and 94.4% respectively, for non-carriers (not significant). Rates for women carrying only a BRCA1 mutation were 93.3%, 93.3%, 100%, 86.7%, respectively. 76% of BRCA1/2 carriers received chemotherapy. CONCLUSION: Despite unfavourable tumour features, we found no evidence for poorer short-term survival in BRCA1 mutation carriers compared to non-carriers in this prospective population-based cohort. The high rate of BRCA1 carriers who received chemotherapy for their BC should question the positive impact of this treatment, as suggested by preclinical studies showing increased chemosensitivity of BRCA1-associated tumours.
PURPOSE: The debate concerning poorer survival for patients with breast cancer (BC) carrying a BRCA1 germline mutation is unresolved, and requires additional data from population-based studies. PATIENTS AND METHODS: We followed 232 women with invasive BC under age 46, ascertained prospectively through a French population-based BC registry and tested for BRCA1/2 mutations (median follow-up: 82 months). We compared tumour characteristics and survival rates between 21 BRCA1/2 deleterious mutation carriers and 211 non-carriers. RESULTS: As compared to sporadic tumours, BRCA1/2 tumours showed higher grade (P = 0.02), fewer ductal carcinoma in situ (P = 0.02), more frequent medullary histology (P = 0.02), more frequent negative oestrogen and progesterone receptors (P = 0.001 each). At 5 years, BC-specific survival, metastasis-free survival, ipsilateral recurrence-free survival and contralateral BC-free survival rates for BRCA1/2 mutation carriers were 95.0%, 94.7%, 100% and 90.0% respectively, compared with 89.6%, 78.2%, 88.8% and 94.4% respectively, for non-carriers (not significant). Rates for women carrying only a BRCA1 mutation were 93.3%, 93.3%, 100%, 86.7%, respectively. 76% of BRCA1/2 carriers received chemotherapy. CONCLUSION: Despite unfavourable tumour features, we found no evidence for poorer short-term survival in BRCA1 mutation carriers compared to non-carriers in this prospective population-based cohort. The high rate of BRCA1 carriers who received chemotherapy for their BC should question the positive impact of this treatment, as suggested by preclinical studies showing increased chemosensitivity of BRCA1-associated tumours.
Authors: Franca Podo; Lutgarde M C Buydens; Hadassa Degani; Riet Hilhorst; Edda Klipp; Ingrid S Gribbestad; Sabine Van Huffel; Hanneke W M van Laarhoven; Jan Luts; Daniel Monleon; Geert J Postma; Nicole Schneiderhan-Marra; Filippo Santoro; Hans Wouters; Hege G Russnes; Therese Sørlie; Elda Tagliabue; Anne-Lise Børresen-Dale Journal: Mol Oncol Date: 2010-04-24 Impact factor: 6.603
Authors: Soley Bayraktar; Angelica M Gutierrez-Barrera; Diane Liu; Tunc Tasbas; Ugur Akar; Jennifer K Litton; E Lin; Constance T Albarracin; Funda Meric-Bernstam; Ana M Gonzalez-Angulo; Gabriel N Hortobagyi; Banu K Arun Journal: Breast Cancer Res Treat Date: 2011-08-10 Impact factor: 4.872
Authors: Antonis C Antoniou; Olga M Sinilnikova; Jacques Simard; Mélanie Léoné; Martine Dumont; Susan L Neuhausen; Jeffery P Struewing; Dominique Stoppa-Lyonnet; Laure Barjhoux; David J Hughes; Isabelle Coupier; Muriel Belotti; Christine Lasset; Valérie Bonadona; Yves-Jean Bignon; Timothy R Rebbeck; Theresa Wagner; Henry T Lynch; Susan M Domchek; Katherine L Nathanson; Judy E Garber; Jeffrey Weitzel; Steven A Narod; Gail Tomlinson; Olufunmilayo I Olopade; Andrew Godwin; Claudine Isaacs; Anna Jakubowska; Jan Lubinski; Jacek Gronwald; Bohdan Górski; Tomasz Byrski; Tomasz Huzarski; Susan Peock; Margaret Cook; Caroline Baynes; Alexandra Murray; Mark Rogers; Peter A Daly; Huw Dorkins; Rita K Schmutzler; Beatrix Versmold; Christoph Engel; Alfons Meindl; Norbert Arnold; Dieter Niederacher; Helmut Deissler; Amanda B Spurdle; Xiaoqing Chen; Nicola Waddell; Nicole Cloonan; Tomas Kirchhoff; Kenneth Offit; Eitan Friedman; Bella Kaufmann; Yael Laitman; Gilli Galore; Gad Rennert; Flavio Lejbkowicz; Leon Raskin; Irene L Andrulis; Eduard Ilyushik; Hilmi Ozcelik; Peter Devilee; Maaike P G Vreeswijk; Mark H Greene; Sheila A Prindiville; Ana Osorio; Javier Benitez; Michal Zikan; Csilla I Szabo; Outi Kilpivaara; Heli Nevanlinna; Ute Hamann; Francine Durocher; Adalgeir Arason; Fergus J Couch; Douglas F Easton; Georgia Chenevix-Trench Journal: Am J Hum Genet Date: 2007-10-16 Impact factor: 11.025
Authors: S Bayraktar; A M Gutierrez-Barrera; H Lin; N Elsayegh; T Tasbas; J K Litton; N K Ibrahim; P K Morrow; M Green; V Valero; D J Booser; G N Hortobagyi; B K Arun Journal: Clin Exp Metastasis Date: 2013-02-01 Impact factor: 5.150