BACKGROUND: In vitro and in vivo analyses have shown differences in chemosensitivity between breast cancers associated with BRCA1/2 mutations compared to sporadic variants. In the preoperative setting, the tumor response can be directly measured. Therefore, preoperative systemic treatment (PST) offers the opportunity to assess the chemosensitivity in vivo. However, there have been neither clear guidelines for mutation carriers in terms of choice of chemotherapy regimen nor recommendations how to proceed in case of an inadequate response to PST. CASE REPORT: Herein, we present the history of a 39-year-old woman with bilateral breast cancer who was tested positive for germ-line BRCA1 mutation while under PST. We performed a comprehensive literature review covering the MEDLINE database from 1992 to 2010 on published data regarding PST options for BRCA mutation carriers. CONCLUSIONS: If results of genetic testing are obtained during PST, individual therapy adaptations can be discussed with respect to mainly retrospective data of response to specific drugs. However, larger studies with longer follow-up are eagerly needed to draw firm conclusions before any specific treatment recommendations can be given for BRCA mutation carriers. PST is an ideal setting to evaluate such treatment options and to describe predictive markers that can help define subgroups that benefit most.
BACKGROUND: In vitro and in vivo analyses have shown differences in chemosensitivity between breast cancers associated with BRCA1/2 mutations compared to sporadic variants. In the preoperative setting, the tumor response can be directly measured. Therefore, preoperative systemic treatment (PST) offers the opportunity to assess the chemosensitivity in vivo. However, there have been neither clear guidelines for mutation carriers in terms of choice of chemotherapy regimen nor recommendations how to proceed in case of an inadequate response to PST. CASE REPORT: Herein, we present the history of a 39-year-old woman with bilateral breast cancer who was tested positive for germ-line BRCA1 mutation while under PST. We performed a comprehensive literature review covering the MEDLINE database from 1992 to 2010 on published data regarding PST options for BRCA mutation carriers. CONCLUSIONS: If results of genetic testing are obtained during PST, individual therapy adaptations can be discussed with respect to mainly retrospective data of response to specific drugs. However, larger studies with longer follow-up are eagerly needed to draw firm conclusions before any specific treatment recommendations can be given for BRCA mutation carriers. PST is an ideal setting to evaluate such treatment options and to describe predictive markers that can help define subgroups that benefit most.
Authors: Tomasz Byrski; Jacek Gronwald; Tomasz Huzarski; Ewa Grzybowska; Magdalena Budryk; Malgorzata Stawicka; Tomasz Mierzwa; Marek Szwiec; Rafal Wisniowski; Monika Siolek; Rebecca Dent; Jan Lubinski; Steven Narod Journal: J Clin Oncol Date: 2009-12-14 Impact factor: 44.544
Authors: Cornelia Liedtke; Chafika Mazouni; Kenneth R Hess; Fabrice André; Attila Tordai; Jaime A Mejia; W Fraser Symmans; Ana M Gonzalez-Angulo; Bryan Hennessy; Marjorie Green; Massimo Cristofanilli; Gabriel N Hortobagyi; Lajos Pusztai Journal: J Clin Oncol Date: 2008-02-04 Impact factor: 44.544
Authors: P Freneaux; D Stoppa-Lyonnet; E Mouret; M Kambouchner; A Nicolas; B Zafrani; A Vincent-Salomon; A Fourquet; H Magdelenat; X Sastre-Garau Journal: Br J Cancer Date: 2000-11 Impact factor: 7.640
Authors: Richard D Kennedy; Jennifer E Quinn; Paul B Mullan; Patrick G Johnston; D Paul Harkin Journal: J Natl Cancer Inst Date: 2004-11-17 Impact factor: 13.506