Various guidelines recommend that women with triple-negative breast cancer should be tested for BRCA1 mutations, but the prevalence of mutations may vary with ethnic group and with geographic region, and the optimal cutoff age for testing has not been established. We estimated the frequencies of BRCA1 and BRCA2 (BRCA) mutations among 190 women with triple-negative breast cancer, unselected for family history, diagnosed at age 50 or less at a single hospital in Mexico City. Patients were screened for 115 recurrent BRCA mutations, which have been reported previously in women of Hispanic origin, including a common large rearrangement Mexican founder mutation (BRCA1 ex9-12del). A BRCA mutation was detected in 44 of 190 patients with triple-negative breast cancer (23 %). Forty-three mutations were found in BRCA1 and one mutation was found in BRCA2. Seven different mutations accounted for 39 patients (89 % of the total mutations). The Mexican founder mutation (BRCA1 ex9-12del) was found 18 times and accounted for 41 % of all mutations detected. There is a high prevalence of BRCA1 mutations among young triple-negative breast cancer patients in Mexico. Women with triple-negative breast cancer in Mexico should be screened for mutations in BRCA1.

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BackgroundAntiphospholipid syndrome (APS) is a multisystemic autoimmune disease that is characterized by thromboembolic events, pregnancy morbidity and other manifestations in the presence of elevated titers of antiphospholipid antibodies.(1)APS can be either primary, occurring as an isolated clinical entity, or secondary to other diseases including infections, malignancy or autoimmunity, the latter associated in particular with systemic lupus erythematosus (SLE).(1)Patients with SLE can produce a great variety of autoantibodies, including the so called antiphospholipid antibodies (aPLs), such as lupus anticoagulant (LA); anti-cardiolipin antibodies (aCL) or anti-β2Glycoprotein-I antibodies (anti-β2GPI).(2) These aPLs have been described in 20-40% of SLE patients.ObjectivesTo report frequency of patients with antiphospholipid syndrome secondary to pediatric systemic lupus erythematosus (pSLE) at National Institute of Pediatrics in Mexico City from 2005-2016. In addition, describe their clinical manifestations and laboratory features.MethodsRetrospective study that included all pediatric systemic lupus erythematosus (pSLE) patients diagnosed at National Institute of Pediatrics in Mexico City from 2005 to 2016. We then identified patients with positive antiphospholipid antibodies (aPLs) and/or clinical manifestation of antiphospholipid syndrome (APS). Demographic, clinical and laboratory features were extracted from their clinical records. Study approved by the local Ethics Committee.ResultsOver the 12-year study period, we collected 295 patients with a new diagnosis of pediatric systemic lupus erythematosus (pSLE). Eighty patients (27.11%) had at least a positive antiphospholipid antibody (aPL) or a clinical manifestation of antiphospholipid syndrome (APS). Figure 1 shows our study population. Of these 80 patients, 75 (93.75%) had a positive aPL at moment of pSLE. With respect to the remaining 5 cases, 3 of them developed a positive aPL during follow-up, while the remaining 2 cases presented a clinical feature of APS simultaneously to pSLE diagnosis and their serology persisted negative during follow-up.Twenty (25%) patients had a clinical manifestation associated to APS. Concerning these patients, 11 (55%) patients presented clinical features of APS at time of pSLE diagnosis, 6 (30%) patients developed it during follow-up and the remaining 3 (15%) patients had previous history of a clinical manifestation associated to APS prior to pSLE diagnosis. Nevertheless, 2 of these 20 patients never reported positive antiphospholipid antibodies.According to clinical manifestations 11 (55%) patients had venous thrombosis, 7 (35%) patients with arterial thrombosis, one patient identified with chorea and one showed evidence of thrombosis in a skin biopsy.Characteristics of the patients are shown in Table 1.ConclusionAntiphospholipid syndrome (APS) secondary to pediatric systemic lupus erythematosus (pSLE) is a very common entity and is increasingly diagnosed. This study allowed us to report frequency and describe clinical manif...

634 Background: Neoadjuvant treatment identifies subgroups of patients (pts) with different prognosis. In HER2+ BC, some tumors have been reported to be more sensitive to anti-HER2 therapy than others. We conducted an exploratory analysis in HER2+ BC women who received T-based neoadjuvant chemotherapy. Methods: Clinico-pathologic data from HER2+ BC pts who received neoadjuvant chemotherapy and T between January 2007 and May 2012 at the NCI were identified. Estrogen receptor (ER), progesterone receptor (PR) and HER2 expression were determined by immunohistochemistry and/or FISH. pCR was defined as complete absence of invasive tumor in breast and axillary nodes. Proportion differences were tested using the Chi-square test. A generalized linear model was used for multivariate analysis. Results: 243 pts received T-based neoadjuvant chemotherapy for localized HER2+ BC tumors. Median age was 49 (26-72) years. 96% had positive axillary nodes at diagnosis and median tumor size was 5.5 (1.5-20) cm. 49.4% had hormone receptor (HR) + (ER+ and/or PR+) and 50.6% HR negative (ER- and PR-) tumors. 63.4% pts achieved pCR. HR negative tumors reached significantly higher pCR rates than HR + tumors (69.9% vs. 56.7%, p=0.034). Pts with inflammatory BC (n=27) had a trend to achieve pCR less frequently than the non-inflammatory tumors (48.1% vs. 65.3%). Those who received taxane-anthracyline sequence chemotherapy (n=20) achieved pCR in 70% of the cases vs. 62.8% with anthracycline-taxane sequence. Differences among other variables (age, tumor size, nodes and HER2 positivity ++/+++) were not significant. Variables that positively influenced pCR were HR negative status (p=0.015), non-inflammatory BC (p=0.082) and chemotherapy sequence (p=0.086). Conclusions: HR negative HER2+ BC tumors were associated with higher pCR, consistent with neoadjuvant trial reports. Preclinical data suggest bi-directional crosstalk between HER2 and ER pathways, which might influence anti-HER2 agents and chemotherapy sensitivity for tumors co-expressing both receptors. New strategies are needed to overcome resistance for HER2+ HR+ BC tumors.