The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil, we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast cancer from a large public hospital and two private medical clinics in the city. A detailed family history was obtained from each patient and a blood sample was obtained for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. Overall, nine mutations were identified (six in BRCA1 and three in BRCA2) representing 2.3% of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56% of all identified mutations. A second mutation, in BRCA2 (6633del5) was seen in two unrelated women. In summary, BRCA1 and BRCA2 mutations are not uncommon in Brazilian women with breast cancer. It appears that a small number of founder mutations may be predominant. Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil.

A founder allele in the CHEK2 gene (1100delC) has been associated with an elevated risk of breast cancer. This allele is responsible for the majority of CHEK2-associated breast cancers in women from northern European countries; however, within Europe, it seems to be rare in countries that are close to the Mediterranean. The frequency of the 1100delC allele has not been measured in non-White populations. We measured the frequency of the CHEK2 founder allele in 3,882 breast cancer patients and 8,609 controls from various countries. The allele was not seen among Asian patients ( from Pakistan or the Philippines) and was present in 1 of 155 cases from Brazil. Among White women, the allele was present in 1.5% of 825 familial cases of breast cancer and in 0.7% of 1,106 patients with nonfamilial breast cancer. The allele was equally frequent in Jewish and non-Jewish patients. We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of f24% in

This study reports the reliability and validity of the Brazilian Portuguese version of QLQ-LC13. After translation and cross-cultural adaptation, the questionnaire was administered, together with the QLQ-C30 core questionnaire, to 82 patients with lung cancer. The analysis was based on 60 patients who completed two interviews, and who received chemotherapy alone or in combination with radiotherapy. The reliability or internal consistency of dyspnea scale was 0.79. The pain scale needed to be combined with the QLQ-C30 pain items to reach a satisfactory value of 0.73. The construct validity was supported by the ability of the questionnaire to discriminate patients regarding their performance status and type of treatment. However, the change over time, although in the expected direction for all items, was statistically significant in four of the 10 items studied. The criterion-related validity was supported by the statistically significant correlation between all four side effect items and the physicians' reports of toxicity, while the evolutive changes in the performance status were statistically significant in only four items. Most psychometric properties of the Brazilian version of the QLQ-LC13 were adequately supported in this analysis. However, a wider utilization of this module is necessary to fully ascertain its reliability and validity properties.

BackgroundGermline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the R337H mutation in TP53. The relatively high population frequency of this mutation in southern Brazil, along with the clustering of early onset breast cancer in Li-Frameni families, suggests this mutation may also be a low-penetrance breast cancer susceptibility polymorphism.MethodsWe undertook this study to evaluate the frequency of the R337H mutation in breast cancer patients from Rio de Janeiro, Brazil. R337H mutation status was determined in 390 unselected breast cases and 324 controls identified from clinics in Rio de Janeiro, Brazil using a PCR-based assay.ResultsTwo of the breast cancer cases (0.5%) and none of the controls carried the mutation. Both cases had an early age at diagnosis (< 40 years old) and a family history of breast and other cancers.ConclusionsThese data suggest genetic screening of young onset breast cancer patients should include testing for the R337H mutation.

Germ-line mutations in the TP53 gene are rare, but predispose women to a range of cancer types, including early-onset breast cancer. Breast cancers in women from families with the Li-Fraumeni syndrome often occur before age 30. The prevalence of deleterious TP53 mutations in unselected women with early-onset breast cancer is not precisely known. If mutations were found to be sufficiently common, it might be prudent to offer genetic testing to affected women in this age group. We screened the entire TP53 gene in the germ-line DNA from 95 women of various ethnic groups who were diagnosed with breast cancer before age 30, and who had previously been found to be negative for BRCA1 and BRCA2 mutations. No TP53 mutation was found. This study does not support a policy that TP53 testing should be offered routinely to unselected women with early-onset breast cancer in the absence of a family history of cancer.

Introduction Breast Cancer (BC) is a neoplasm with the highest prevalence in women in Brazil and worldwide. Pregnancy-associated with BC is defined as that which occurs during pregnancy or within 1 to 2 years postpartum. The objective is to present a clinical case of a young patient with a history of familial BC who had cancer during pregnancy. The patient had cardiotoxicity after using doxorubicin and trastuzumab. Case report She was a young patient within infiltrating ductal carcinoma in the right breast She was diagnosed within nine weeks of gestation and submitted to neoadjuvant chemotherapy with AC protocol (doxorubicina and cyclophosphamide) and mastectomy. Developed left atrial overload after treatment and still responding to hypersensitivity to trastuzumab. Management and outcome The patient presented an alteration in the electrocardiogram (ECG) after the use of doxorubicin. The exam was repeated and the ECG was normal. Trastuzumab was started after delivery and the patient had a hypersensitivity reaction. Administration of trastuzumab was stopped and hydrocortisone was administered. The patient showed improvement in symptoms with cessation of trastuzumab. Discussion Although anthracycline-induced cardiotoxicity and hypersensitivity reactions to trastuzumab are common reactions, there are few studies on the effects of these drugs in patients with Gestational breast cancer (GBC). Monitoring cardiotoxicity in breast cancer treatment in pregnant patients is essential to avoid two complications: for the pregnant woman and the fetus.

Os autores documentam cinco casos de pacientes femininas portadoras de câncer de mama com disseminação ocular. Na série, quatro pacientes já apresentavam doença sistêmica no momento da comprovação de metástase ocular, enquanto uma apresentou lesão orbitária como manifestação inicial de tumor mamário não identificado previamente. A idade na época do diagnóstico de carcinoma de mama variou de 36 a 48 anos. O intervalo entre o diagnóstico de câncer de mama e o surgimento dos sinais e sintomas oculares variou de zero a 128 meses, com média de 60 meses. O intervalo entre o diagnóstico e a recidiva da doença variou de 13 a 132 meses e entre esta e o óbito variou de 4 a 50 meses. Neste estudo duas pacientes receberam quimioterapia; e as demais, a associação de quimioterapia e radioterapia. É importante assinalar que duas mulheres desenvolveram metástases oculares em vigência de quimioterapia. Embora a sensibilidade da metástase à radioterapia esteja bem documentada em vários estudos, há poucas publicações que comprovam a eficácia da quimioterapia.

The use of capecitabine is associated with hand-foot syndrome (HFS). Since there is anecdotal evidence that lanolin-based creams and topical steroids are useful for the treatment of HFS, we conducted a three-arm phase III trial to compare observation, lanolin-based cream with dexpanthenol (L-D), and topical hydrocortisone in the prevention of HFS. Material and Methods: Patients with breast or colorectal cancer with indication to use capecitabine as a single agent or in combination were randomized in an open-label fashion to one of the three arms. The initial capecitabine dose was 1,000 or 1,250mg/m 2 , according to the physicians discretion and clinical practice, and dose adjustments followed the local label. The primary endpoint was the frequency of HFS of any grade in the intent-to-treat population, whereas quality of life (QoL), change from baseline in performance status and adverse events were secondary endpoints. Results: Mean age among the 595 patients randomized was 58 years, and 69% were women. 37% of patients had advanced breast cancer and 63% of patients had colorectal cancer. Capecitabine was used as a single agent in 67% of patients; among the remaining 33% of patients, 82% were treated with oxaliplatin-based combinations. HFS of any grade was seen in 35.6% of patients in the observation group, 24.9% with L-D, and 34.3% with hydrocortisone (p=0.039). The unadjusted odds ratio for the frequency of HFS in the arm treated with L-D was 0.60 (95%CI, 0.39 to 0.92).