Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.

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Background: Cervical cancer is still a major public health problem in developing countries, where are observed high mortality rates and poor survival rates. Treatment delays may influence survival and have been associated to poor health care access and quality of care. Aim: To estimate treatment delays, and associated factors among women diagnosed with cervical cancer, treated on the main cancer center in Rio de Janeiro, Brazil. Methods: A retrospective cohort study comprising 865 women newly diagnosed with cervical cancer between 2012 and 2014 was accomplished. Times from diagnose to treatment initiation (≤ 60 > days), and from diagnose to treatment ending (< 120 ≥ days) were analyzed according to the Brazilian law for cancer patient treatment. Association between delays on treatment and sociodemographic, economic, life style, clinical and treatment variables were estimated using logistic regression model, with 95% confidential interval. Results: Mean age was 48 (± 13.7) and median was 47 years old; 36.2% had stage IIIB-IVA. Median time from diagnose to treatment initiation was 114 days, being statistically lower among women with stage IIB-IVA (205.5 days) as compared with those with earlier stages (119 days). Delay at treatment initiation was 92.8%. Median time from diagnose to treatment ending was 274 days, with a delay (> 120 days) of 92.6%. Median time interval from diagnosis to 1st visit at cancer center was 28 days, with a delay over 30 days of 46.6%. Age (OR=1.05; 95% CI:1.02-1.08), stage IIIB-IVA (OR=0.38; 95% CI: 0.16-0.90), time to first visit at cancer center (OR=11.52; 95% CI: 4.32-30.66), chemo radiation treatment (OR=4.56; 95% CI: 1.81-11.47) and adequate treatment (OR=2.57; 95% CI: 1.26-5.40) were independently associated with delay on treatment initiation. Conclusion: Increased treatment initiation and ending delays were observed in this studied population. Delay on treatment initiation was positively associated with age, time interval over 30 days from diagnosis to 1st visit at the cancer, treatment with chemo radiation, and adequate treatment.