Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

PURPOSE: There is a paucity of data on the spectrum and prevalence of pathogenic variants among women of African ancestry in the Northeast region of Brazil. METHODS: We performed BROCA panel sequencing to identify inherited loss-of-function variants in breast cancer susceptibility genes among 292 Brazilian women referred to a single institution cancer risk assessment program. RESULTS: The study included a convenient cohort of 173 women with invasive breast cancer (cases) and 119 women who were cancer-free at the time of ascertainment. The majority of the women self-reported as African-descended (67% for cases and 90.8% for unaffected volunteers). Thirty-seven pathogenic variants were found in 36 (20.8%) patients. While the spectrum of pathogenic variants was heterogeneous, the majority (70.3%) of the pathogenic variants were detected in high-risk genes BRCA1, BRCA2, PALB2, and TP53. Pathogenic variants were also found in the ATM, BARD1, BRIP1, FAM175A, FANCM, NBN, and SLX4 genes in 6.4% of the affected women. Four recurrent pathogenic variants were detected in 11 patients of African ancestry. Only one unaffected woman had a pathogenic variant in the RAD51C gene. Different risk assessment models examined performed well in predicting risk of carrying germline loss-of-function variants in BRCA1 and/or BRCA2 in breast cancer cases. CONCLUSION: The high prevalence and heterogenous spectrum of pathogenic variants identified among self-reported African descendants in Northeast Brazil is consistent with studies in other African ancestry populations with a high burden of aggressive young onset breast cancer. It underscores the need to integrate comprehensive cancer risk assessment and genomic testing in the management of newly diagnosed Black women with breast cancer across the African Diaspora, enabling improved cancer control in admixed underserved and understudied populations.

Landscape Visual Quality and Meiofauna Biodiversity on Sandy Beaches.

Sandy beaches are central economic assets, attracting more recreational users than other coastal ecosystems. However, urbanization and landscape modification can compromise both the functional integrity and the attractiveness of beach ecosystems. Our study aimed at investigating the relationship between sandy beach artificialization and the landscape perception by the users, and between sandy beach visual attractiveness and biodiversity. We conducted visual and biodiversity assessments of urbanized and semiurbanized sandy beaches in Brazil and Uruguay. We specifically examined meiofauna as an indicator of biodiversity. We hypothesized that urbanization of sandy beaches results in a higher number of landscape detractors that negatively affect user evaluation, and that lower-rated beach units support lower levels of biodiversity. We found that urbanized beach units were rated lower than semiurbanized units, indicating that visual quality was sensitive to human interventions. Our expectations regarding the relationship between landscape perception and biodiversity were only partially met; only few structural and functional descriptors of meiofauna assemblages differed among classes of visual quality. However, lower-rated beach units exhibited signs of lower environmental quality, indicated by higher oligochaete densities and significant differences in meiofauna structure. We conclude that managing sandy beaches needs to advance beyond assessment of aesthetic parameters to also include the structure and function of beach ecosystems. Use of such supporting tools for managing sandy beaches is particularly important in view of sea level rise and increasing coastal development.

Lymphocyte subset reference intervals in blood donors from northeastern Brazil.

UNLABELLED: The reference intervals for leukocytes and lymphocytes currently used by most clinical laboratories present limitations as they are primarily derived from individuals of North American and European origin. The objective this study was to determine reference values for peripheral blood B lymphocytes, T lymphocyte subsets (CD4+, CD8+, naïve, memory, regulatory, TCRαß and TCRγδ+) and NK cells from blood donors in Salvador-Bahia, Brazil. RESULTS: The proportion of included male subjects was 73.7% and the median ages of males (34) and females (35) were found to be similar. Absolute counts total lymphocytes subsets to both gender was 1,956 (1,060-4,186) cells and relative values 34%. The T CD4+ and T CD8+ lymphocytes relative values was 51% (20-62) and 24% (9-28), respectively. The most statistically significant finding observed was a higher percentage of B lymphocytes (p=0.03) in females. Commonly cited subset reference intervals were found to be consistent with values in several populations from different geographic areas.

Bivariate and multivariate analyses of the influence of blood variables of patients submitted to Roux-en-Y gastric bypass on the stability of erythrocyte membrane against the chaotropic action of ethanol.

The stability of the erythrocyte membrane, which is essential for the maintenance of cell functions, occurs in a critical region of fluidity, which depends largely on its composition and the composition and characteristics of the medium. As the composition of the erythrocyte membrane is influenced by several blood variables, the stability of the erythrocyte membrane must have relations with them. The present study aimed to evaluate, by bivariate and multivariate statistical analyses, the correlations and causal relationships between hematologic and biochemical variables and the stability of the erythrocyte membrane against the chaotropic action of ethanol. The validity of this type of analysis depends on the homogeneity of the population and on the variability of the studied parameters, conditions that can be filled by patients who undergo bariatric surgery by the technique of Roux-en-Y gastric bypass since they will suffer feeding restrictions that have great impact on their blood composition. Pathway analysis revealed that an increase in hemoglobin leads to decreased stability of the cell, probably through a process mediated by an increase in mean corpuscular volume. Furthermore, an increase in the mean corpuscular hemoglobin (MCH) leads to an increase in erythrocyte membrane stability, probably because higher values of MCH are associated with smaller quantities of red blood cells and a larger contact area between the cell membrane and ethanol present in the medium.

[The profile of women with HIV/AIDS and their adherence to the antiretroviral therapy]. / O perfil da mulher portadora de HIV/AIDS e sua adesão à terapêutica antirretroviral.

The objectives of this study were to characterize the sociodemographic and clinical profiles, health behaviors, beliefs and attitudes towards the disease and treatment of women with HIV/AIDS, outpatients of a university hospital located in the interior of São Paulo state, and to identify the factors that affect their adherence to antiretroviral therapy. The participants were 60 female outpatients of the referred service. The data were collected through semi-structured interviews. The women's mean age was 39.8 (standard deviation of 9.1) years; most of the women had a low education level, lived in deprived socioeconomic conditions, and were in a stable relationship. The most frequent form of infection was through a heterosexual relationship; 55% of the women had abandoned treatment, and their main reasons were the imposed therapeutic schemes, the side effects of antiretroviral drugs, coping with the disease, and the perspective of imminent death; 35% did not meet the adherence criteria, considered as taking 95% of the prescribed antiretroviral therapy.

XAF1 as a modifier of p53 function and cancer susceptibility.

Cancer risk is highly variable in carriers of the common TP53-R337H founder allele, possibly due to the influence of modifier genes. Whole-genome sequencing identified a variant in the tumor suppressor XAF1 (E134*/Glu134Ter/rs146752602) in a subset of R337H carriers. Haplotype-defining variants were verified in 203 patients with cancer, 582 relatives, and 42,438 newborns. The compound mutant haplotype was enriched in patients with cancer, conferring risk for sarcoma (P = 0.003) and subsequent malignancies (P = 0.006). Functional analyses demonstrated that wild-type XAF1 enhances transactivation of wild-type and hypomorphic TP53 variants, whereas XAF1-E134* is markedly attenuated in this activity. We propose that cosegregation of XAF1-E134* and TP53-R337H mutations leads to a more aggressive cancer phenotype than TP53-R337H alone, with implications for genetic counseling and clinical management of hypomorphic TP53 mutant carriers.

Mutations in context: implications of BRCA testing in diverse populations.

Cancer is a common non-communicable disease worldwide, although it exhibits differential population trends in incidence and mortality rates. The differences relate to population structure, environmental risk factors as well as health system organization. This article discusses the potential impact of genetic testing on population health, focusing in particular on the mutational spectrum of breast cancer susceptibility genes in diverse populations. We identify the need for improved access to, and increased investment in, comprehensive cancer risk assessment and genetic testing as well as cancer control measures that take into account lifestyle, environmental, and social factors in understudied minority groups.

Inherited Breast Cancer in Nigerian Women.

PURPOSE: Among Nigerian women, breast cancer is diagnosed at later stages, is more frequently triple-negative disease, and is far more frequently fatal than in Europe or the United States. We evaluated the contribution of an inherited predisposition to breast cancer in this population. PATIENTS AND METHODS: Cases were 1,136 women with invasive breast cancer (mean age at diagnosis, 47.5 ± 11.5 years) ascertained in Ibadan, Nigeria. Patients were selected regardless of age at diagnosis, family history, or prior genetic testing. Controls were 997 women without cancer (mean age at interview, 47.0 ± 12.4 years) from the same communities. BROCA panel sequencing was used to identify loss-of-function mutations in known and candidate breast cancer genes. RESULTS: Of 577 patients with information on tumor stage, 86.1% (497) were diagnosed at stage III (241) or IV (256). Of 290 patients with information on tumor hormone receptor status and human epidermal growth factor receptor 2, 45.9% (133) had triple-negative breast cancer. Among all cases, 14.7% (167 of 1,136) carried a loss-of-function mutation in a breast cancer gene: 7.0% in BRCA1, 4.1% in BRCA2, 1.0% in PALB2, 0.4% in TP53, and 2.1% in any of 10 other genes. Odds ratios were 23.4 (95% CI, 7.4 to 73.9) for BRCA1 and 10.3 (95% CI, 3.7 to 28.5) for BRCA2. Risks were also significantly associated with PALB2 (11 cases, zero controls; P = .002) and TP53 (five cases, zero controls; P = .036). Compared with other patients, BRCA1 mutation carriers were younger ( P < .001) and more likely to have triple-negative breast cancer ( P = .028). CONCLUSION: Among Nigerian women, one in eight cases of invasive breast cancer is a result of inherited mutations in BRCA1, BRCA2, PALB2, or TP53, and breast cancer risks associated with these genes are extremely high. Given limited resources, prevention and early detection services should be especially focused on these highest-risk women.

As mudanças funcionais no processo de protetização para amputação de punho com prótese personalizada em impressora 3D / Functional changes in the prosthesis process for hand amputation by 3D personalized prosthesis printer

Avaliar as mudanças funcionais do membro superior em paciente amputado de punho utilizando prótese personalizada em impressora 3D. Trata-se de um estudo de caso referente ao atendimento fisioterapêutico de um paciente com amputação de punho do tipo infecciosa e avaliação da função de apertar, segurar, pinça e movimento grosseiro do membro superior afetado antes e após um tratamento protético de dez sessões. Após o treinamento protético foi feita a reavaliação, sendo possível observar que a funcionalidade do membro superior do participante melhorou com o uso da prótese nos seguintes testes: apertar (2 pontos); segurar (1,5 ponto); e movimento grosseiro (3 pontos). No entanto, pelo fato de a prótese fazer apenas o movimento de preensão grossa, não foi possível ganhar funcionalidade no teste de pinça (0 ponto). As mudanças funcionais avaliadas demonstraram melhora significativa na funcionalidade, referente aos movimentos de apertar, segurar e movimento grosseiro.

Functional changes of a higher body member in patients with hand amputation are evaluated, coupled to the use of personalized prosthesis by 3D printer. The case study refers to physiotherapeutic care of a patient with hand amputation due to infection and the evaluation of the holding, tightening, clamp and coarse movement of the higher member prior to and after a 10-session prosthetic treatment. Revaluation after prosthetic training revealed that the functionality of the participant ́s upper member improved with the use of the prosthesis when assessed by the following tests: holding (2 points), tightening (1.5 points); gross movement (3 points). However, since prosthesis only undertook coarse holding, there was no improvement in the tweeze test (0 points). Functional changes showed significant improvement in functionality with regard to movements of holding, tightening and coarse movement.

Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.

Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of the Northeast population from Brazil has never been analyzed, this study aimed to verify the frequency of mutations of clinical significance in these genes in high-risk hereditary breast and ovarian cancer (HBOC) syndrome patients from that region. DNA samples from 106 high-risk unrelated patients mostly from Bahia, the biggest state in the Northeast region, were analyzed. These patients underwent full BRCA1 gene sequencing, screening for common founder mutations in the BRCA2, CHEK2 and TP53 genes and genetic ancestry analysis with nine ancestry informative markers. The positive results were confirmed by two sequencing reactions. Three mutations of clinical significance were found: BRCA1 p.R71G (4.71%), 3450del4 (3.77%) and TP53 p.R337H (0.94%). The genetic ancestry analysis showed a high European ancestry contribution (62.2%) as well as considerable African (31.2%) and Amerindian (6.6%) ancestry contributions (r (2)=0.991); this degree of heterogeneity was also significant in the population structure analysis (r=0.604). This population is highly admixed with a different spectrum of genetic susceptibility, with the Galician founder mutation BRCA1 p.R71G accounting for 50% of all identified mutations in high-risk HBOC patients. TP53 p.R337H was also significantly frequent; thus, the combined screening of BRCA1/2 and TP53 should be offered to high-risk HBOC patients from Northeast Brazil.

Vaccination legislation in Latin America and the Caribbean.

Governments have the authority and responsibility to ensure vaccination for all citizens. The development of vaccination legislation in Latin America and the Caribbean (LAC) parallels the emergence of sustainable, relatively autonomous, and effective national immunization programs. We reviewed vaccination legislation and related legal documents from LAC countries (excluding Canada, Puerto Rico, the United States, and the US Virgin Islands), and described and assessed vaccination legislation provisions. Twenty-seven of the 44 countries and territories in the Region have proposed or enacted vaccination legislation. Provisions vary substantially, but legal frameworks generally protect the sustainability of the immunization program, the individual's right to immunization, and the state's responsibility to provide it as a public good. Of the legislation from countries and territories included in the analysis, 44 per cent protects a budget line for vaccines, 96 per cent mandates immunization, 63 per cent declares immunization a public good, and 78 per cent explicitly defines the national vaccine schedule. We looked for associations between vaccination legislation in LAC and national immunization program performance and financing, and conclude with lessons for governments seeking to craft or enhance vaccination legislation.

Estudo descritivo de cirurgia de pterígio primário com adesivo de fibrina / A descriptive study of primary pterygium surgery with fibrin glue

Objetivo: Avaliar a técnica cirúrgica de exérese de pterígio primário com adesivo de fibrina, quanto à sintomatologia e dados epidemiológicos. Métodos: Ensaio clínico prospectivo, não-controlado e aleatório com 30 pacientes do Hospital Universitário Lauro Wanderley, concordantes com o termo de consentimento livre e esclarecido, aprovado pelo Comitê de Ética em Pesquisa. As cirurgias foram avaliadas nos 1º, 7º e 21º pós-operatório (PO). Resultados: Dos 30 pacientes operados, 16 (53,3%) eram do sexo feminino, com idade variando de 21 a 67 anos (42,2). Quanto à graduação do pterígio (1 a 3): grau 1-10 (33,3%), grau 2-10 (33,3%) e grau 3-10 (33,3%), sendo 16 (53,3%) no olho direito e 14 (46,7%) no olho esquerdo. 56,7% dos pacientes afirmaram intensa exposição solar durante a vida e possuíam casos semelhantes na família. No transoperatório, houve queixas de dor (43,3%) e sensação de corpo estranho (46,7%). O tempo cirúrgico variou de 11 a 32 minutos (17,7). As queixas no 1º, 7º e 21º PO, respectivamente, foram: dor (60%, 26,6% e 6,66%), hiperemia (93,3%, 66,6% e 36,6%), sensação de corpo estranho (53,3%, 46,6% e 20%), epífora (83,3%, 43,3% e 6,66%), secreção (33,3%, 36,6% e 6,66%), ardência (53,3%, 36,6% e 16,6%) e olho seco (6,66%, 26,6% e 23,3%). 43,3% afirmaram estar muito satisfeitos com a cirurgia e 63,8% consideraram o aspecto estético excelente. Três pacientes (10%) não compareceram ao 7 DPO e 5 (16,6%) ao 21 DPO. Não houve perda do enxerto nos casos estudados. Conclusão: O transplante autólogo de conjuntiva é atualmente a alternativa mais eficaz para o tratamento do pterígio. Associado ao uso do adesivo de fibrina, que é composto de fibrinogênio e trombina e tem a vantagem de ser totalmente absorvível, apresenta vantagens, dentre elas a redução do tempo cirúrgico. Neste estudo, corroborando com estudos recentes, o tempo cirúrgico médio foi 19,05 (±6,1) minutos e houve alta incidência de familiares portadores de pterígio e exposição aos raios ultravioleta...

Objective: To evaluate the surgical technique for excision of primary pterygium with fibrin glue, as the symptoms and epidemiological data. Methods: Clinical prospective non-controlled and randomized study with 30 patients of the Hospital Universitário Lauro Wanderley, consistent with the term informed consent, approved by the Ethics in Research. The surgeries were evaluated at 1, 7 and 21 postoperatively (PO). Results: Of the 30 operated patients, 16 (53,3%) were female, aged 21-67 years (42.2). As for the degrees of pterygium (1-3): grau 1-10 (33,3%), grade 2-16 (33,3%) and grade 3-10 (33,3%), 16 (53,3%) in the right eye and 16 (44.4%) in the left eye. 56,7% of patients had intense sun exposure during their lifetime and cases in the family. In the trans-operative period, there were complaints of pain (43,3%) and foreign body sensation (46,7%). Surgical time ranged from 11 to 32 minutes (17.7). The complaints in the first, seventh and 21 PO, respectively, were pain (60%, 26,6% e 6,66%), redness (93,3%, 66,6% e 36,6%), foreign body sensation (53,3%, 46,6% e 20%), epiphora (83,3%, 43,3% e 6,66%), discharge (33,3%, 36,6% e 6,66%),burning (53,3%, 36,6% e 16,6%) and dry eye (6,66%, 26,6% e 23,3%). 43,3% reported being very satisfied with the surgery and 63.8% considered excellent aesthetic appearance. 3 (10%) patients did not attend the 7 DPO and 5(16,6%),at 21 DPO. There was no graft loss in the cases studied. Conclusion: Autologous conjunctiva is currently the most effective alternative for the treatment of pterygium. Associated with the use of fibrin adhesive, which is composed of fibrinogen and thrombin and has the advantage of being totally absorbable, has advantages, among them a reduction in surgical time. In this study, corroborating recent studies, the mean operative time was 19.05 (± 6.1) minutes and there was a high incidence of family pterygium patients and UV exposure...

O perfil da mulher portadora de HIV/AIDS e sua adesão à terapêutica antirretroviral / The profile of women with HIV/AIDS and their adherence to the antiretroviral therapy / Perfil de la mujer portadora de HIV/SIDA y su adhesión a la terapéutica antirretroviral

Esse trabalho teve como objetivos caracterizar o perfil sociodemográfico e clínico, os comportamentos em saúde, crenças e atitudes sobre a doença e o tratamento de mulheres com HIV/AIDS atendidas no serviço ambulatorial de um hospital universitário do interior de São Paulo, bem como identificar fatores que interferem na adesão à terapêutica antirretroviral. Os sujeitos do estudo foram 60 mulheres acompanhadas no serviço. Os dados foram colhidos por meio de entrevista semiestruturada. As mulheres tinham idade média de 39,8 (desvio padrão 9,1) anos, baixa escolaridade, condições socioeconômicas insatisfatórias e mantinham relacionamento estável. A relação heterossexual foi a forma mais frequente de infecção; 55% das mulheres já abandonaram o tratamento e alegavam como principais motivos os esquemas terapêuticos impostos, os efeitos colaterais dos antirretrovirais, o enfrentamento psicológico da doença e o pesar iminente da morte; 35% delas não atingiram critérios de adesão considerando-se o uso de 95% da terapêutica antirretroviral prescrita.

The objectives of this study were to characterize the sociodemographic and clinical profiles, health behaviors, beliefs and attitudes towards the disease and treatment of women with HIV/AIDS, outpatients of a university hospital located in the interior of São Paulo state, and to identify the factors that affect their adherence to antiretroviral therapy. The participants were 60 female outpatients of the referred service. The data were collected through semi-structured interviews. The women's mean age was 39.8 (standard deviation of 9.1) years; most of the women had a low education level, lived in deprived socioeconomic conditions, and were in a stable relationship. The most frequent form of infection was through a heterosexual relationship; 55% of the women had abandoned treatment, and their main reasons were the imposed therapeutic schemes, the side effects of antiretroviral drugs, coping with the disease, and the perspective of imminent death; 35% did not meet the adherence criteria, considered as taking 95% of the prescribed antiretroviral therapy.

Trabajo que objetivó caracterizar el perfil sociodemográfico y clínico, el comportamiento en salud, creencias y actitudes sobre la enfermedad y el tratamiento de mujeres con HIV/SIDA atendidas en servicio ambulatorio de hospital universitario del interior de São Paulo, así como identificar factores que interfieren en la adhesión a la terapéutica antirretroviral. Los sujetos del estudio fueron 60 mujeres atendidas en el servicio. Datos recolectados mediante entrevista semiestructurada. Las mujeres tenían un promedio etario de 39,8 (desvío estándar 9,1), baja escolaridad, condiciones socioeconómicas insatisfactorias, y mantenían relación estable. La relación heterosexual fue la forma más frecuente de infección; 55% de las mujeres ya abandonaron el tratamiento, alegando como motivos principales los esquemas terapéuticos impuestos, los efectos colaterales de los antirretrovirales, el enfrentamiento psicológico de la enfermedad y el dolor inminente de la muerte; 35% de ellas no alcanzaron criterios de adhesión, considerándose el uso del 95% de la terapéutica antirretroviral prescripta.

Ancestry informative markers and complete blood count parameters in Brazilian blood donors / Marcadores informativos de ancestralidade e parâmetros no hemograma de doadores de sangue brasileiros

A complete blood count is very useful in clinical diagnoses when reference ranges are well established for the population. Complete blood counts and allele frequencies of Ancestry Informative Markers (AIMs) were analyzed in Brazilians with the aim of characterizing the hematological values of an admixed population. Positive associations were observed between gender and neutrophils, monocytes, eosinophils, erythrocytes, hemoglobin, hematocrit, MCV, MCHC and platelet counts. No significant differences were found for age, alcohol consumption, educational status, ethnicity, smoking in respect to the complete blood count values. In general, men had higher red blood cell values, while women had higher values for white blood cells and platelets. The study of the population was highly heterogeneous with mean proportions (± SE) of African, European and Amerindian ancestry being 49.0 ± 3.0 percent, 44.0 ± 9.0 percent and 7.0 ± 9.0 percent, respectively. Amerindian ancestry showed limited contribution to the makeup of the population, but estimated ancestral proportions were statistically significant (r = 0.9838; P<0.001). These hematologic values are similar to Afro-Americans, another admixed population.

O hemograma é muito útil no diagnóstico quando o intervalo de referência é adequadamente estabelecido para população. Com o objetivo de verificar os valores hematológicos em população heterogênea foi analisado o hemograma e frequências alélica de marcadores informativos de ancestralidade de brasileiros. Foi observada associação positiva entre sexo e os valores de neutrófilos, monócitos, eosinófilos, eritrócitos, hemoglobina, hematócrito, MCV, MCHC e plaquetas (IC 95 por cento; P<0,05). E não houve diferenças entre idade, consumo de álcool, nível educacional, etnia, tabagismo e os valores do hemograma (IC 95 por cento; P>0,05). Os homens apresentaram valores maiores no eritrograma, enquanto no leucograma e plaquetograma foram as mulheres. Foi observado também que a população é altamente heterogênea e as médias proporcionais (±DP) de ancestralidade Africana, Europeia e Ameríndia estimada foram: 49,0 ± 3,0 por cento, 44,0 ± 9,0 por cento e 7,0 ± 9,0 por cento, respectivamente. A contribuição ancestral ameríndia se demonstrou pequena, mas a estimativa de proporções ancestrais foi estatisticamente significante (r = 0,9838; P<0,001). Os valores hematológicos aqui descritos são parecidos com os descritos em negros americanos, outra população heterogênea.

Estudo de mutações pontuais de BRCA1, BRCA2, CHEK2 e TP53 em pacientes com alto risco para câncer de mama e ovário hereditário / Study of point mutations of BRCA1, BRCA2, CHEK2, and TP53 in patients at high risk for hereditary breast and ovarian cancer

INTRODUÇÃO: BRCA1, BRCA2, CHEK2 e TP53 são os principais genes supressores tumorais associados às síndromes de câncer de mama e ovário hereditário (HBOC) e Li-Fraumeni (LFS/LFL). Em cânceres hereditários, a frequência de mutações em genes de baixa penetrância, como CHEK2, está entre 1-10%, entretanto nos genes de alta penetrância, como BRCA1/2 e TP53, a frequência é <1%. Até o momento, estudos feitos no Brasil apenas descreveram apenas o perfil de susceptibilidade genética de populações das regiões sul/sudeste. OBJETIVO: Analisar a ancestralidade e oito mutações dos genes BRCA1, BRCA2, CHEK2 e TP53 em 102 pacientes com alto risco para HBOC do Nordeste do Brasil...

INTRODUCTION: BRCA1, BRCA2, CHEK2 and TP53 are the mainly tumor suppressor genes associated with Hereditary Breast and Ovarian Cancer (HBOC) and Li-Fraumeni (LFS/LFL) syndromes. In hereditary cancers the frequency of mutations in susceptibility genes of low penetrance like CHEK2 is 1-10%, while in genes of high penetrance as BRCA1/2 and TP53 is <1%. Until now, the studies done in Brazil only described the susceptibility profile of populations from the south/southeast regions. OBJECTIVE: To analyze the ancestry and eight mutations of BRCA1, BRCA2, CHEK2 and TP53 genes in 102 patients at high-risk for HBOC from the Northeast of Brazil...