Histological and Immunohistochemical Characteristics for Hereditary Breast Cancer Risk in a Cohort of Brazilian Women

Abstract

Objective The study aimed to characterize the clinical, histological, and immunohistochemical profile of women with invasive breast cancer, according to the risk for Hereditary Predisposition Breast and Ovarian Cancer Syndrome in a Brazilian population. Methods This is a retrospective study performed from a hospital-based cohort of 522 women, diagnosed with breast cancer treated at an oncology referral center in the Southeast region of Brazil, between 2014 and 2016. Results Among the 430 women diagnosed with invasive breast cancer who composed the study population, 127 (29.5%) were classified as at increased risk for hereditary predisposition to breast and ovarian cancer syndrome. There was a lower level of education in patients at increased risk (34.6%) when compared with those at usual risk (46.0%). Regarding tumor characteristics, women at increased risk had higher percentages of the disease diagnosed at an advanced stage (32.3%), and with tumors > 2cm (63.0%), with increased prevalence for both characteristics, when compared with those at usual risk. Furthermore, we found higher percentages of HG3 (43.3%) and Ki-67 ≥ 25% (64.6%) in women at increased risk, with prevalence being about twice as high in this group. The presence of triple-negative tumors was observed as 25.2% in women at increased risk and 6.0% in women at usual risk, with the prevalence of absence of biomarkers being 2.5 times higher among women in the increased risk group. Conclusion From the clinical criteria routinely used in the diagnosis of breast cancer, the care practice of genetic counseling for patients at increased risk of hereditary breast cancer in contexts such as Brazil is still scarce.

Intercontinental Comparison of Immunohistochemical Subtypes Among Individuals With Breast Cancer in South-East Asia and South America: A Scoping Systematic Review and Meta-Analysis of Observational Studies

“…Vietnam follows in the second place with 20.9% rate from 738 individuals, though no significant difference was observed compared to the other SEA countries [41,42]. Argentina in other hand, was estimated to have a 10.1% rate from 2,035 individuals across two studies, yet this study also demonstrated significant TNBC rate compared to the other SA countries (does not closely followed by Brazil on the second place with 15.8% rate) [43,44,[46][47][48][49][50][51]74]. This observation produces valuable insights on how both Argentina and Laos (or Vietnam) emerged from the pool.…”

Análise geral do diagnóstico, tratamento e prognóstico do câncer de mama no Brasil: Uma revisão sistemática

“…Outro fator de risco de suma importância é a hereditariedade (genética), sendo que cerca de 10% do CA de mama atingem mulheres que possuem mutações hereditárias nos genes supressores dos tumores, sendo os mais conhecidos: BRCA1, BRCA2, TP53 e CHEK2. Os produtos alterados por estes genes desempenham um papel no reparo de danos do DNA (Freitas et al, 2022;Buranello et al, 2021). Dados atuais demonstram que no ano de 2023, foram estimados 73.610 novos casos diagnosticados, representando uma taxa de incidência de 41,89 casos para cada 100.000 mulheres.…”

“…O CA de mama possui origem nas células epiteliais e pode ser dividido em dois grandes grupos: carcinoma invasivo e o carcinoma in situ. O tipo invasivo é caracterizado como aquele em que as células tumorais já ultrapassaram a barreira de células da camada basal e invadiram o tecido circunvizinho aos ductos ou lóbulos mamários, podendo migrar para outros órgãos através da corrente linfática e/ou metástase (Freitas et al, 2022). Já o tipo in situ, possui proliferação celular neoplásica em ductos mamárias (DCIS) ou dentro dos lóbulos (LCIS), vale ressaltar que de acordo a literatura, aproximadamente 80% dos CA de mama diagnosticados são do tipo in situ (Reis et al, 2020;Buranello et al, 2021).…”

“…Sendo os principais associados com CA de mama: CA 15.3, carcinoembrionário (CEA) e M2PK (Pestana et al, 2022;Tomazelli et al, 2023;Khan et al, 2022). O CEA é uma glicoproteína que possui associação com adesão celular, podendo ser encontrada em níveis acima de 5,5 ng/mL, quanto maior o valor encontrado no momento do diagnóstico, significa probabilidade de doença avançada (Pestana et al, 2022;Freitas et al, 2022;Gallucci et al, 2021).…”