Department of Public Health, Faculdade de Medicina, Universidade Federal de Juiz de Fora, Juiz de Fora, MG, Brazil.
Epidemiology of Congenital Malformations Laboratory, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil.
Rev Bras Ginecol Obstet. 2022 Aug;44(8):761-770. doi: 10.1055/s-0042-1743103. Epub 2022 Apr 25.
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.
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.
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 K-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.
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.
本研究旨在根据巴西人群中遗传性乳腺癌和卵巢癌综合征风险，描述浸润性乳腺癌患者的临床、组织学和免疫组织化学特征。
这是一项回顾性研究，来自巴西东南部一家肿瘤转诊中心于 2014 年至 2016 年期间收治的 522 名浸润性乳腺癌女性患者的医院队列。
在组成研究人群的 430 名诊断为浸润性乳腺癌的女性中，有 127 名（29.5%）被归类为遗传性乳腺癌和卵巢癌综合征高危人群。与低危人群（46.0%）相比，高危人群的受教育程度较低（34.6%）。在肿瘤特征方面，高危人群中疾病诊断为晚期的比例（32.3%）和肿瘤>2cm 的比例（63.0%）较高，与低危人群相比，这两种特征的患病率均较高。此外，我们发现高危人群中 HG3（43.3%）和 K-67≥25%（64.6%）的比例较高，在高危人群中，这两种比例的患病率大约是低危人群的两倍。高危人群中三阴性肿瘤的患病率为 25.2%，而低危人群中为 6.0%，高危人群中无生物标志物的患病率是低危人群的 2.5 倍。
从常规用于乳腺癌诊断的临床标准来看，在巴西等背景下，对遗传性乳腺癌高危患者进行遗传咨询的护理实践仍然很少。
