印度年轻女性阳性家族史与乳腺癌临床病理特征的关系--一项试点研究

Jaishree Goyal, Ajay Yadav, Hemant Malhotra
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摘要

摘要 乳腺癌是印度女性最常见的癌症,占所有癌症的 31.8%。患乳腺癌的年轻女性年龄在 40 岁以下。这些患者有较高的阳性家族史和遗传易感性。大约 5%-10%的乳腺癌病例与家族史有关。在这项研究中,我们计划找出家族史与年轻女性乳腺癌的临床、病理和遗传特征之间的关系。 我们回顾性地收集了2019年至2022年年龄小于40岁的乳腺癌患者的数据。详细记录了患者的家族史,包括亲属患病程度和人数以及癌症类型。根据病理分级、雌激素受体、孕激素受体、人表皮生长因子受体2状态和BRCA变异基因分析对肿瘤进行了特征描述。 在 125 名年轻乳腺癌女性患者中,有 24 名患者(19%)在确诊乳腺癌时,其一级或二级亲属中有癌症病史。这些阳性病例中有 4 例(16%)检测到 BRCA 基因突变。在有阳性家族史的妇女中,有 12% 发现了双侧乳腺癌。 临床医生应利用详细的家族病史对患有乳腺癌的年轻女性进行早期筛查,并对这些患者的一级和二级亲属进行教育,以发现隐藏的病例。
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Association of Positive Family History and Clinicopathological Features in Breast Cancer in Young Indian Females – A Pilot Study
ABSTRACT Breast cancer is the most common cancer in Indian females, accounting for 31.8% of all cancers. Young women with breast cancer are those under 40 years of age. These patients have higher chances of positive family history and genetic susceptibility. Approximately 5%–10% of cases of breast cancer are associated with a family history. In this study, we planned to identify a relationship between family history and the clinical, pathological, and genetic characteristics of breast cancer in young women. Retrospectively, data from patients aged < 40 years with breast cancer, were collected from 2019 to 2022. Detailed information about the family history of the patients including the degree and number of relatives affected and the types of cancer was recorded. The tumors were characterized based on the pathological grade, estrogen receptor, progesterone receptor, human epidermal growth factor receptor 2 status, and BRCA variant genetic analysis. Of 125 females with young breast cancer, 24 patients (19%) had a first- or second-degree relative with a history of cancer at the time of breast cancer diagnosis. Four (16%) of these positive cases had BRCA mutation detected. Bilateral breast cancer was detected in 12% of women with positive family history. Clinicians are urged to use detailed family histories for young women with breast cancer for early screening and education of the first- and second-degree relatives of these patients to detect the hidden cases.
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审稿时长
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