妇女携带布氏硬度突变基因的管理策略特点

K. O.B., Tezikov U.V., L. I.S., M. M.O., Nikolaeva N.A.
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引用次数: 0

摘要

这项研究的目的是以一个临床病例为例,研究妇女 BRCA 基因突变情况下管理策略的特点。根据研究,降低风险的输卵管切除术通常提供给 BRCA1、BRCA2 或两者均有突变的妇女,因为它能提高总生存率并减少浆液性癌和乳腺癌的死亡人数。在这个病例中,对一名乳腺癌患者及时进行了全面检查,包括医学检查和基因检查,从而确定了 BRCA 2 基因中存在一种高致癌类型的突变。根据大规模研究,携带这种基因突变的妇女是罹患双侧乳腺癌和卵巢癌的高危人群。此外,BRCA2 基因突变携带者还受到胰腺癌、胆道癌、胃癌、输卵管癌和皮肤黑色素瘤的威胁。对这类患者进行预防性乳房切除术和双侧卵巢切除术可降低他们罹患恶性肿瘤的风险。因此,患者的综合治疗包括这些阶段的手术治疗。此外,发现这种与 BRCA 基因突变有关的乳腺癌,就有可能扩大恶性肿瘤的诊断范围,包括对患者本人及其近亲进行深入检查。对这类患者采取这种管理策略,可以通过及时的预防性检查和随访,避免重复发生与 BRCA 基因突变相关的恶性肿瘤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
FEATURES OF MANAGEMENT TACTICS IN CARRIING MUTATIONS IN THE BRCA GENES IN WOMEN
The aim of the study is to study the features of management tactics in the case of BRCA gene mutations in women using the example of a clinical case. Risk-reducing salpingo-oophrectomy is usually offered to women with mutations in BRCA1, BRCA2, or both of them, because, according to research, it improves overall survival and reduces the number of deaths from serous cancer and breast cancer. In this case, a comprehensive examination was carried out in a timely manner in a patient with breast cancer, including a medical and genetic one, which made it possible to identify the presence of a highly oncogenic type of mutation in the BRCA 2 gene. According to large–scale studies, women carrying this type of mutation represent a risk group for developing bilateral breast cancer, as well as ovarian cancer. In addition, carriers of a mutation in the BRCA2 gene are threatened by the occurrence of pancreatic and biliary tract cancers, stomach, fallopian tubes and skin melanoma. Carrying out preventive mastectomy and bilateral ovariectomy in such patients reduces their risk of malignant neoplasms. Therefore, the patient's complex therapy included these stages of surgical treatment. In addition, the detection of such a form of breast cancer associated with mutations in the BRCA genes makes it possible to expand the range of diagnostic search for malignant neoplasms, including in-depth examination of both the patient herself and her closest relatives. Such tactics of management of this group of patients allows them to avoid the occurrence of repeated cases of malignant neoplasms associated with the carriage of mutations in the BRCA genes with timely preventive examination and follow-up.
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