遗传性乳腺癌和卵巢癌:从基因到分子靶向治疗。

IF 6.6 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY Critical reviews in clinical laboratory sciences Pub Date : 2023-12-01 Epub Date: 2023-07-16 DOI:10.1080/10408363.2023.2234488
Giovanni Ponti, Carmine De Angelis, Rosamaria Ponti, Linda Pongetti, Lorena Losi, Alberto Sticchi, Aldo Tomasi, Tomris Ozben
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引用次数: 0

摘要

遗传性家族性肿瘤占所有恶性肿瘤的10-15%,为确定针对特定种系遗传缺陷的治疗方法提供了机会。遗传性乳腺癌和卵巢癌(HBOC)综合征与乳腺癌1 (BRCA1)和乳腺癌2 (BRCA2)基因的致病性突变有关,是针对特定种系突变的个性化治疗方法的重要研究模型。HBOC的特点是在同一家族分支中,多例乳腺癌和卵巢癌与其他肿瘤(前列腺癌、胰腺癌和胃癌)相关,发病年龄小(BRCA1/2突变),为临床和治疗管理提供了重要信息。BRCA基因突变的鉴定对女性转移性和非转移性乳腺癌具有治疗意义。在BRCA+乳腺癌的治疗环境中,聚(adp -核糖)聚合酶(PARP)抑制剂的治疗是显著的,它可以阻止癌细胞修复其受损的DNA并导致细胞死亡。这篇综述总结了证明BRCA1/2状态作为诊断和预后工具以及作为遗传性BRCA +癌症个性化方法的预测性生物标志物的价值的证据。
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Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.

Hereditary familial tumors constitute 10-15% of all malignancies and present opportunities for the identification of therapeutic approaches against specific germline genetic defects. Hereditary breast and ovarian cancer (HBOC) syndrome, which is linked to the pathogenic mutations of the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes, is an important research model for personalized therapeutic approaches for specific germline mutations. HBOC is characterized by multiple cases of breast and ovarian carcinoma in association with other tumors (prostate, pancreas and stomach carcinoma) within the same family branch, a young age of onset (<36 years), bilaterality and an autosomal dominant pattern of inheritance. Counseling, evaluation of the clinical criteria for the diagnosis of HBOC, and the performance of genetic testing allow for the identification of subjects with BRCA1/2 mutations and provide crucial information for clinical and therapeutic management. The identification of a BRCA gene mutation has therapeutic implications for women with metastatic and non-metastatic breast cancer. In the therapeutic setting of BRCA+ breast cancer, treatment with poly (ADP-ribose) polymerase (PARP) inhibitors, which keep cancer cells from repairing their damaged DNA and cause cell death, is remarkable. This review summarizes the evidence demonstrating the value of BRCA1/2 status as a diagnostic and prognostic tool and as a predictive biomarker in the personalized approach to hereditary BRCA + cancers.

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来源期刊
CiteScore
20.00
自引率
0.00%
发文量
25
审稿时长
>12 weeks
期刊介绍: Critical Reviews in Clinical Laboratory Sciences publishes comprehensive and high quality review articles in all areas of clinical laboratory science, including clinical biochemistry, hematology, microbiology, pathology, transfusion medicine, genetics, immunology and molecular diagnostics. The reviews critically evaluate the status of current issues in the selected areas, with a focus on clinical laboratory diagnostics and latest advances. The adjective “critical” implies a balanced synthesis of results and conclusions that are frequently contradictory and controversial.
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