Division of Clinical Pathology, Department of Surgical, Medical, Dental and Morphological Sciences with Interest in Transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
Crit Rev Clin Lab Sci. 2023 Dec;60(8):640-650. doi: 10.1080/10408363.2023.2234488. Epub 2023 Jul 16.
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 () and breast cancer 2 () 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 mutations and provide crucial information for clinical and therapeutic management. The identification of a gene mutation has therapeutic implications for women with metastatic and non-metastatic breast cancer. In the therapeutic setting of 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 status as a diagnostic and prognostic tool and as a predictive biomarker in the personalized approach to hereditary + cancers.
遗传性家族性肿瘤占所有恶性肿瘤的 10-15%，为鉴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 () 和乳腺癌 2 () 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 的特征是在同一家族分支中存在多个乳腺癌和卵巢癌病例，以及其他肿瘤（前列腺癌、胰腺癌和胃癌），发病年龄较早（<36 岁）、双侧性和常染色体显性遗传模式。咨询、评估 HBOC 的临床诊断标准以及进行基因检测可识别 突变的受试者，并为临床和治疗管理提供重要信息。鉴定出 基因的突变对转移性和非转移性乳腺癌的女性具有治疗意义。在 乳腺癌的治疗环境中，聚（ADP-核糖）聚合酶 (PARP) 抑制剂的治疗效果显著，该抑制剂可阻止癌细胞修复其受损的 DNA 并导致细胞死亡。本文综述了 状态作为诊断和预后工具以及作为遗传性 + 癌症个体化治疗预测生物标志物的价值证据。
