Giovanni Ponti, Carmine De Angelis, Rosamaria Ponti, Linda Pongetti, Lorena Losi, Alberto Sticchi, Aldo Tomasi, Tomris Ozben
{"title":"遗传性乳腺癌和卵巢癌:从基因到分子靶向治疗。","authors":"Giovanni Ponti, Carmine De Angelis, Rosamaria Ponti, Linda Pongetti, Lorena Losi, Alberto Sticchi, Aldo Tomasi, Tomris Ozben","doi":"10.1080/10408363.2023.2234488","DOIUrl":null,"url":null,"abstract":"<p><p>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 (<i>BRCA1</i>) and breast cancer 2 (<i>BRCA2</i>) 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 <i>BRCA1/2</i> mutations and provide crucial information for clinical and therapeutic management. The identification of a <i>BRCA</i> gene mutation has therapeutic implications for women with metastatic and non-metastatic breast cancer. In the therapeutic setting of <i>BRCA+</i> 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 <i>BRCA1/2</i> status as a diagnostic and prognostic tool and as a predictive biomarker in the personalized approach to hereditary <i>BRCA</i> + cancers.</p>","PeriodicalId":10760,"journal":{"name":"Critical reviews in clinical laboratory sciences","volume":null,"pages":null},"PeriodicalIF":6.6000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.\",\"authors\":\"Giovanni Ponti, Carmine De Angelis, Rosamaria Ponti, Linda Pongetti, Lorena Losi, Alberto Sticchi, Aldo Tomasi, Tomris Ozben\",\"doi\":\"10.1080/10408363.2023.2234488\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 (<i>BRCA1</i>) and breast cancer 2 (<i>BRCA2</i>) 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 <i>BRCA1/2</i> mutations and provide crucial information for clinical and therapeutic management. The identification of a <i>BRCA</i> gene mutation has therapeutic implications for women with metastatic and non-metastatic breast cancer. In the therapeutic setting of <i>BRCA+</i> 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 <i>BRCA1/2</i> status as a diagnostic and prognostic tool and as a predictive biomarker in the personalized approach to hereditary <i>BRCA</i> + cancers.</p>\",\"PeriodicalId\":10760,\"journal\":{\"name\":\"Critical reviews in clinical laboratory sciences\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":6.6000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Critical reviews in clinical laboratory sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/10408363.2023.2234488\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/7/16 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Critical reviews in clinical laboratory sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/10408363.2023.2234488","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/16 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
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.
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.