According to the Europe Institute of Oncology, ovarian cancer is the fifth most common cancer in the female population and the leading cause of cancer-associated female mortality worldwide. Many risk factors play a role in its development, such as aging, oestrogen exposure and ethnicity, but none is as significant as mutations in BRCA1 and BRCA2 genes, which increase the risk of developing ovarian cancer by 50-85%. Treatment of this tumour usually involves a combination of surgery and chemotherapy. Normally, the operation of choice is total hysterectomy, which may also involve omentectomy and peritoneal stripping, depending on the spread of the cancer and the decision of the surgeon. First-line chemotherapy usually consists of a platinum derivative together with a taxane, but bevacizumab may also be used, and PARP inhibitors have recently been shown to be very effective. Given that the presence of a BRCA mutation is such an important risk factor, a genetic test is generally offered to family members of ovarian cancer patients. This consists of a blood test in which DNA analysis to identify BRCA mutations is performed. The results of the test are helpful in terms of recognizing patients who are at risk of developing ovarian cancer, and establishing continuous care and follow-up, which may involve taking specific preventive measures to avoid the onset of the disease. One of the most common and important means of prevention is prophylactic oophorectomy, which greatly reduces the risk of developing breast and ovarian cancer in high-risk patients. However, this operation also produces a premature iatrogenic menopause, resulting in physiological alterations and requiring psychological adjustments. As the management of both of these consequences involves the initiation of hormone replacement therapy, it is important to ensure that the operation is clearly indicated before proceeding to surgery. In this regard, the age at which a patient is likely to develop ovarian cancer would clearly be very useful information when deciding the best therapeutic approach to adopt. An important question is therefore whether it is possible to predict the age of onset of the disease in an individual patient on the basis of the BRCA mutation she carries.
According to the Europe Institute of Oncology, ovarian cancer is the fifth most common cancer in the female population and the leading cause of cancer-associated female mortality worldwide. Many risk factors play a role in its development, such as aging, oestrogen exposure and ethnicity, but none is as significant as mutations in BRCA1 and BRCA2 genes, which increase the risk of developing ovarian cancer by 50-85%. Treatment of this tumour usually involves a combination of surgery and chemotherapy. Normally, the operation of choice is total hysterectomy, which may also involve omentectomy and peritoneal stripping, depending on the spread of the cancer and the decision of the surgeon. First-line chemotherapy usually consists of a platinum derivative together with a taxane, but bevacizumab may also be used, and PARP inhibitors have recently been shown to be very effective. Given that the presence of a BRCA mutation is such an important risk factor, a genetic test is generally offered to family members of ovarian cancer patients. This consists of a blood test in which DNA analysis to identify BRCA mutations is performed. The results of the test are helpful in terms of recognizing patients who are at risk of developing ovarian cancer, and establishing continuous care and follow-up, which may involve taking specific preventive measures to avoid the onset of the disease. One of the most common and important means of prevention is prophylactic oophorectomy, which greatly reduces the risk of developing breast and ovarian cancer in high-risk patients. However, this operation also produces a premature iatrogenic menopause, resulting in physiological alterations and requiring psychological adjustments. As the management of both of these consequences involves the initiation of hormone replacement therapy, it is important to ensure that the operation is clearly indicated before proceeding to surgery. In this regard, the age at which a patient is likely to develop ovarian cancer would clearly be very useful information when deciding the best therapeutic approach to adopt. An important question is therefore whether it is possible to predict the age of onset of the disease in an individual patient on the basis of the BRCA mutation she carries.
BRCA mutation domains in ovarian cancer patients: implications on prevention and treatment
LA CAVA, GIULIA
2020/2021
Abstract
According to the Europe Institute of Oncology, ovarian cancer is the fifth most common cancer in the female population and the leading cause of cancer-associated female mortality worldwide. Many risk factors play a role in its development, such as aging, oestrogen exposure and ethnicity, but none is as significant as mutations in BRCA1 and BRCA2 genes, which increase the risk of developing ovarian cancer by 50-85%. Treatment of this tumour usually involves a combination of surgery and chemotherapy. Normally, the operation of choice is total hysterectomy, which may also involve omentectomy and peritoneal stripping, depending on the spread of the cancer and the decision of the surgeon. First-line chemotherapy usually consists of a platinum derivative together with a taxane, but bevacizumab may also be used, and PARP inhibitors have recently been shown to be very effective. Given that the presence of a BRCA mutation is such an important risk factor, a genetic test is generally offered to family members of ovarian cancer patients. This consists of a blood test in which DNA analysis to identify BRCA mutations is performed. The results of the test are helpful in terms of recognizing patients who are at risk of developing ovarian cancer, and establishing continuous care and follow-up, which may involve taking specific preventive measures to avoid the onset of the disease. One of the most common and important means of prevention is prophylactic oophorectomy, which greatly reduces the risk of developing breast and ovarian cancer in high-risk patients. However, this operation also produces a premature iatrogenic menopause, resulting in physiological alterations and requiring psychological adjustments. As the management of both of these consequences involves the initiation of hormone replacement therapy, it is important to ensure that the operation is clearly indicated before proceeding to surgery. In this regard, the age at which a patient is likely to develop ovarian cancer would clearly be very useful information when deciding the best therapeutic approach to adopt. An important question is therefore whether it is possible to predict the age of onset of the disease in an individual patient on the basis of the BRCA mutation she carries.È consentito all'utente scaricare e condividere i documenti disponibili a testo pieno in UNITESI UNIPV nel rispetto della licenza Creative Commons del tipo CC BY NC ND.
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https://hdl.handle.net/20.500.14239/12418