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Vergara D.,University of Salento | Tinelli A.,Imaging | Martignago R.,University of Salento | Malvasi A.,Santa Maria Hospital | And 2 more authors.
Current Cancer Drug Targets | Year: 2010

Tumors of the epithelial surface account for about 80% of all ovarian neoplasms and exhibit a heterogeneous histological classification affecting survival. Tumors of low malignant potential, defined as borderline ovarian tumors (BOTs), have a markedly better survival and low recurrence, even if surgery still represents the common management for this type of cancer. It is still debated in the literature if BOTs can be considered as intermediate precursors in the progression to high grade ovarian tumors. Evidences now propose that high-grade serous carcinomas are not associated with a defined precursor lesion. Together with histopathological studies, mutations of KRAS, BRAF and p53 genes, microsatellite instability (MSI) and under- or over-expression of many genes and proteins have been used to address this question. Despite the large body of data summarized, a limited number of molecules proved to be useful in elucidating BOTs pathogenesis and only a few of these showed possible application in the therapy. We believe that high-throughput technologies would help to overcome these limitations offering the promise of a better understanding of BOTs classification. The aim is to guide the diagnosis and prognosis of BOTs to develop new possible therapeutic molecular targets avoiding surgery. © 2010 Bentham Science Publishers Ltd. Source


Tinelli A.,Vito Fazzi Hospital | Malvasi A.,Santa Maria Hospital | Leo G.,Molecular Biology and Experimental Oncology Laboratory | Vergara D.,University of Salento | And 4 more authors.
Cancer and Metastasis Reviews | Year: 2010

In the past few years, ovarian cancer research has focused increasingly on disease prevention; but an increasing number of women refer to gynecology and clinical genetics clinics with a family history of ovarian cancer and inherited familial mutations. The interest on the issue has increased also due to the identification of BReast CAncer1 (BRCA1) and BRCA2 genes mutations. The importance of recognizing the characteristics of hereditary ovarian cancer (HOC) and manage women at risk appropriately will provide more accurate care of the high-risk population. Women at risk can be identified by pedigree analysis and may receive counseling from interdisciplinary cancer genetics clinics, while those at high risk need to receive genetic testing. Risk calculation programs define risks and assist in decision-making in clinical options and genetic testing; they provide information on the risks of the disease, mutation status, and the use of genetic testing in the management of high-risk families. Furthermore, while a large number of surrogate preliminary markers have been identified, there are still limited studies on ovarian cancer genomics. Different options for risk management of HOC are available: surveillance, chemoprevention and prophylactic surgery. Surveillance in HOC high-risk patients is still not accurate. Chemoprevention is currently a controversial topic, because a number of major issues still need to be addressed in developing and testing agents for ovarian cancer chemoprevention. Prophylactic surgery has been shown to effectively decrease cancer risk, and it has the possibility to substantially reduce ovarian cancer mortality. © Springer Science+Business Media, LLC 2010. Source


Pisano M.,Molecular Biology and Experimental Oncology Laboratory | Mezzolla V.,Molecular Biology and Experimental Oncology Laboratory | Galante M.M.,Molecular Biology and Experimental Oncology Laboratory | Alemanno G.,Vito Fazzi Hospital | And 4 more authors.
Familial Cancer | Year: 2010

Heterozygous germ line mutations in the Breast CAncer1 (BRCA1) and BRCA2 genes can lead to a high risk of breast and ovarian cancer, in addition to a significantly increased susceptibility of pancreatic, prostate and male breast cancer. The BRCA2 belongs to the tumor suppressor gene family and the protein encoded by this gene is involved in the repair of chromosomal damage, with an important role in the error-free repair of DNA double strand breaks. After complete sequencing of coding regions and splice junctions of both genes, in a family with breast cancer history, a non previously reported heterozygous mutation in BRCA2 was detected and studied in an Italian healthy female. The direct sequencing disclosed, on exon 15, an insertion (7525_7526 insT). The frame shift mutation of BRCA2 causes a disruption of the translational reading frame, resulting in a stop codon 29 amino acids downstream, in the 2538 position of the BRCA2 protein. The mutated allele codifies a truncated protein, lacking the two putative nuclear localization signals (NLSs) that reside within the extreme C-terminal domain of BRCA2. Since this mutant protein not performs a translocation into the nucleus, it is fully non-functional. © 2010 Springer Science+Business Media B.V. Source


Pisano M.,Molecular Biology and Experimental Oncology Laboratory | Mezzolla V.,Molecular Biology and Experimental Oncology Laboratory | Galante M.M.,Molecular Biology and Experimental Oncology Laboratory | Alemanno G.,Vito Fazzi Hospital | And 3 more authors.
Familial Cancer | Year: 2011

Heterozygous germ line mutations in the Breast CAncer1 (BRCA1) and BRCA2 genes can lead to a high risk of breast and ovarian cancer, in addition to a significantly increased susceptibility of pancreatic, prostate and male breast cancer. The BRCA2 belongs to the tumor suppressor gene family and the protein encoded by this gene is involved in the repair of chromosomal damage, with an important role in the error-free repair of DNA double strand breaks. After complete sequencing of coding regions and splice junctions of both genes, in a family with breast cancer history, a non previously reported heterozygous mutation in BRCA2 was detected and studied in an Italian healthy female. The direct sequencing disclosed, on exon 15, an insertion (7525-7526insT). The frame shift mutation of BRCA2 causes a disruption of the translational reading frame, resulting in a stop codon 29 amino acids downstream, in the 2538 position of the BRCA2 protein. The mutated allele codifies a truncated protein, lacking the two putative nuclear localization signals (NLSs) that reside within the extreme C-terminal domain of BRCA2. Since this mutant protein not performs a translocation into the nucleus, it is fully non-functional. © 2010 Springer Science+Business Media B.V. Source

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