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Patrono M.G.,Clara Campal Comprehensive Cancer Center | Minig L.,Clara Campal Comprehensive Cancer Center | Diaz-Padilla I.,Comprehensive Oncology Center Clara Campal | Romero N.,Comprehensive Oncology Center Clara Campal | And 2 more authors.
ecancermedicalscience | Year: 2013

Borderline ovarian tumours generally affect women of reproductive age. The positive prognosis is related to the fact that over 80% of cases are diagnosed at an early stage of the disease. Although radical surgery is the standard of care for this disease, fertility-sparing surgery can be performed in selected cases. Since it was first described in 1929, the knowledge of the molecular and histologic characteristics has been significantly improved. In this review, advances in the clinical behaviour, pathologic characteristics, prognostics factors, and different strategies of treatment are discussed. © the authors; licensee ecancermedicalscience. Source


Calvete O.,Human Genetics Group | Calvete O.,Center for Biomedical Network Research on Rare Diseases | Martinez P.,Telomeres and Telomerase Group | Garcia-Pavia P.,Hospital Universitario Puerta Of Hierro | And 28 more authors.
Nature Communications | Year: 2015

Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The same gene alteration is found in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the same mutation in a breast AS family. The mutation is recently found once in 121,324 studied alleles in ExAC server but it is not described in any other database or found in 1,520 Spanish controls. In silico structural analysis suggests how the mutation disrupts POT1 structure. Functional and in vitro studies demonstrate that carriers of the mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility. © 2015 Macmillan Publishers Limited. All rights reserved. Source


Minig L.,Clara Campal Comprehensive Cancer Center | Patrono M.G.,Clara Campal Comprehensive Cancer Center | Romero N.,Clara Campal Comprehensive Cancer Center | Moreno J.F.R.,Clara Campal Comprehensive Cancer Center | Garcia-Donas J.,Clara Campal Comprehensive Cancer Center
World Journal of Clinical Oncology | Year: 2014

Uterine cervical cancer is the second most common gynecological malignancy. It is estimated that over 35% of tumors are diagnosed at locally advanced disease, stage IB2-IIB with an estimated 5-year overall survival of 60%. During the last decades, the initial treatment for these women has been debated and largely varies through different countries. Thus, radical concurrent chemoradiation is the standard of care in United Sated and Canada, and neoadjuvant chemotherapy followed by radical surgery is the first line of treatment in some institutions of Europe, Asia and Latin America. Until today, there is no evidence of which strategy is better over the other. This article describe the evidence as well as the advantages and disadvantages of the main strategies of treatment for women affected by uterine cervical cancer stage IB2-IIB. © 2014 Baishideng Publishing Group Co., Limited. All rights reserved. Source

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